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Gene: Adcyap1 MGI:105094

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
adenylate cyclase activating polypeptide 1
Synonyms:
PACAP

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Adcyap1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adcyap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy, Epiphora OMIM:122100
Corneal Dystrophy, Meesmann, 2
Epiphora, Recurrent corneal erosions OMIM:618767
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Epithelial Recurrent Erosion Dystrophy
Corneal erosion, Epiphora OMIM:122400
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Alacrima, Congenital, Autosomal Recessive
Punctate corneal epithelial erosions, Alacrima OMIM:601549
Keratoendotheliitis Fugax Hereditaria
Keratitis, Epiphora, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Limbal Stem Cell Deficiency
Lacrimation abnormality, Opacification of the corneal epithelium, Generalized opacification of th... ORPHA:171673
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Morquio Syndrome C
Corneal opacity OMIM:252300
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Alacrima, Congenital, Autosomal Dominant
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Alacrima, Decreased lacrimation OMIM:103420
Vernal Keratoconjunctivitis
Lacrimation abnormality, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate ke... ORPHA:70476
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Galactosialidosis
Corneal opacity ORPHA:351
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Alacrima OMIM:300858
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Conjunctival amyloidosis, C... ORPHA:98957
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring, Decreased lacrimation OMIM:616488
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c... OMIM:615980
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Ovarian Dysgenesis 4
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... OMIM:616185
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Neurotrophic Keratopathy
Lacrimation abnormality, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal ... ORPHA:137596
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemi... ORPHA:276575
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... OMIM:616828
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... ORPHA:369
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Lacrimation abnormality, Uveal ectropion, Abnormal ... ORPHA:98973
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsul... ORPHA:276580
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... ORPHA:528
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogl... ORPHA:276556
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevated circulating... OMIM:617872
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Winchester Syndrome
Corneal opacity OMIM:277950
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... OMIM:300559
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Alacrima ORPHA:91416
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Mildly elevated creatine kin... OMIM:618400
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hyp... ORPHA:2348
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Myopathy, Failure to thri... ORPHA:26792
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation... ORPHA:26793
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... ORPHA:2410
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Cataract 47
Microcornea, Cataract OMIM:612018
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618117
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased seru... OMIM:617690
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis, Decreased lacrimation OMIM:242150
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Increased circulating 18-hydroxycortiso... OMIM:610600
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea OMIM:617272
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, EMG: myopathic abnormalit... ORPHA:71
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... OMIM:300123
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased ... OMIM:618187
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Elevated circu... ORPHA:2088
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva... ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:98855
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... OMIM:615160
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog... ORPHA:264580
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Hydroa Vacciniforme
Keratitis, Epiphora ORPHA:330058
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas... ORPHA:100083
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Hypothyroidism, Hepat... OMIM:619013
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridem... ORPHA:412
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Alacrima ORPHA:289483
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Transient hyp... ORPHA:156
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism, Short stature ORPHA:631
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:98863
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Muscle ... ORPHA:280365
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:98853
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... ORPHA:98908
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Panhypopituitarism, X-Linked
Pituitary dwarfism, Panhypopituitarism OMIM:312000
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Lacrimal Duct Defect
Dacryocystocele, Conjunctivitis, Epiphora OMIM:149700
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Blue Cone Monochromatism
Corneal dystrophy ORPHA:16
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... ORPHA:263501
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy, Myopathy ORPHA:79087
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating branched chain am... ORPHA:2394
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... OMIM:246200
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function, H... ORPHA:79319
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... OMIM:248370
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Diastasis recti, Decreased body weight, Neonatal hypogly... ORPHA:231140
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality ORPHA:1484
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Short stature, Shyness, Cryptorchidism, Increased circulating gon... ORPHA:163971
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Neonatal death, Hyperalaninemia, Hepatic steatosis, Limb hypertonia OMIM:615918
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Premature Ovarian Failure 13
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... OMIM:617442
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... OMIM:246900
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu... ORPHA:289504
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia OMIM:614741
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... ORPHA:453533
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Decreased lacrimation ORPHA:240071
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Alacrima ORPHA:1764
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:269700
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia, Proximal amyotrophy OMIM:604484
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... OMIM:300148
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:245400
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin... OMIM:602579
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W... ORPHA:1979
Lacrimoauriculodentodigital Syndrome 2
Conjunctivitis, Alacrima OMIM:620192
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... OMIM:273250
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima OMIM:608088
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... OMIM:618120
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Alacrima, Corneal ulceration, Recurrent corneal erosions OMIM:223900
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... ORPHA:79096
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Splen... OMIM:617591
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Pulmonary Blastoma
Weight loss ORPHA:64741
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Alacrima, Lacrimal duct stenosis OMIM:615560
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly OMIM:266150
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Fish-Eye Disease
Corneal opacity ORPHA:79292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Central hypothyroidis... OMIM:616113
Cockayne Syndrome Type 1
Cataract, Conjunctivitis, Decreased lacrimation ORPHA:90321
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati... ORPHA:99901
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Pitu... ORPHA:90674
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... ORPHA:90003
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis OMIM:603776
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... OMIM:609015
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Alacrima OMIM:231550
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Hypothy... OMIM:617575
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Ocular Cystinosis
Corneal crystals ORPHA:411641
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hepatocellular ... OMIM:232200
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:618958
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive OMIM:614702
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... OMIM:307030
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:614300
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... ORPHA:226307
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia ORPHA:48431
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Scheie Syndrome
Corneal opacity OMIM:607016
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... ORPHA:79303
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co... OMIM:208920
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Corneal astigmatism, Nasolacrimal duct obstruction, Dacryocyst... ORPHA:141083
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Decreased lacrimation OMIM:601559
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia OMIM:210200
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating crea... OMIM:201475
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadot... ORPHA:298
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:608836
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Lacrimation abnormality ORPHA:1882
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... ORPHA:90790
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, Alacrima, Decreased lacrimation OMIM:609136
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia OMIM:614739
Tuberculosis
Weight loss ORPHA:3389
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... OMIM:131100
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypoglycemia OMIM:300438
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased mus... ORPHA:465508
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... ORPHA:905
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Sunct Syndrome
Conjunctival hyperemia, Increased tear production, Epiphora ORPHA:57145
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Perrault Syndrome 1
Increased circulating gonadotropin level, Short stature, Primary amenorrhea OMIM:233400
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Myopathy, Macrovesicular hepatic steatosis OMIM:618234
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Alacrima, Corneal scarring OMIM:614653
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Failure to thrive, Neon... OMIM:619046
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... ORPHA:243
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hepatocellular carcinoma, Hy... ORPHA:79259
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Cockayne Syndrome
Cataract, Band keratopathy, Developmental cataract, Keratoconjunctivitis sicca, Abnormal cornea m... ORPHA:191
Cockayne Syndrome B
Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma,... OMIM:133540
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Abnormal circulating creatine kinase conce... ORPHA:369840
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... OMIM:619355
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity, Epiphora ORPHA:2399
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Sialidosis Type 2
Corneal opacity ORPHA:87876
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Frontonasal Dysplasia 2
Decreased lacrimation OMIM:613451
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Alacrima OMIM:615510
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Hypogly... ORPHA:26791
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,... OMIM:277460
Graft Versus Host Disease
Decreased lacrimation ORPHA:39812
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Paroxysmal Hemicrania
Conjunctival hyperemia, Epiphora ORPHA:157835
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive, Pancreatitis, Lim... OMIM:606054
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Astigmatism, Alacrima OMIM:618548
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Corneal scarring, Decreased lacrimation ORPHA:404454
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... OMIM:615453
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ... ORPHA:261476
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating ... OMIM:256810
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... ORPHA:348
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Rh... ORPHA:159
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Insulin resistance, H... ORPHA:508
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t... OMIM:251000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Trisomy 8P
Astigmatism, Heterochromia iridis, Decreased lacrimation ORPHA:264450
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Heterochromia iridis, Decreased lacrimation ORPHA:163746
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... ORPHA:819
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Irritability, Abnormal repet... ORPHA:391307
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Skeletal myopathy,... ORPHA:746
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... OMIM:620300
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Elevated circulating glutaric a... OMIM:231680
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Cog8-Cdg
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia ORPHA:95428
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Congenital Macroglossia
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma, Decreased lacrimation OMIM:216400
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, General... ORPHA:52430
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Epiphora OMIM:167730
Waardenburg Syndrome Type 1
Lacrimation abnormality, Heterochromia iridis ORPHA:894
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... ORPHA:79239
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Hepatic steatosis, Hypoketoti... OMIM:231530
Focal Facial Dermal Dysplasia Type Iii
Lacrimation abnormality ORPHA:1807
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Alacrima OMIM:615356
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Adrenal insufficiency, Steatorrhea, ... ORPHA:75233
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:300068
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Impotence, Dementia, Disinhibition, Gait disturbance, Attenti... ORPHA:43
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Blepharonasofacial Malformation Syndrome
Lacrimation abnormality ORPHA:1252
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... OMIM:618329
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:86893
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular ca... OMIM:232220
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... OMIM:619313
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Small for gestational age, Delayed pubert... ORPHA:391408
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency, Myopathy ORPHA:977
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... ORPHA:95409
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, ... OMIM:158310
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Lacrimoauriculodentodigital Syndrome 3
Alacrima OMIM:620193
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis ORPHA:210548
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, Obesity OMIM:615996
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter OMIM:188580
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Hyperammonemia OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Hepatosplenomegaly, Hypogonadism, Hernia,... ORPHA:168569
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis, Elevated circulating branched chain amino acid concentration, Elevate... OMIM:248600
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... ORPHA:97287
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... ORPHA:97278
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Alacrima OMIM:615273
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia OMIM:246450
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... ORPHA:480864
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... OMIM:616263
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
49,Xxxyy Syndrome
Eunuchoid habitus, Abnormality of the testis size, Increased circulating gonadotropin level, Prim... ORPHA:261534
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... ORPHA:470
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Increased circulating gonado... ORPHA:755
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Precocious puberty, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenit... ORPHA:254346
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal cir... ORPHA:79474
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... OMIM:616878
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Adrenal cal... ORPHA:85138
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Chondroectodermal Dysplasia With Night Blindness
Epiphora ORPHA:319195
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo... OMIM:619055
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Fai... OMIM:210210
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Kilquist Syndrome
Alacrima OMIM:619080
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:231670
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
46,Xy Sex Reversal 1
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... OMIM:400044
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hypert... OMIM:256040
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Huntington Disease-Like 2
Weight loss ORPHA:98934
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia ORPHA:157973
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Complete Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral ... ORPHA:99429
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... ORPHA:1332
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Failure to ... ORPHA:320
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... ORPHA:1133
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... ORPHA:572
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Smith-Kingsmore Syndrome
Umbilical hernia, Hypoglycemia, Diastasis recti, Large for gestational age OMIM:616638
Orthostatic Hypotension 1
Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Diaphragmatic eventration, Microvesicular hepatic steatosis, Gener... ORPHA:66634
Waardenburg Syndrome
Lacrimation abnormality, Heterochromia iridis ORPHA:3440
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Generalized amyotrophy, Limb hypertonia OMIM:617710
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... ORPHA:2959
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:619802
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Weight loss ORPHA:100024
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:608779
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia, Large for gestational age OMIM:619075
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Nemaline bodies OMIM:620275
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, A... OMIM:212065
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficienc... ORPHA:2047
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior ORPHA:391417
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre... OMIM:609069
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hypert... OMIM:619487
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive, Abnor... ORPHA:2609
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... OMIM:210250
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hepati... ORPHA:14
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232240
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Houge-Janssens Syndrome 1
Facial hypotonia, Congenital muscular torticollis, Hypoglycemia OMIM:616355
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei... ORPHA:95427
Helix Syndrome
Alacrima OMIM:617671
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity ORPHA:444002
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Hypoglycemia OMIM:601005
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:610198
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Skeletal muscle atrophy, Hyp... ORPHA:17
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, El... ORPHA:97280
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... OMIM:180860
49,Xyyyy Syndrome
Eunuchoid habitus, Abnormality of the testis size, Increased circulating gonadotropin level, Azoo... ORPHA:99330
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Primary a... ORPHA:347
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Obesity, Male hypogonadism, Pancreatitis OMIM:619471
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia... OMIM:615751
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... OMIM:276700
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Rhabdoid Tumor
Neoplasm of the liver, Hypercalcemia, Weight loss ORPHA:69077
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Inguinal hernia, Hypothyroidism, Hypoglycemia ORPHA:397590
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Oculoauricular Syndrome
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... OMIM:612109
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... OMIM:615577
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... OMIM:229600
Hsd10 Disease, Infantile Type
Hypoglycemia, Hyperammonemia ORPHA:391428
Scheie Syndrome
Corneal opacity ORPHA:93474
Branchiootorenal Syndrome 1
Gustatory lacrimation, Lacrimation abnormality, Lacrimal duct stenosis OMIM:113650
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... ORPHA:163681
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Diabetes ins... ORPHA:97229
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Recurrent hypoglycemia, Hypothyroidism, Delayed puberty OMIM:616817
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:507
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia OMIM:220120
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, P... OMIM:236200
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adr... OMIM:617053
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Hernia, Weight loss ORPHA:26790
Immunodeficiency 27A
Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Weight loss OMIM:209950
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Weight loss, Knee flexion contracture, Distal amyotrophy, Skeletal myopa... ORPHA:3208
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:42642
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Jaundic... ORPHA:20
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Prader-Willi Syndrome
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:176270
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resist... ORPHA:813
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... ORPHA:168558
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Male hypogo... ORPHA:139396
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... OMIM:118450
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Weight loss ORPHA:545
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... OMIM:277900
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema ORPHA:3165
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Acrocraniofacial Dysostosis
Lacrimation abnormality ORPHA:949
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Stillbirth, Decreased liver function, Neonatal death, Hepatic steatosis OMIM:614922
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Alacrima OMIM:619005
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland hypoplasia, Lacrimal gland aplasia, Decreased lacrimation ORPHA:572333
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Nasolacrimal duct obstruction, Epiphora OMIM:224230
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Renpenning Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Cachexia ORPHA:3242
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... OMIM:261515
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Thyroiditis, Weight loss, Hypocalcemia, Steatorrhea, Type I diabet... OMIM:212750
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypoglycemia, Hypocalcemia OMIM:607143
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Elevated circulating C-reactive protein concentrati... ORPHA:54251
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract ORPHA:912
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo... ORPHA:90794
Tenorio Syndrome
Macroglossia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Shigellosis
Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Peritonitis, Rhabdomyolysis, Abnormal b... ORPHA:810
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract ORPHA:93400
X-Linked Agammaglobulinemia
Hepatitis, Weight loss, Hypocalcemia, Cellulitis, Failure to thrive ORPHA:47
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Primary Sclerosing Cholangitis
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the... ORPHA:171
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Hernia, Weight loss ORPHA:1842
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Hypoglycemia, Small for gestat... OMIM:613658
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia, Camptodactyly OMIM:301032
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating... ORPHA:370348
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Myopathy, Thyroi... ORPHA:109
Cystinosis
Corneal opacity ORPHA:213
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Huntington Disease
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss ORPHA:399
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Joint contracture, Failure to thrive, Hypothyroidism, Hypoglycemia OMIM:618005
Polymyositis
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... ORPHA:732
Lacrimoauriculodentodigital Syndrome 1
Nasolacrimal duct obstruction, Lacrimal gland hypoplasia, Conjunctivitis, Recurrent corneal erosi... OMIM:149730
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Recurr... ORPHA:79324
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity ORPHA:96168
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Lacrimation abnormality ORPHA:2916
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Deeah Syndrome
Alacrima OMIM:619004
Eosinophilic Gastroenteritis
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea ORPHA:2070
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Huntington Disease-Like 2
Weight loss OMIM:606438
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... ORPHA:100080
Refractory Celiac Disease
Elevated hepatic transaminase, Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypoph... ORPHA:398063
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Glycosuria, Diffuse hepatic st... ORPHA:436271
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... ORPHA:699
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Weight loss ORPHA:94080
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Johanson-Blizzard Syndrome
Lacrimation abnormality ORPHA:2315
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased lacrimation ORPHA:293987
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Congenital Tufting Enteropathy
Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea ORPHA:92050
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Eec Syndrome
Keratitis, Corneal erosion, Lacrimation abnormality ORPHA:1896
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Christianson Syndrome
Arthrogryposis multiplex congenita, Decreased muscle mass, Cachexia ORPHA:85278
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia ORPHA:30
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Anaplastic Thyroid Carcinoma
Weight loss, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Nodular goiter, G... ORPHA:142
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Neonatal death, Arthrogry... OMIM:618186
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Hypoglycemia, Myopathy, Hepatic failure, Hy... ORPHA:506
Fucosidosis
Corneal opacity ORPHA:349
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Hypoglycemia, Splenomegaly, Ragged-red ... OMIM:252010
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Abnormal cortical gyration, Impaired T cell function, Splenomegaly, Patent ductus a... OMIM:614576
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity ORPHA:369837
Chédiak-Higashi Syndrome
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:167
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Diastasis recti, Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Carcinoid Syndrome
Epiphora ORPHA:100093
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:391
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia ORPHA:2471
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... ORPHA:251510
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss ORPHA:83469
Dyskeratosis Congenita, Autosomal Recessive 6
Epiphora OMIM:616353
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Rheumatoid Arthritis
Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Majeed Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Shashi-Pena Syndrome
Hypoglycemia, Limb hypertonia OMIM:617190
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... ORPHA:469
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Decreased circulating ... ORPHA:3337
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:2719
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... ORPHA:100082
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Leiomyosarcoma, Hepatoblastoma, Hypot... ORPHA:116
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Umbilical hernia, Macroglossia, Hypoglycemia OMIM:614501
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdom... OMIM:267000
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Pallister-Hall Syndrome
Decreased testicular size, Short stature, Adrenal hypoplasia, Large for gestational age, Precocio... ORPHA:672
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Facial hypotonia, Hip contracture, Failure to thrive in infancy, Cachexia OMIM:616801
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... ORPHA:93111
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Choreoacanthocytosis
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Lacrimation abnormality, Abnormal pupil morphology, Buphthalmos, Lenti... ORPHA:534
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Jaundice, Hyperammonemia, Hyperhomocysti... ORPHA:79282
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
48,Xxxy Syndrome
Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Type II diabetes mellitus, Infertility, Abnor... ORPHA:96263
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hepatic steatosis, Failure to thrive, Hyperthyroidism, Hypog... ORPHA:3455
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Schinzel-Giedion Syndrome
Alacrima ORPHA:798
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Hypoglycemia, Contracture of the proximal interphalangeal joint ... ORPHA:457279
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... ORPHA:440437
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, We... OMIM:220110
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Weight loss, Incre... ORPHA:100075
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss ORPHA:86884
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Umbil... OMIM:301066
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypothyroidism, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconjugated hyperbi... OMIM:613673
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Holoprosencephaly
Hyponatremia, Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congeni... ORPHA:2162
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... ORPHA:96253
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... ORPHA:2905
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Hyperthyroidism, Failure to thrive in infancy, Cachexia,... ORPHA:37042
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Abnormal tendon mo... ORPHA:391665
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... OMIM:309000
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Combined Oxidative Phosphorylation Defect Type 39
Limb hypertonia, Neonatal hypoglycemia, Congenital foot contractures ORPHA:565624
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss ORPHA:2221
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:3226
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morph... ORPHA:143
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Weight loss ORPHA:79242
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... ORPHA:96182
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Flexion contracture, Hypoglycemia, Decreased response to growth ho... OMIM:616007
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
3Mc Syndrome 3
Corneal opacity OMIM:248340
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... ORPHA:371364
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Bloom Syndrome
Elevated hemoglobin A1c, Hepatic steatosis, Small for gestational age, Type II diabetes mellitus OMIM:210900
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Macroglossia, Hypoalbuminemia, Macrovesicular he... OMIM:617303
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbum... OMIM:610965
Lamb-Shaffer Syndrome
Abnormal social behavior, Mild postnatal growth retardation ORPHA:530983
Sotos Syndrome
Glucose intolerance, Increased body weight, Neonatal hypoglycemia, Prolonged neonatal jaundice OMIM:117550
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice OMIM:233600
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... ORPHA:100086
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Failure to thrive in infa... OMIM:219800
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los... OMIM:164310
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Aggressive Systemic Mastocytosis
Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Decreased liver function ORPHA:98850
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Huntington Disease-Like 1
Weight loss ORPHA:157941
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di... ORPHA:300605
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:2930
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of renin-ang... ORPHA:3385
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Small for gestational age... OMIM:264090
Perry Syndrome
Weight loss ORPHA:178509
Felty Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis ORPHA:47612
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Weight loss, Macroglossia, Abnormali... ORPHA:85443
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Hypoglycemia OMIM:620224
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets... OMIM:220111
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,... OMIM:603041
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Hypoalbuminemia, Weight loss ORPHA:67
Immunodeficiency 31C
Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Splenomegaly, Weight loss, Delayed pube... OMIM:614162
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis ORPHA:2092
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... ORPHA:144
Menkes Disease
Inguinal hernia, Hypoglycemia, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical sca... ORPHA:565
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Hepatitis, Thyroiditis, Weight loss ORPHA:139402
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatic steatosis, Increased circulating ferritin concentration, Splenomegaly, Hepa... OMIM:615846
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:276621
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Takayasu Arteritis
Weight loss ORPHA:3287
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Simpson-Golabi-Behmel Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... ORPHA:373
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:29072
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Fryns Syndrome
Corneal opacity ORPHA:2059
Oculodentodigital Dysplasia
Umbilical hernia, Camptodactyly of finger, Hypoglycemia, Abnormal dental enamel morphology ORPHA:2710
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity ORPHA:464
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Dyskeratosis Congenita, Autosomal Dominant 3
Epiphora OMIM:613990
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly ORPHA:824
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Amoebiasis Due To Free-Living Amoebae
Corneal perforation, Conjunctival hyperemia, Corneal ulceration, Increased tear production ORPHA:68
Wars2-Related Combined Oxidative Phosphorylation Defect
Generalized amyotrophy, Neonatal hypoglycemia, Limb hypertonia ORPHA:572798
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... ORPHA:90062
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Conjugated hyperbilirubinemia,... OMIM:620305
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
Moebius Syndrome
Corneal opacity ORPHA:570
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Lacrimation abnormality, Blue irides, Aplasia/Hypoplasia ... ORPHA:904
Hurler Syndrome
Corneal opacity ORPHA:93473
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Abnormality of connective tissue, Weight loss ORPHA:79128
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Fg Syndrome Type 1
Short stature, Cryptorchidism, Small pituitary gland, Abnormal social behavior, Slender build ORPHA:93932
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Hypoplasia of the musculature, Fle... ORPHA:2020
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Dyskeratosis Congenita, Digenic
Epiphora OMIM:620040
Vici Syndrome
Lymphopenia, Decreased circulating IgG2 level, Decreased T cell activation, Gray matter heterotop... OMIM:242840
Alpha-Mannosidosis, Infantile Form
Astigmatism, Corneal opacity, Cataract ORPHA:309282
Osteosarcoma
Weight loss ORPHA:668
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... OMIM:400045
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Charge Syndrome
Lacrimation abnormality, Iris coloboma ORPHA:138
Chronic Beryllium Disease
Weight loss ORPHA:133
Histidinemia
Hyperactivity ORPHA:2157
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Opacification of the corneal stroma ORPHA:581
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss ORPHA:729
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Dyskeratosis Congenita, X-Linked
Pterygium, Cataract, Conjunctivitis, Epiphora OMIM:305000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Cap Polyposis
Weight loss ORPHA:160148
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis OMIM:619321
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Adrenocortical carcinoma, ... OMIM:130650
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Oromandibular Dystonia
Torticollis, Weight loss ORPHA:93958
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Cachexia ORPHA:52503
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ... ORPHA:100078
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Liposarcoma
Weight loss ORPHA:69078
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy ORPHA:495875
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Microsporidiosis
Myositis, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland,... ORPHA:2552
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Steatorrhea ORPHA:309031
Tetrasomy 12P
Cachexia ORPHA:884
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... ORPHA:99826
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Flexi... OMIM:300868
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Precocious puberty, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Eleva... OMIM:270400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Unco... OMIM:618278
Giant Cell Arteritis
Hepatic failure, Diabetes insipidus, Weight loss ORPHA:397
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Diabetes insip... ORPHA:35687
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatosplenome... ORPHA:781
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Thymoma
Myositis, Neoplasm of the thyroid gland, Weight loss ORPHA:99867
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Jaundice, Failure to thrive, Neonatal hypoglycemia OMIM:617248
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism ORPHA:85293
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... ORPHA:79318
Juvenile Dermatomyositis
Calcinosis, Myositis, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:93672
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Proboscis Lateralis
Cataract, Corneal opacity, Nasolacrimal duct obstruction, Microcornea, Iris coloboma ORPHA:141099
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Weight loss ORPHA:747
Oculoectodermal Syndrome
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma OMIM:600268
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Yao Syndrome
Weight loss OMIM:617321
Castleman Disease
Jaundice, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:160
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Larsen Syndrome
Corneal opacity OMIM:150250
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... ORPHA:29073
Perry Syndrome
Weight loss OMIM:168605
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Diastasis recti, Splenomegaly, Weight loss, Knee flexion contra... ORPHA:576
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Chime Syndrome
Corneal opacity ORPHA:3474
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Torticollis, Overweight, Jaundice, Obesity, Hyperbilirubinemia, De... OMIM:619475
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Rett Syndrome
Skeletal muscle atrophy, Cachexia OMIM:312750
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p... OMIM:188400
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Bilateral cryptorchidis... ORPHA:1772
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Skeletal muscle atrophy, Shoulder flexion contracture, Elevated... ORPHA:800
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Weight loss ORPHA:183
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214100
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Infantile Krabbe Disease
Failure to thrive, Shoulder girdle muscle weakness, Cachexia ORPHA:206436
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Increased t... ORPHA:95455
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Diaphragmatic eventration,... OMIM:619503
Gerstmann-Straussler Disease
Lower limb muscle weakness, Weight loss OMIM:137440
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Costello Syndrome
Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Macroglossia, Failure to thrive OMIM:218040
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Fatal Familial Insomnia
Weight loss OMIM:600072
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Ogden Syndrome
Inguinal hernia, Torticollis, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macr... OMIM:300855
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Stüve-Wiedemann Syndrome
Lacrimation abnormality ORPHA:3206
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Neurofibromatosis Type 1
Corneal opacity, Cataract, Heterochromia iridis, Lisch nodules ORPHA:636
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... ORPHA:363958
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Weight loss ORPHA:98849
Meckel Syndrome
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea ORPHA:564
1P36 Deletion Syndrome
Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Obesity, Myopathy, Abnorma... ORPHA:1606
Camurati-Engelmann Disease
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou... ORPHA:1328
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Myopathy, Neonatal hypoglycemia OMIM:261740
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Elevated circulating C-reactive protein c... ORPHA:1304
Pneumocystosis
Weight loss ORPHA:723
Simple Cryoglobulinemia
Viral hepatitis, Weight loss ORPHA:91139
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Hepatosplenomegaly, Flexion contracture, Enthesitis ORPHA:85408
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulating surf... ORPHA:60025
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... ORPHA:449395
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:614866
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium ORPHA:910
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... ORPHA:48435
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Epiphora OMIM:181000
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Sarcoidosis
Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Scarring, Portal hypertension, ... ORPHA:797
Stevens-Johnson Syndrome
Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss ORPHA:36426
Holoprosencephaly 1
Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of the hypothalam... ORPHA:900
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Skeletal muscle atrophy, Cachexia ORPHA:1969
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Toxic Epidermal Necrolysis
Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss ORPHA:537
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Gaucher Disease
Corneal opacity ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Trisomy 18
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia ORPHA:3380
Hereditary Late-Onset Parkinson Disease
Hypomimic face, Weight loss ORPHA:411602
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Smith-Lemli-Opitz Syndrome
Cataract, Iris coloboma, Sclerocornea ORPHA:818
Riddle Syndrome
Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:420741
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Nocardiosis
Liver abscess, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Cellulitis ORPHA:31204
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Fraser Syndrome 1
Corneal opacity OMIM:219000
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Rat-Bite Fever
Pancreatitis, Tendonitis, Weight loss ORPHA:31205
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Mend Syndrome
Cryptorchidism, Failure to thrive, Abnormal social behavior, Short stature ORPHA:401973
Familial Thrombocytosis
Splenomegaly, Weight loss ORPHA:71493
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Abnormality of the extraocular musc... ORPHA:79078
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Fanconi Anemia
Weight loss, Abnormality of the liver, Hypogonadism, Umbilical hernia, Abnormality of the hypotha... ORPHA:84
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma OMIM:252500
Pyomyositis
Myositis, Weight loss ORPHA:764
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... ORPHA:50918
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Juvenile Polyposis Of Infancy
Cachexia, Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353277
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Weight loss, Hypo... OMIM:619381
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Weight loss ORPHA:79430
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss ORPHA:52417
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Neoplasm of the gallbladder ORPHA:309271
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Weight loss OMIM:301074
Dermatomyositis
Inflammatory myopathy, Weight loss, Chondrocalcinosis, Cellulitis ORPHA:221
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Behçet Disease
Splenomegaly, Myositis, Pancreatitis, Weight loss ORPHA:117
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy... ORPHA:805
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia ORPHA:808
Reactive Arthritis
Weight loss, Enthesitis ORPHA:29207
Sotos Syndrome
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Bilateral camptodacty... ORPHA:821
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
22Q11.2 Deletion Syndrome
Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Hypoplasia of the thymus, Throm... ORPHA:567
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Skeletal muscle atrophy, Cachexia ORPHA:647
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Proteus Syndrome
Thymus hyperplasia, Decreased muscle mass, Abnormal dental enamel morphology, Cachexia, Neoplasm ... ORPHA:744
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Slender build, Cachexia ORPHA:558
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Flexion contracture, Weight loss ORPHA:99921
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:91500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Splenomegaly, Myocardial calcification, Hypoalbuminemia ORPHA:75565
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Macroglossia, Slender build ORPHA:828
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen OMIM:233450
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adcyap1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adcyap1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexually dimorphic role of the locus coeruleus PAC1 receptors in regulating acute stress-associated energy metabolism. Frontiers in behavioral neuroscience (October 2022) Adcyap1r1tm1a(KOMP)Wtsi PMC9580361
Targeted deletion of PAC1 receptors in retinal neurons enhances neuron loss and axonopathy in a model of multiple sclerosis and optic neuritis. Neurobiology of disease (October 2021) Adcyap1r1tm1c(KOMP)Wtsi Adcyap1r1tm1a(KOMP)Wtsi 34610465
A Basomedial Amygdala to Intercalated Cells Microcircuit Expressing PACAP and Its Receptor PAC1 Regulates Contextual Fear. The Journal of neuroscience : the official journal of the Society for Neuroscience (February 2021) Adcyap1r1tm1c(KOMP)Wtsi PMC8051692

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Adcyap1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adcyap1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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