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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 dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Corneal Dystrophy, Meesmann, 1
Epiphora, Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions, Epiphora OMIM:618767
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal erosion OMIM:122400
Alacrima, Congenital, Autosomal Recessive
Punctate corneal epithelial erosions, Alacrima OMIM:601549
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiphora, Opacification of the corneal stroma, Keratitis OMIM:148200
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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Myopathy, Hypertriglyceridemia ORPHA:366
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Epiphora, Keratitis, Corneal scarri... ORPHA:171673
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ... ORPHA:280356
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Morquio Syndrome C
Corneal opacity OMIM:252300
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Abnormal cir... ORPHA:171706
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions, Alacrima, Decreased lacrimation, Lacrimal gland hypoplasia OMIM:103420
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent cor... ORPHA:293381
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosi... OMIM:612526
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... ORPHA:324575
Galactosialidosis
Corneal opacity ORPHA:351
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... OMIM:608600
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Corneal Dystrophy, Posterior Polymorphous, 1
Epiphora, Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning o... OMIM:122000
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Schizophrenia 15
Hyperactivity OMIM:613950
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Lipase Deficiency, Combined
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia OMIM:246650
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Gelatinous Drop-Like Corneal Dystrophy
Epiphora, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, ... ORPHA:98957
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Marsili Syndrome
Lacrimation abnormality, Corneal scarring OMIM:147430
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Decreased lacrimation, Corneal ulceration OMIM:616488
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid conce... OMIM:615980
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Sitosterolemia 2
Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Lacrimation abnor... ORPHA:137596
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276575
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Alacrima, Anisocoria OMIM:300858
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertrigl... OMIM:617885
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71526
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Isolated Congenital Alacrima
Alacrima, Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Corneal erosion ORPHA:91416
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Epiphora, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetif... ORPHA:137599
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276580
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyp... OMIM:232400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... ORPHA:276556
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Myopathy, Red... ORPHA:363400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyc... OMIM:603813
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Winchester Syndrome
Corneal opacity OMIM:277950
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Vernal Keratoconjunctivitis
Keratoconus, Epiphora, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariz... ORPHA:70476
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Reduced antra... OMIM:618723
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Obesity And Hypopigmentation
Obesity, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Myopathy,... ORPHA:26792
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Splenomegaly, Hepatic steatosis, Myopathy, Lipodystrophy, Pancrea... ORPHA:2348
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Increased LDL cholestero... OMIM:278000
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Cataract 47
Cataract, Microcornea OMIM:612018
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... OMIM:261750
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus, Decreased lacrimation OMIM:242150
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea OMIM:617272
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hydroa Vacciniforme
Epiphora, Keratitis ORPHA:330058
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, ... OMIM:619013
Aids Wasting Syndrome
Abnormal gonadotropin-releasing hormone concentration, Cachexia, Weight loss, Skeletal muscle atr... ORPHA:90081
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ... ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Intellectual Disability-Alacrima-Achalasia Syndrome
Alacrima, Anisocoria ORPHA:289483
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:79240
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... OMIM:231100
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Distal lower limb muscle weakness ORPHA:94124
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Lower limb muscle weakness, Hypoglycemia, Elevated circulating aspartate amino... OMIM:617950
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Dysbetalipoproteinemia
Tendon xanthomatosis, Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyc... ORPHA:412
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Elevated circulating carcinoembryonic antigen... ORPHA:100083
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Short stature, Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulati... OMIM:300123
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Hepatic steatosis, Myopathy, Reduced subcutaneous adipo... ORPHA:280365
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Blue Cone Monochromatism
Corneal dystrophy ORPHA:16
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Generalized limb muscle... ORPHA:98908
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... OMIM:618187
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia,... OMIM:201400
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Decreased testicular size, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate... OMIM:212140
Lacrimal Duct Defect
Dacryocystocele, Conjunctivitis, Epiphora OMIM:149700
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat... ORPHA:2394
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, Reduced social reciprocity, Impaired ability to form peer relationships OMIM:608636
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Neonatal death, Hyperprolinemia, Hyperalaninemia, Limb hypertonia OMIM:615918
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... ORPHA:79319
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Hypoglycemia ORPHA:35
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Skeletal muscle atrophy, Choles... OMIM:246200
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Tangier Disease
Distal amyotrophy, Facial diplegia, Hypertriglyceridemia, Splenomegaly, Elevated circulating apol... OMIM:205400
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatrem... ORPHA:199296
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Elbow flexion cont... OMIM:248370
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Dicarbo... ORPHA:289504
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:608594
Blue Diaper Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased proinsulin:... ORPHA:94086
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Diastasis recti, Decreased body weight, Neonatal hypoglycemia, Small for gestationa... ORPHA:231140
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality ORPHA:1484
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldostero... ORPHA:556037
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima OMIM:608088
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased respons... ORPHA:90695
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... OMIM:261680
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function OMIM:601466
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... OMIM:602579
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Proximal amyotrophy, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Decreased lacrimation ORPHA:240071
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldostero... ORPHA:556030
Familial Dysautonomia
Alacrima, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Landau-Kleffner Syndrome
Depression, Memory impairment, Gait ataxia, Emotional lability, Short attention span, Aggressive ... ORPHA:98818
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotra... OMIM:245400
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Hypocalcemia, Failure to thrive ORPHA:163693
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Hyperammonemia, Rhabdomyolysis, Elevated circulating cre... OMIM:618120
Lacrimoauriculodentodigital Syndrome 2
Conjunctivitis, Alacrima OMIM:620192
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia ORPHA:664
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Reduced subcutaneous adipose ... ORPHA:1979
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Idiopathic Achalasia
Weight loss, Decreased circulating prealbumin concentration ORPHA:930
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femoral hernia ORPHA:2849
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Non-Acquired Isolated Growth Hormone Deficiency
Decreased muscle mass, Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Neonatal ... ORPHA:631
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... OMIM:600649
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased testicular size, Intrauterine growth retardat... OMIM:300869
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Neonatal death, Elevated circulating creatine kinase conc... OMIM:618835
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Neonatal death, Elevated circulating creatine kinase conc... OMIM:618839
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Alacrima, Corneal ulceration OMIM:223900
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Decreased liver function ORPHA:67048
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... OMIM:619418
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin... ORPHA:79096
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Progres... ORPHA:248111
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Myositi... OMIM:617591
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Pulmonary Blastoma
Weight loss ORPHA:64741
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Lacrimal duct stenosis, Alacrima OMIM:615560
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ... ORPHA:98907
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis OMIM:603776
Fish-Eye Disease
Corneal opacity ORPHA:79292
Cockayne Syndrome Type 1
Conjunctivitis, Cataract, Decreased lacrimation ORPHA:90321
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Epiphora, Persistent pupillary membrane, Leukocoria, Developmental catarac... ORPHA:91495
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,... OMIM:615516
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr... OMIM:201450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Exer... OMIM:201475
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Achalasia-Addisonianism-Alacrima Syndrome
Alacrima, Anisocoria OMIM:231550
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce... OMIM:617575
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hyperam... OMIM:212138
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Small for gestational age OMIM:614702
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Hypoglycemia, Xan... OMIM:232200
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Ocular Cystinosis
Corneal crystals ORPHA:411641
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... ORPHA:2126
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypogly... OMIM:618958
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Hsd10 Mitochondrial Disease
Hypoglycemia, Elevated circulating tiglylglycine concentration OMIM:300438
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal upper limb amyotrop... ORPHA:98897
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr... OMIM:203800
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... ORPHA:277
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Failure to thrive OMIM:614739
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ragged-red muscle... ORPHA:298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Finger joint contracture, Acute rhabdomyolysis, Flex... ORPHA:48431
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co... OMIM:208920
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Decreased lacrimation OMIM:601559
Nasolacrimal Duct Cyst
Epiphora, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Nasolacrimal d... ORPHA:141083
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... OMIM:618805
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Hypothyroidism, Ele... OMIM:176400
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased total bilirubin,... OMIM:608836
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, Alacrima, Decreased lacrimation OMIM:609136
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate, Neon... OMIM:619046
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... OMIM:620651
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Failure to thrive, Hypoglycemia, Graves d... ORPHA:199299
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Thyroid hyp... ORPHA:226307
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Lacrimation abnormality ORPHA:1882
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97289
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Paroxysmal Hemicrania
Conjunctival hyperemia, Epiphora ORPHA:157835
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Sunct Syndrome
Conjunctival hyperemia, Increased tear production, Epiphora ORPHA:57145
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity OMIM:152950
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:157
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... OMIM:221750
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Alacrima OMIM:614653
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... ORPHA:300536
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ... OMIM:619355
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:277700
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased... OMIM:131100
Porphyria Cutanea Tarda
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... ORPHA:101330
Cockayne Syndrome
Lentiglobus, Cataract, Band keratopathy, Abnormal cornea morphology, Alacrima, Keratoconjunctivit... ORPHA:191
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Cockayne Syndrome B
Microcornea, Decreased lacrimation, Hypoplasia of the iris, Developmental cataract, Opacification... OMIM:133540
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Myopathy OMIM:618234
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Propionic Acidemia
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Limb hypertonia, ... OMIM:606054
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic stea... ORPHA:79259
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Increased circulating ferritin concentration, Decreased serum testosterone... ORPHA:465508
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Ragged-re... OMIM:606407
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Sialidosis Type 2
Corneal opacity ORPHA:87876
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Alacrima, Astigmatism OMIM:618548
Frontonasal Dysplasia 2
Decreased lacrimation OMIM:613451
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Glycerol Kinase Deficiency
Muscular dystrophy, Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancr... OMIM:307030
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Decreased lacrimation, Corneal neovascularization ORPHA:404454
Ataxia With Vitamin E Deficiency
Tendon xanthomatosis, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,... OMIM:277460
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Epiphora, Corneal opacity ORPHA:2399
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, D... ORPHA:95496
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat... OMIM:613239
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Alacrima, Anisocoria OMIM:615510
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... ORPHA:159
Graft Versus Host Disease
Decreased lacrimation ORPHA:39812
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Failure to thrive, Hepatocellul... OMIM:256810
Xp21 Deletion Syndrome
Decreased muscle mass, Adrenal insufficiency, Primary adrenal insufficiency, Myopathy, Elevated c... ORPHA:261476
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Failure to thrive, Centr... ORPHA:508
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev... OMIM:620300
Chronic Hiccup
Weight loss, Abnormality of the diaphragm ORPHA:396
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Aromatic L-Amino Acid Decarboxylase Deficiency
Failure to thrive, Hypoglycemia, Increased circulating prolactin concentration, Limb hypertonia, ... ORPHA:35708
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:620609
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Trisomy 8P
Heterochromia iridis, Decreased lacrimation, Astigmatism ORPHA:264450
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Heterochromia iridis, Decreased lacrimation ORPHA:163746
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, Motor stereotypy ORPHA:391307
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... OMIM:231680
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Decreased muscle mass, Decreased HDL cholesterol concentra... OMIM:176270
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglyc... OMIM:251110
Smith-Magenis Syndrome
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Hypercholesterolemia, ... ORPHA:819
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Abnormal circulating aldosterone, Glucocortocoid-in... ORPHA:171876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma, Decreased lacrimation OMIM:216400
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Met... OMIM:251000
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Lower limb muscle weakness, Gluc... OMIM:606721
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Wolman Disease
Hepatic failure, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachex... ORPHA:75233
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, ... ORPHA:746
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Skeletal muscle atrophy, Failure to thrive, Hypogl... OMIM:210210
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Congenital Macroglossia
Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism ORPHA:2430
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri... ORPHA:95428
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Alacrima OMIM:615356
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H... ORPHA:43
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Streak ovary, Decreased fertility, Primary amenorrhea, Delayed puberty... ORPHA:243
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Epiphora OMIM:167730
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hepatic steatosis, Elevated circ... ORPHA:52430
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Failure to thrive, Glycosuria... OMIM:227810
Focal Facial Dermal Dysplasia Type Iii
Lacrimation abnormality ORPHA:1807
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... OMIM:231530
Focal Myositis
Myositis, Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Hypoplastic spleen, Increased circulating ferritin concentration, Hyper... OMIM:619313
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Waardenburg Syndrome Type 1
Heterochromia iridis, Lacrimation abnormality ORPHA:894
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Ragged-red muscle fibers OMIM:613662
Blepharonasofacial Malformation Syndrome
Lacrimation abnormality ORPHA:1252
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased... ORPHA:79239
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:228308
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro... ORPHA:2495
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Mucoepithelial Dysplasia, Hereditary
Cataract, Epiphora, Corneal neovascularization, Keratoconjunctivitis, Opacification of the cornea... OMIM:158310
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Gaisböck Syndrome
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... ORPHA:90041
Isaacs Syndrome
Weight loss, Calf muscle hypertrophy ORPHA:84142
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hyperammonemia, Hypoglycemia OMIM:618253
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Lacrimoauriculodentodigital Syndrome 3
Alacrima OMIM:620193
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97283
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Increased circu... ORPHA:97287
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Dorsocervical fat pad, Decreased body weight, Hypothyroidism, Delayed puberty, Diab... ORPHA:391408
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232220
Adrenomyodystrophy
Primary adrenal insufficiency, Myopathy, Hepatic steatosis, Failure to thrive ORPHA:977
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis ORPHA:210548
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Skelet... OMIM:616263
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevated circulating ... OMIM:248600
Congenital Disorder Of Deglycosylation 1
Alacrima, Corneal ulceration, Corneal opacity OMIM:615273
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... ORPHA:470
Acute Adrenal Insufficiency
Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating ACTH level, Primar... ORPHA:95409
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
H Syndrome
Hypogonadism, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puberty, Hypertriglyceridemia, C... ORPHA:168569
Aromatase Deficiency
Insulin resistance, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hyperlipidemia, Hepati... ORPHA:91
Dpm1-Cdg
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Fa... ORPHA:79322
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Glutaric Acidemia I
Hepatomegaly, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia OMIM:231670
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Rhabdomyolysis, Hypokalemia, Weight loss, Hyperthyroidism OMIM:188580
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Hypothyroidism, Arthrogryposis mu... ORPHA:254346
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus ORPHA:178029
Kilquist Syndrome
Alacrima OMIM:619080
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Generalized lipodystrophy, ... ORPHA:79474
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Chondroectodermal Dysplasia With Night Blindness
Epiphora ORPHA:319195
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly ORPHA:134
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... OMIM:275000
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase concentrat... OMIM:619055
Huntington Disease-Like 2
Weight loss ORPHA:98934
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive, Elevated circulating aspartate... OMIM:615595
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri... OMIM:256040
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Androgen insufficiency, Adren... ORPHA:85138
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, Alacrima OMIM:106260
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture, Myopathy, Skeletal muscle atrophy ORPHA:157973
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Elevated circulating hepatic transaminase concentration, Elevated circ... ORPHA:66634
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia, Hypoglycemia OMIM:619075
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... ORPHA:168563
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... OMIM:615486
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Aredyld Syndrome
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... ORPHA:1133
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Smith-Kingsmore Syndrome
Large for gestational age, Diastasis recti, Hypoglycemia, Umbilical hernia OMIM:616638
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Isolated Complex I Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly, Increased serum pyruvate, Diabetes mellitus, Abnor... ORPHA:2609
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Limb hypertonia, Hypoglycemia, Generalized amyotrophy OMIM:617710
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Low plasma citrul... ORPHA:95427
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Ketotic hypoglycemia, Hyperalaninemia, Failure to thrive OMIM:620646
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary... ORPHA:363618
Waardenburg Syndrome
Heterochromia iridis, Lacrimation abnormality ORPHA:3440
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Orthostatic Hypotension 1
Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen, Elevated circulati... OMIM:223360
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, D... OMIM:232240
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Small for ges... ORPHA:2959
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... OMIM:210250
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:212065
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Failure to thrive, Decreased liver function, Hypoglycemia, Elevated circ... OMIM:608779
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Hyperlipidemia, Increased muscle... ORPHA:565612
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Hypoglycemia, Umbilical hernia, Elbow contracture, Inguinal hernia OMIM:620275
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... ORPHA:400
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97261
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Abnormal muscle fiber morpholog... ORPHA:79102
D-Glyceric Aciduria
Hypoglycemia, Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Failure ... OMIM:220120
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased liver functi... ORPHA:77293
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent... ORPHA:17
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Flynn-Aird Syndrome
Skeletal muscle atrophy, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of... ORPHA:2047
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Hypoglycemia OMIM:601005
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:610198
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:619487
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Houge-Janssens Syndrome 1
Facial hypotonia, Hypoglycemia, Congenital muscular torticollis OMIM:616355
Helix Syndrome
Alacrima OMIM:617671
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Pancreatitis... OMIM:619471
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... ORPHA:3008
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior ORPHA:391417
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Glycosu... OMIM:229600
Hsd10 Disease, Infantile Type
Hyperammonemia, Hypoglycemia ORPHA:391428
Scheie Syndrome
Corneal opacity ORPHA:93474
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age OMIM:256300
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Abnormal social behavior ORPHA:444002
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Fasting hypogly... OMIM:180860
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Breast aplasia, Hypoplasia of the Le... ORPHA:755
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Scheie Syndrome
Corneal opacity OMIM:607016
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Hepatic steatosis, Inguinal hernia, Pancreatitis, Hyperhom... OMIM:236200
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Immunodeficiency 10
Hypoglycemia, Splenomegaly, Myopathy, Amelogenesis imperfecta, Hepatomegaly OMIM:612783
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A... ORPHA:168491
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc... OMIM:619377
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Small for gestational age, Hypoglycemia, Inguinal hernia ORPHA:397590
Tyrosinemia, Type I
Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Fai... OMIM:276700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypoglycemia, D... ORPHA:293978
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo... ORPHA:507
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Hyperammonemia, ... ORPHA:20
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, Low frustration tolerance, Self-mutilation, Stere... ORPHA:163681
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased circulating carnitine concentration, Hypoglycemia, Elevated circulating aspartate amino... OMIM:246450
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Weight loss, Splenomegaly OMIM:209950
Pseudomyxoma Peritonei
Hernia, Weight loss, Abnormal peritoneum morphology ORPHA:26790
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Branchiootorenal Syndrome 1
Lacrimation abnormality, Lacrimal duct stenosis, Gustatory lacrimation OMIM:113650
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Diabetes insipidus, Hypogonadism, Limb muscle weakness, Cachexia, Facial... ORPHA:97229
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Hypercalcemia ORPHA:69077
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Mirage Syndrome
Hypoglycemia, Adrenal insufficiency, Decreased body weight, Hyponatremia, Adrenal hypoplasia, Hyp... OMIM:617053
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Isolated Succinate-Coq Reductase Deficiency
Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Skeletal myopathy, Left ven... ORPHA:3208
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Male hypogonadism, Memory impairment, Difficulty walking, Inability to walk... ORPHA:139396
Steinert Myotonic Dystrophy
Hyperinsulinemia, Pelvic girdle muscle weakness, Secondary hyperparathyroidism, Abnormality of th... ORPHA:273
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Eosinophilic Fasciitis
Cellulitis, Fasciitis, Myositis, Muscular edema, Weight loss ORPHA:3165
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly... ORPHA:536532
Follicular Lymphoma
Weight loss, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Reticular Dysgenesis
Weight loss, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:33355
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F... ORPHA:289548
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Decreased muscle mass, Recurrent hy... ORPHA:813
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Hypertrig... ORPHA:31150
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Alacrima OMIM:619005
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F... ORPHA:168558
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Myopathy, Neonatal death, Stillbirth, Hepatomegaly OMIM:614922
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ra... OMIM:614924
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:118450
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Apparent Mineralocorticoid Excess
Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating renin level, ... ORPHA:320
Acrocraniofacial Dysostosis
Lacrimation abnormality ORPHA:949
Hereditary Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:30925
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased muscle mass... OMIM:261515
Renpenning Syndrome
Cachexia, Skeletal muscle atrophy, Diabetes mellitus ORPHA:3242
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... OMIM:613658
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased lacrimation, Lacrimal gland aplasia, Lacrimal gland hypoplasia ORPHA:572333
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
47,Xyy Syndrome
Azoospermia, Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity, Oligozoospermi... ORPHA:8
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Failure to thr... OMIM:212750
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Epiphora, Nasolacrimal duct obstruction OMIM:224230
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Zellweger Syndrome
Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity ORPHA:912
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Small for gestational age, Hypocalcemia, Failure to thrive OMIM:607143
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
X-Linked Agammaglobulinemia
Cellulitis, Hepatitis, Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Weight loss, Elevated circulating C-reac... ORPHA:54251
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Hernia, Weight loss, Failure to thrive ORPHA:1842
Shigellosis
Hepatic failure, Hypoglycemia, Cholestasis, Failure to thrive in infancy, Rhabdomyolysis, Hyponat... ORPHA:810
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... ORPHA:91347
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating dehy... ORPHA:90794
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... ORPHA:100085
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index ORPHA:399
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia ORPHA:2070
Basilicata-Akhtar Syndrome
Camptodactyly, Neonatal hypoglycemia, Precocious puberty OMIM:301032
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Cystinosis
Corneal opacity ORPHA:213
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Hypoglycemia, Thyroid carcinoma, Myopathy, Hashimoto thyroiditis, Cachex... ORPHA:109
Tenorio Syndrome
Macroglossia, Hypoinsulinemia, Hypoglycemia OMIM:616260
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Elevated ... ORPHA:79443
Polymyositis
Chondrocalcinosis, Elevated circulating creatine kinase concentration, Weight loss, Abnormal musc... ORPHA:732
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Deeah Syndrome
Alacrima OMIM:619004
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Congenital Tufting Enteropathy
Steatorrhea, Weight loss, Failure to thrive, Cholestatic liver disease ORPHA:92050
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100080
Lacrimoauriculodentodigital Syndrome 1
Corneal perforation, Alacrima, Lacrimal gland hypoplasia, Limbal stem cell deficiency, Recurrent ... OMIM:149730
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration ORPHA:1933
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Ragged-red muscle fibers, Hypoglycemia OMIM:620451
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Hypothyroidism, Failure to thrive, Joint contracture OMIM:618005
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Lower limb muscle weakness, Elevated carcinoma antigen 125 level, Weight loss... ORPHA:370348
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... ORPHA:79324
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Huntington Disease-Like 2
Weight loss OMIM:606438
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Hypogonadism, Elevated circulating creatinine concentration, Hepatosple... ORPHA:85450
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Splen... ORPHA:2905
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Lacrimation abnormality ORPHA:2916
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Gait ataxia, Emotional lability, Dysmetria, Short attention span, Hyperacti... OMIM:610217
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Anaplastic Thyroid Carcinoma
Goiter, Abnormal skeletal muscle morphology, Weight loss, Nodular goiter, Anaplastic thyroid carc... ORPHA:142
Pearson Syndrome
Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Decrea... ORPHA:699
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sk... ORPHA:110
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Failure to thrive, Decreased liver function, Glycosuria, Hepatomegaly, Skeletal muscle steatosis,... ORPHA:436271
Fucosidosis
Corneal opacity ORPHA:349
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased lacrimation ORPHA:293987
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Patent ductus arteriosus, Impaired T cell function ORPHA:30
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Refractory Celiac Disease
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma... ORPHA:398063
Christianson Syndrome
Cachexia, Arthrogryposis multiplex congenita, Decreased muscle mass ORPHA:85278
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Hirschsprung Disease
Failure to thrive in infancy, Weight loss, Neoplasm of the thyroid gland ORPHA:388
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Splenomegaly, Ragged-r... OMIM:252010
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, H... ORPHA:445038
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... OMIM:277900
Johanson-Blizzard Syndrome
Lacrimation abnormality ORPHA:2315
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Neonatal death, Cachexia, Hypomimic face, Limb joint contracture, Flexion contra... OMIM:618186
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Eec Syndrome
Lacrimation abnormality, Keratitis, Corneal erosion ORPHA:1896
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Carcinoid Syndrome
Epiphora ORPHA:100093
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Leigh Syndrome
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Multiple joint contrac... ORPHA:506
Classic Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:391
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas ORPHA:83469
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Decreased specific anti-polysaccharide antibody level, Impaired T cel... OMIM:614576
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Majeed Syndrome
Failure to thrive, Splenomegaly, Cachexia, Weight loss, Hepatomegaly, Flexion contracture ORPHA:77297
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia,... ORPHA:469
Familial Colorectal Cancer Type X
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Weight loss, Abnorma... ORPHA:440437
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnormal skeletal mus... ORPHA:284
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:2471
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Diastasis recti ORPHA:457485
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypertriglyceridemia, Hypoparathyroidism, Hypercalcemia ORPHA:369837
Shashi-Pena Syndrome
Limb hypertonia, Hypoglycemia OMIM:617190
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity ORPHA:2719
Dyskeratosis Congenita, Autosomal Recessive 6
Epiphora OMIM:616353
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... ORPHA:167
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100082
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss, Digital flexor tenosynovitis OMIM:180300
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Glycosuri... ORPHA:99885
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... ORPHA:3337
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis OMIM:616271
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Mental deterioration, Depression, Head-banging, Falls, Brux... ORPHA:2388
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Facial hypotonia, Hip contracture OMIM:616801
Whipple Disease
Insulin resistance, Splenomegaly, Hyponatremia, Myositis, Cachexia, Hypothyroidism, Hepatomegaly ORPHA:3452
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Decreased liver function, Hyperglycemia, Hyperglycinemia, Hypernatremia OMIM:620423
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Macroglossia, Small for gestational age, Hypoglycemia, Umbilical hernia OMIM:614501
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Abnormal pa... ORPHA:116
Perlman Syndrome
Hypoglycemia, Large for gestational age, Congenital diaphragmatic hernia, Pancreatic islet-cell h... OMIM:267000
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Panniculitis, Splenomegaly ORPHA:33577
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin... ORPHA:3455
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hypoglycemia, Hyperam... ORPHA:79282
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Weight loss, Hyp... OMIM:613673
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Lacrimation abnormality, Corneal opacity, Bupht... ORPHA:534
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100075
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Skeletal muscle atrophy, Failur... OMIM:219800
Holocarboxylase Synthetase Deficiency
Weight loss, Hyperammonemia ORPHA:79242
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Oligomenorrhea, Abnormal fear-induced behavior OMIM:219090
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Congenital muscul... ORPHA:457279
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly OMIM:619273
Schinzel-Giedion Syndrome
Alacrima ORPHA:798
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Panniculitis ORPHA:86884
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Decreased liver function, Glycosuria, Weakness of facial musculature, Increase... OMIM:220110
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentratio... ORPHA:37042
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated... OMIM:619534
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Obesity, ... OMIM:301066
48,Xxxy Syndrome
Hypogonadism, Decreased testicular size, Obesity, Azoospermia, Type II diabetes mellitus, Cryptor... ORPHA:96263
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Holoprosencephaly
Hypoglycemia, Failure to thrive in infancy, Abnormality of the spleen, Panhypopituitarism, Congen... ORPHA:2162
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:3226
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl... ORPHA:391665
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss ORPHA:2221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures ORPHA:565624
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Decreased muscle... ORPHA:96182
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Distal amyotrophy, Slender build, Ragged-red mus... OMIM:603041
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C... ORPHA:371364
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Corn... OMIM:610965
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Flexion contracture, Central adrenal insuf... OMIM:616007
Parathyroid Carcinoma
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancrea... ORPHA:143
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... OMIM:309000
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Splenomegaly, Hepatomegaly, Macroglossia, Macrovesicular hepatic steatosis, Flex... OMIM:617303
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
3Mc Syndrome 3
Corneal opacity OMIM:248340
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Bloom Syndrome
Elevated hemoglobin A1c, Small for gestational age, Type II diabetes mellitus, Hepatic steatosis OMIM:210900
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Sotos Syndrome
Prolonged neonatal jaundice, Increased body weight, Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia OMIM:233600
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Cholecystitis, Intermittent jaundice, Biliary tr... ORPHA:100086
Aggressive Systemic Mastocytosis
Decreased liver function, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Weight loss ORPHA:98850
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Abnormal social behavior ORPHA:530983
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Lacrimoauriculodentodigital Syndrome
Epiphora, Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Ke... ORPHA:2363
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Int... ORPHA:672
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Huntington Disease-Like 1
Weight loss ORPHA:157941
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia ORPHA:2494
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypoplasia o... OMIM:264090
Perry Syndrome
Weight loss ORPHA:178509
Al Amyloidosis
Hypoalbuminemia, Abnormality of the liver, Increased circulating NT-proBNP concentration, Weight ... ORPHA:85443
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Microvesicular h... OMIM:220111
Immunodeficiency 31C
Skeletal muscle atrophy, Splenomegaly, Weight loss, Hypothyroidism, Delayed puberty, Hepatomegaly... OMIM:614162
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Weight loss, Liver abscess ORPHA:67
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Splenomegaly ORPHA:2930
Felty Syndrome
Hepatomegaly, Weight loss, Splenomegaly, Cellulitis ORPHA:47612
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia, Torticollis OMIM:620224
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Weight... ORPHA:139402
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatic steatosis, Weight ... OMIM:615846
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Cachexia, Hepatomegaly ORPHA:824
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Inguinal hernia, He... ORPHA:565
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Takayasu Arteritis
Weight loss ORPHA:3287
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ... OMIM:234200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Weight loss, Paraganglioma, Paraganglioma of head and neck, Hypercalcem... ORPHA:276621
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity ORPHA:464
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ... ORPHA:90062
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Fryns Syndrome
Corneal opacity ORPHA:2059
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia ORPHA:3217
Alström Syndrome
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... ORPHA:64
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Simpson-Golabi-Behmel Syndrome
Polysplenia, Camptodactyly of finger, Hypoglycemia, Umbilical hernia, Splenomegaly, Pancreatic is... ORPHA:373
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Weight loss, Paraganglioma, Paraganglioma of head and neck, Elevated ci... ORPHA:29072
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract OMIM:614230
Oculodentodigital Dysplasia
Abnormal dental enamel morphology, Umbilical hernia, Hypoglycemia, Camptodactyly of finger ORPHA:2710
Argininemia
Spastic gait, Irritability, Hyperactivity, Anorexia OMIM:207800
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:95626
Neuroblastoma
Elevated circulating catecholamine level, Weight loss, Increased circulating ferritin concentration ORPHA:635
Oculogastrointestinal Muscular Dystrophy
Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Limb hypertonia, Generalized amyotrophy ORPHA:572798
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... OMIM:619525
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Recurrent hypoglycemia, Decreased circulatin... OMIM:620305
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Failure to thrive, Abnormality of connective tissue ORPHA:79128
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Williams Syndrome
Cataract, Megalocornea, Aplasia/Hypoplasia of the iris, Lacrimation abnormality, Posterior embryo... ORPHA:904
Congenital Syphilis
Prolonged neonatal jaundice, Hepatosplenomegaly, Pancreatitis, Hypoglycemia ORPHA:499009
Hurler Syndrome
Corneal opacity ORPHA:93473
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of circulating cortisol level, Weight loss, Abnor... ORPHA:3385
Fabry Disease
Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Corneal dystrophy ORPHA:324
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
X-Linked Creatine Transporter Deficiency
Cachexia, Abnormal circulating creatine concentration ORPHA:52503
Moebius Syndrome
Corneal opacity ORPHA:570
Amoebiasis Due To Free-Living Amoebae
Conjunctival hyperemia, Corneal perforation, Increased tear production, Corneal ulceration ORPHA:68
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger ORPHA:2774
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Chronic Beryllium Disease
Weight loss ORPHA:133
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoulder girdle musc... ORPHA:2020
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Dyskeratosis Congenita, Digenic
Epiphora OMIM:620040
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Flexion contracture, Azotemia OMIM:619321
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity ORPHA:581
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Osteosarcoma
Weight loss ORPHA:668
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Dyskeratosis Congenita, X-Linked
Conjunctivitis, Cataract, Epiphora, Pterygium OMIM:305000
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea ORPHA:536471
Cap Polyposis
Weight loss ORPHA:160148
Histidinemia
Hyperactivity ORPHA:2157
Dyskeratosis Congenita, Autosomal Dominant 3
Epiphora OMIM:613990
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma, Peters anomaly OMIM:309801
Charge Syndrome
Lacrimation abnormality, Iris coloboma ORPHA:138
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical cytomegaly, Diastasis recti, Adrenocortical carcinoma, Hep... OMIM:130650
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Liposarcoma
Weight loss ORPHA:69078
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Oromandibular Dystonia
Weight loss, Torticollis ORPHA:93958
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... OMIM:620330
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ... ORPHA:99826
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal dystrophy, Corneal opacity ORPHA:495875
Tetrasomy 12P
Cachexia ORPHA:884
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis ORPHA:188
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,... OMIM:618278
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100078
Fg Syndrome Type 1
Small pituitary gland, Slender build, Cryptorchidism, Short stature, Abnormal social behavior ORPHA:93932
Erdheim-Chester Disease
Xanthelasma, Hypogonadotropic hypogonadism, Weight loss, Diabetes insipidus, Retroperitoneal fibr... ORPHA:35687
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Obesity, ... ORPHA:177907
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
Microsporidiosis
Hepatitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Biliary tract abnorma... ORPHA:2552
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Weight loss ORPHA:747
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Giant Cell Arteritis
Hepatic failure, Weight loss, Diabetes insipidus ORPHA:397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Large for gestational age, Hip contracture, Microvesicular hepatic ste... OMIM:300868
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cholestatic liver disease, Precocious puberty, Failure to thrive, Hypocholestero... OMIM:270400
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Cachexia ORPHA:85293
Thymoma
Myositis, Weight loss, Neoplasm of the thyroid gland ORPHA:99867
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss, Increased erythrocyte protoporphyrin concentration OMIM:301310
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transaminase ... ORPHA:79318
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neonatal hypoglycemia, Failure to thrive, Neonatal death OMIM:617248
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Castleman Disease
Elevated circulating C-reactive protein concentration, Jaundice, Weight loss ORPHA:160
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Hyperproteinemia, Hyper... ORPHA:29073
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Proboscis Lateralis
Cataract, Microcornea, Nasolacrimal duct obstruction, Corneal opacity, Iris coloboma ORPHA:141099
Polycythemia Vera
Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight loss, Hepatomegaly ORPHA:729
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... OMIM:618131
Juvenile Dermatomyositis
Elevated circulating creatine kinase concentration, Myositis, Weight loss, Calcinosis, Elevated c... ORPHA:93672
Mucolipidosis Type Ii
Umbilical hernia, Hepatosplenomegaly, Diastasis recti, Splenomegaly, Hip contracture, Knee flexio... ORPHA:576
Oculoectodermal Syndrome
Microcornea, Opacification of the corneal stroma, Limbal dermoid, Astigmatism OMIM:600268
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Hashimoto thyroiditis, Weight loss, Increased bloo... ORPHA:49041
Larsen Syndrome
Corneal opacity OMIM:150250
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Failure to thrive, Obesity, Hyperbilirub... OMIM:619475
Yao Syndrome
Weight loss OMIM:617321
Perry Syndrome
Weight loss OMIM:168605
Chime Syndrome
Corneal opacity ORPHA:3474
Rett Syndrome
Cachexia, Skeletal muscle atrophy OMIM:312750
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Posterior embryotoxon, Corneal opacity ORPHA:2556
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Decreased liver function, Abnormal mesentery morphology,... ORPHA:449395
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Weight loss ORPHA:183
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Obesity, Splenomegaly, Hepatic steatosi... OMIM:188400
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Umbilical her... ORPHA:800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Failure to thrive, Hypomagnesemia, Cholestasis, Elbow flexion contracture,... OMIM:619503
Ogden Syndrome
Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Microvesicular hepatic steatosis, Minimal ... OMIM:300855
Neuroblastoma, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:256700
Infantile Krabbe Disease
Cachexia, Failure to thrive, Shoulder girdle muscle weakness ORPHA:206436
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Keratitis, Increased tear production, Chemosis, Conjunctival hyperemia, Keratoconju... ORPHA:95455
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214100
Gerstmann-Straussler Disease
Weight loss, Lower limb muscle weakness OMIM:137440
Fatal Familial Insomnia
Weight loss OMIM:600072
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss ORPHA:677
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract OMIM:619869
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Costello Syndrome
Failure to thrive, Hypoglycemia, Achilles tendon contracture, Macroglossia, Rhabdomyosarcoma OMIM:218040
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Camptodactyly of finger, Hypogonadism, Abnormality of the sp... ORPHA:1606
Lynch Syndrome
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Neoplasm of the live... ORPHA:144
Stüve-Wiedemann Syndrome
Lacrimation abnormality ORPHA:3206
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Myopathy OMIM:261740
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98849
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Pneumocystosis
Weight loss ORPHA:723
Meckel Syndrome
Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Slender build, Large for gestational age, Neonatal hypoglycemia ORPHA:457359
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hypogonadism, Slender build, Splenomegaly, Abnormal subcutaneous fat tis... ORPHA:1328
Monosomy 22Q13.3
Bruxism, Hyperactivity, Hair-pulling ORPHA:48652
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae ORPHA:709
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Weight loss, Flexion contracture, Enthesitis ORPHA:85408
Brucellosis
Failure to thrive, Hypersplenism, Abnormality of the liver, Splenomegaly, Hepatomegaly, Weight lo... ORPHA:1304
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Simple Cryoglobulinemia
Weight loss, Viral hepatitis ORPHA:91139
Imerslund-Gräsbeck Syndrome
Weight loss, Failure to thrive ORPHA:35858
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Neurofibromatosis Type 1
Heterochromia iridis, Cataract, Lisch nodules, Corneal opacity ORPHA:636
Dermatomyositis
Cellulitis, Elevated circulating hepatic transaminase concentration, Chondrocalcinosis, Inflammat... ORPHA:221
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:614866
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Postnat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Postnat... ORPHA:363958
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis OMIM:619934
Xeroderma Pigmentosum
Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the corneal stroma ORPHA:910
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... ORPHA:892
Acrodermatitis Enteropathica
Weight loss, Failure to thrive ORPHA:37
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Pancreatitis, Wei... ORPHA:36426
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Megalocornea ORPHA:280
Sarcoidosis, Susceptibility To, 1
Epiphora, Enlarged lacrimal glands OMIM:181000
Sarcoidosis
Hepatic failure, Decreased liver function, Diabetes insipidus, Portal hypertension, Abnormality o... ORPHA:797
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Pancreatitis, Wei... ORPHA:537
Postinfectious Vasculitis
Elevated haptoglobin level, Abnormal circulating protein concentration, Weight loss, Elevated cir... ORPHA:48435
Granulomatosis With Polyangiitis
Weight loss, Pancreatitis, Elevated circulating C-reactive protein concentration, Diabetes insipi... ORPHA:900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland, Skeletal muscle atrophy ORPHA:1969
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Hernia, Cachexia, Omphalocele ORPHA:3380
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Increased circulating surfactant protein level, Weight loss ORPHA:60025
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma ORPHA:818
Nocardiosis
Cellulitis, Peritonitis, Weight loss, Abnormality of the adrenal glands, Thyroiditis, Liver abscess ORPHA:31204
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Hereditary Late-Onset Parkinson Disease
Weight loss, Hypomimic face ORPHA:411602
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Rat-Bite Fever
Weight loss, Pancreatitis, Tendonitis ORPHA:31205
Riddle Syndrome
Weight loss, Elevated circulating alpha-fetoprotein concentration ORPHA:420741
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Gaucher Disease
Corneal opacity ORPHA:355
Familial Thrombocytosis
Weight loss, Splenomegaly ORPHA:71493
Fraser Syndrome 1
Corneal opacity OMIM:219000
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea OMIM:252500
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive ORPHA:1018
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Myositis, Weight loss, Nodular goiter, Thyroiditis, Retro... ORPHA:79078
Fanconi Anemia
Umbilical hernia, Hypogonadism, Abnormality of the liver, Weight loss, Abnormality of the hypotha... ORPHA:84
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Pyomyositis
Myositis, Weight loss ORPHA:764
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Cachexia, Subcutaneous lipoma ORPHA:79076
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatomegaly, Weight loss,... ORPHA:50918
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Hepatitis, Splenomegaly, Weight loss, Elevated circulating C-reactive protein co... OMIM:619381
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Weight loss ORPHA:79430
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Weight loss OMIM:301074
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Mend Syndrome
Short stature, Abnormal social behavior, Failure to thrive, Cryptorchidism ORPHA:401973
Malt Lymphoma
Weight loss, Abnormality of the thyroid gland ORPHA:52417
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Abnormal social behavior ORPHA:309271
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Behçet Disease
Myositis, Weight loss, Pancreatitis, Splenomegaly ORPHA:117
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia ORPHA:808
Reactive Arthritis
Weight loss, Enthesitis ORPHA:29207
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Tuberous Sclerosis Complex
Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Parathyroid adenom... ORPHA:805
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip contracture, Bilateral camptoda... ORPHA:821
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Nijmegen Breakage Syndrome
Cachexia, Rhabdomyosarcoma, Skeletal muscle atrophy ORPHA:647
22Q11.2 Deletion Syndrome
Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Patent ductus... ORPHA:567
Chronic Graft Versus Host Disease
Flexion contracture, Elevated circulating hepatic transaminase concentration, Weight loss, Fasciitis ORPHA:99921
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Proteus Syndrome
Thymus hyperplasia, Decreased muscle mass, Myofibrillar myopathy, Neoplasm of the thymus, Abnorma... ORPHA:744
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Marfan Syndrome
Slender build, Cachexia, Skeletal muscle atrophy, Inguinal hernia ORPHA:558
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Splenomegaly, Cachexia, Hepatomegaly, Myocardial calcification ORPHA:75565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Slender build, Cachexia, Macroglossia ORPHA:828
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen OMIM:233450
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Keratitis, Corneal neovasculariz... OMIM:308205
Systemic Lupus Erythematosus
Weight loss ORPHA:536
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Yunis-Varon Syndrome
Sclerocornea, Cataract 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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PAC1 receptor modulation of freezing and flight behavior in periaqueductal gray. Genes, brain, and behavior (November 2023) Adcyap1r1tm1c(KOMP)Wtsi PMC10733566
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

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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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