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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy, Epiphora OMIM:122100
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions, Epiphora OMIM:618767
Epithelial Recurrent Erosion Dystrophy
Corneal erosion, Epiphora OMIM:122400
Alacrima, Congenital, Autosomal Recessive
Alacrima, Punctate corneal epithelial erosions OMIM:601549
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiphora OMIM:148200
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia, Myopathy ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Epiphor... ORPHA:171673
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Fasting ... ORPHA:263458
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
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
Hyperactivity, Short attention span OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Alacrima, Congenital, Autosomal Dominant
Alacrima, Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Decreased lacrimation OMIM:103420
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic seizures, Elevated circulat... OMIM:609968
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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Increased LDL c... OMIM:615703
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Epiphora, Corneal dystrophy, Subepithelial corneal opacities, Corneal... ORPHA:293381
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Hypoglycemic seizures OMIM:602485
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, R... OMIM:612526
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... ORPHA:324575
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Galactosialidosis
Corneal opacity ORPHA:351
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Insulin resistance... 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
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Epiphora, Band keratopathy, Iris atrophy, Corneal opacit... OMIM:122000
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Schizophrenia 15
Hyperactivity OMIM:613950
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc... ORPHA:435660
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Glucos... ORPHA:2457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... OMIM:619868
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia,... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Epiphora, Central opacification of the cornea, Conjunctival amyloidos... ORPHA:98957
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Marsili Syndrome
Lacrimation abnormality, Corneal scarring OMIM:147430
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Sk... ORPHA:435651
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Decreased lacrimation, Corneal ulceration OMIM:616488
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hyperlipidemia, Elevated circulatin... OMIM:615980
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Sitosterolemia 2
Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Elevated circulating follicle stimulating hormone level, Pr... OMIM:616185
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Alacrima, Anisocoria OMIM:300858
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Herpes Simplex Virus Stromal Keratitis
Epiphora, Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyp... ORPHA:137599
Isolated Congenital Alacrima
Corneal erosion, Lacrimal gland hypoplasia, Keratitis, Conjunctivitis, Alacrima ORPHA:91416
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr... ORPHA:71526
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyperli... OMIM:232400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Increased LDL cholesterol concentration, Elbow flexion ... OMIM:616516
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Precocious puberty in femal... ORPHA:528
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... OMIM:617872
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Reduc... ORPHA:363400
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... OMIM:603813
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Winchester Syndrome
Corneal opacity OMIM:277950
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Vernal Keratoconjunctivitis
Corneal neovascularization, Epiphora, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punc... ORPHA:70476
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:619048
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Loss of trun... OMIM:608709
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Maternal diabetes, Abnormality of ske... ORPHA:79083
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Elevated circulating acylcarnitine concentration, Hepati... ORPHA:26792
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fib... ORPHA:2348
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Short ... ORPHA:2410
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Ele... ORPHA:263455
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:615160
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Cataract 47
Cataract, Microcornea OMIM:612018
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Hepa... ORPHA:79086
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased lacrimation, Conjunctivitis OMIM:242150
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... ORPHA:95513
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea OMIM:617272
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Aids Wasting Syndrome
Cachexia, Skeletal muscle atrophy, Weight loss, Abnormal gonadotropin-releasing hormone concentra... ORPHA:90081
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Fail... OMIM:610600
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Panhypopitu... OMIM:300123
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Ab... ORPHA:552
Hydroa Vacciniforme
Keratitis, Epiphora ORPHA:330058
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, De... OMIM:619013
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... OMIM:616222
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Shor... ORPHA:163976
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Intellectual Disability-Alacrima-Achalasia Syndrome
Alacrima, Anisocoria ORPHA:289483
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:98855
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hypoglycemia, Hyperammo... ORPHA:6
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Elevated circulating carcinoembryonic antigen concentration, ... ORPHA:100083
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia ORPHA:94124
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failure to thrive, ... OMIM:617950
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Dysbetalipoproteinemia
Hypertriglyceridemia, Tendon xanthomatosis, Xanthelasma, Decreased HDL cholesterol concentration,... ORPHA:412
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure ... OMIM:614736
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Glucocorticoid Deficiency 1
Abnormal circulating renin, Failure to thrive, Decreased circulating cortisol level, Abnormal cir... OMIM:202200
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosi... OMIM:231100
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Increased circulating free fatty acid level, Hypoketotic hypoglycemia OMIM:610768
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hyperinsulinemia, Elevated circulating hepatic transami... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Precocious puberty, Hyperglyc... OMIM:262190
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Proxima... ORPHA:280365
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:98863
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:98853
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, ... ORPHA:444490
Blue Cone Monochromatism
Corneal dystrophy ORPHA:16
Panhypopituitarism, X-Linked
Pituitary dwarfism, Panhypopituitarism OMIM:312000
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest... ORPHA:633
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Obesity, Hyperinsulinemia, Reduced social reciprocity ORPHA:329249
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Dietary Iron Overload Disease
Abnormal adrenal morphology, Increased circulating ferritin concentration, Hepatomegaly, Abnormal... ORPHA:139507
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Hepatomegaly, Elevated circulating hepatic... ORPHA:98908
Acth Deficiency, Isolated
Adrenal hypoplasia, Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotrop... OMIM:201400
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Elev... OMIM:606069
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Hyperammonemia, Nodular regenerat... OMIM:620454
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Reduced social reciprocity, Increased serum serotonin OMIM:608636
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Reduced muscle carnitine level, Micr... OMIM:212140
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Lacrimal Duct Defect
Dacryocystocele, Epiphora, Conjunctivitis OMIM:149700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Decreased response... ORPHA:90695
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Combined Oxidative Phosphorylation Deficiency 21
Limb hypertonia, Hyperalaninemia, Neonatal death, Hyperprolinemia, Hepatic steatosis OMIM:615918
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly ORPHA:35
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Limb hypertonia, Hepatospleno... ORPHA:263501
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Growth... ORPHA:99832
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Portal hypertension, Hypot... ORPHA:79319
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t... ORPHA:77296
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Hyponatremia, Prolonged neonata... ORPHA:199296
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased circulating car... ORPHA:79159
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoket... ORPHA:228305
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Combined Malonic And Methylmalonic Acidemia
Methylmalonic acidemia, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:289504
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... OMIM:618157
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly OMIM:614741
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous... OMIM:248370
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Decreased body weight, Diastasis recti, Hypoglycemia, Small for gestationa... ORPHA:231140
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:608594
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality ORPHA:1484
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Decreased testicular size, Hypogonadism, Intrauterine growth retardation, Abdomina... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Short stature, Failure ... ORPHA:163971
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... OMIM:617442
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Reduced circulating prolactin concentration, Pitui... ORPHA:91355
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima OMIM:608088
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorm... ORPHA:369840
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Premature Ovarian Failure 7
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612964
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Decreased lacrimation ORPHA:240071
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Familial Dysautonomia
Corneal erosion, Corneal opacity, Heterochromia iridis, Alacrima, Abnormal pupil morphology ORPHA:1764
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Elevated circulating alanine aminotransferase concentration, Failure to thrive, ... OMIM:245400
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Hypoglycemia, Hypogonadism ORPHA:163693
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Lennox-Gastaut Syndrome
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Landau-Kleffner Syndrome
Steppage gait, Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention ... ORPHA:98818
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Proximal amyotrophy, Hyperglycemia OMIM:604484
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:269700
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Lipoatrophy, Cachexia, Reduced subcutaneous adipose tis... ORPHA:1979
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hyperammonemia, Rh... OMIM:618120
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
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly, Hepatic failure ORPHA:664
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie... ORPHA:71
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:613101
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Lacrimoauriculodentodigital Syndrome 2
Alacrima, Conjunctivitis OMIM:620192
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Idiopathic Achalasia
Decreased circulating prealbumin concentration, Weight loss ORPHA:930
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Failure to thrive, Hypoalbum... OMIM:602579
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... OMIM:300148
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, De... ORPHA:631
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... OMIM:610717
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ... ORPHA:96184
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly OMIM:620282
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Elevated circulating creatine kinase concentration, Decreased circulati... OMIM:618835
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Failure to thri... OMIM:617049
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Elevated circulating creatine kinase concentration, Decreased circulati... OMIM:618839
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat... OMIM:273250
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Alacrima, Corneal ulceration OMIM:223900
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, Hypoglycemia ORPHA:67048
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnor... ORPHA:79096
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
Pyruvate Carboxylase Deficiency
Hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Hepatomegaly OMIM:266150
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depression, Gait at... ORPHA:248111
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Precocious Puberty, Central, 1
Isosexual precocious puberty, Short stature, Hypothyroidism, Elevated circulating follicle stimul... OMIM:176400
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pann... OMIM:617591
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Pulmonary Blastoma