Gene: Adcyap1 MGI:105094

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.

Human diseases associated with Adcyap1 (0 diseases)
Human diseases predicted to be associated with Adcyap1 (1504 diseases)

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
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy		Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Lisch Epithelial		Corneal dystrophy	OMIM:300778
Corneal Dystrophy, Endothelial, X-Linked		Corneal dystrophy, Corneal opacity, Band keratopathy	OMIM:300779
Dermoids Of Cornea		Corneal opacity	OMIM:304730
Hyperinsulinemic Hypoglycemia, Familial, 7		Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Glycogen Storage Disease Vi		Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc...	OMIM:232700
Corneal Dystrophy, Meesmann, 1		Corneal dystrophy, Punctate opacification of the cornea, Epiphora	OMIM:122100
Corneal Dystrophy, Meesmann, 2		Epiphora, Recurrent corneal erosions	OMIM:618767
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy		Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L...	ORPHA:293964
Epithelial Recurrent Erosion Dystrophy		Epiphora, Corneal erosion	OMIM:122400
Short Stature Due To Partial Ghr Deficiency		Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia	ORPHA:314802
Keratoendotheliitis Fugax Hereditaria		Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia, Epiphora	OMIM:148200
Alacrima, Congenital, Autosomal Recessive		Alacrima, Punctate corneal epithelial erosions	OMIM:601549
Corneal Dystrophy-Perceptive Deafness Syndrome		Corneal dystrophy, Corneal opacity	ORPHA:1490
Schnyder Corneal Dystrophy		Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois		Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Cornea Plana 1, Autosomal Dominant		Flat cornea	OMIM:121400
Glaucoma 3, Primary Congenital, D		Primary congenital glaucoma, Corneal opacity, Ectopia lentis	OMIM:613086
Cataract-Microcornea Syndrome		Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Microcornea, Glaucoma, And Absent Frontal Sinuses		Microcornea	OMIM:156700
Corneal Dystrophy, Groenouw Type I		Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Isolated Growth Hormone Deficiency, Type Ia		Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H...	OMIM:262400
Keratitis, Hereditary		Keratitis, Opacification of the corneal stroma	OMIM:148190
Hyperinsulinemic Hypoglycemia, Familial, 2		Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Corneal Dystrophy, Epithelial Basement Membrane		Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Familial Alzheimer-Like Prion Disease		Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi...	ORPHA:280397
Limbal Stem Cell Deficiency		Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin...	ORPHA:171673
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency		Myopathy, Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Hyperinsulinism Due To Insr Deficiency		Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Plin1-Related Familial Partial Lipodystrophy		Hepatic fibrosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan...	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
Short Stature Due To Ghsr Deficiency		Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia	ORPHA:314811
Herpes Simplex Virus Stromal Keratitis		Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha...	ORPHA:137599
Paragangliomas 6		Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Ring Dermoid Of Cornea		Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma...	OMIM:180550
Alacrima, Congenital, Autosomal Dominant		Lacrimal gland hypoplasia, Decreased lacrimation, Alacrima, Punctate corneal epithelial erosions	OMIM:103420
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency		Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:171706
Vernal Keratoconjunctivitis		Abnormal conjunctiva morphology, Punctate keratitis, Corneal neovascularization, Abnormal cornea ...	ORPHA:70476
Hyperinsulinemic Hypoglycemia, Familial, 5		Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy...	OMIM:609968
Monocyte Chemotactic Disorder		Cutaneous anergy	OMIM:252250
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency		Hypoglycemia	ORPHA:35701
X-Linked Corneal Dermoid		Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Immunodeficiency 18		Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome		Corneal dystrophy, Corneal opacity	ORPHA:3177
Morbid Obesity And Spermatogenic Failure		Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste...	OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 3		Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Corneal Dystrophy, Avellino Type		Lattice corneal dystrophy	OMIM:607541
Epithelial Recurrent Erosion Dystrophy		Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit...	ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 3		Corneal opacity, Corneal guttata, Corneal stromal edema	OMIM:613267
Immunodeficiency 24		Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci...	OMIM:615897
Macular Dystrophy, Corneal		Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Lipodystrophy, Congenital Generalized, Type 3		Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L...	OMIM:612526
Obesity Due To Melanocortin 4 Receptor Deficiency		Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel...	ORPHA:71529
Familial Pterygium Of The Conjunctiva		Opacification of the corneal stroma	ORPHA:2989
Pupillary Membrane, Persistence Of		Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Hyperinsulinism Due To Hnf1A Deficiency		Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr...	ORPHA:324575
Coronary Artery Disease, Autosomal Dominant, 1		Diabetes mellitus, Obesity, Hypercholesterolemia	OMIM:608320
Glucocorticoid Deficiency 2		Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Proteasome-Associated Autoinflammatory Syndrome 5		Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly	OMIM:619175
Neutral Lipid Storage Disease With Myopathy		Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato...	OMIM:610717
Galactosialidosis		Corneal opacity	ORPHA:351
Glucocorticoid Deficiency 3		Recurrent hypoglycemia	OMIM:609197
Dermochondrocorneal Dystrophy		Corneal dystrophy	ORPHA:79149
Corneal Dystrophy And Perceptive Deafness		Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Thiel-Behnke Corneal Dystrophy		Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor...	ORPHA:98960
Hyperinsulinism Due To Glucokinase Deficiency		Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Hypertriglyceridemia, Transient Infantile		Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega...	OMIM:614480
Thyroid Hormone Metabolism, Abnormal, 2		Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr...	OMIM:619855
Maturity-Onset Diabetes Of The Young, Type 3		Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Mucous Membrane Pemphigoid		Corneal opacity	ORPHA:46486
Hyperproinsulinemia		Hyperglycemia, Hyperinsulinemia	OMIM:616214
Lipodystrophy, Familial Partial, Type 4		Insulin resistance, Hepatic steatosis, Lipodystrophy, Skeletal muscle hypertrophy, Insulin-resist...	OMIM:613877
Glycogen Storage Disease 0, Liver		Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Retinal Telangiectasia And Hypogammaglobulinemia		Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Pituitary Hormone Deficiency, Combined, 4		Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ...	OMIM:262700
Lipodystrophy, Familial Partial, Type 1		Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t...	OMIM:608600
Lipe-Related Familial Partial Lipodystrophy		Proximal muscle weakness in lower limbs, Loss of gluteal subcutaneous adipose tissue, Insulin res...	ORPHA:435660
Spinocerebellar Degeneration And Corneal Dystrophy		Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Attention Deficit-Hyperactivity Disorder		Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Cidec-Related Familial Partial Lipodystrophy		Loss of gluteal subcutaneous adipose tissue, Calf muscle hypertrophy, Hepatic steatosis, Lipodyst...	ORPHA:435651
Prolactin Deficiency, Isolated		Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Spermatogenic Failure 14		Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Lipodystrophy, Familial Partial, Type 3		Cirrhosis, Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced ...	OMIM:604367
Corneal Dystrophy, Posterior Polymorphous, 1		Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Hypertriglyceridemia 2		Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Lipase Deficiency, Combined		Lipodystrophy, Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus	OMIM:246650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency		Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity	ORPHA:329249
Cataract 21, Multiple Types		Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor...	OMIM:610202
Microphthalmia, Isolated 2		Opacification of the corneal stroma	OMIM:610093
Corneal Dystrophy, Fuchs Endothelial, 1		Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy...	OMIM:136800
Hyperinsulinemic Hypoglycemia, Familial, 6		Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr...	OMIM:606762
Lattice Corneal Dystrophy Type I		Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys...	ORPHA:98964
Spermatogenic Failure, X-Linked, 4		Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Corneal Endothelial Dystrophy		Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat...	OMIM:217700
Hypoglycemia, Leucine-Induced		Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Growth Hormone Insensitivity Syndrome		Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu...	ORPHA:181393
Mandibuloacral Dysplasia		Hyperinsulinemia, Contractures of the large joints, Increased circulating free fatty acid level, ...	ORPHA:2457
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome		Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete...	ORPHA:436182
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia		Corneal dystrophy, Developmental cataract	OMIM:271320
Insulin Autoimmune Syndrome		Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia...	ORPHA:411593
Coronary Artery Disease, Autosomal Dominant 2		Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H...	OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 1		Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Macrosomia-Microphthalmia-Cleft Palate Syndrome		Corneal opacity, Microcornea	ORPHA:2432
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency		Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,...	ORPHA:71212
Neuropathy, Hereditary Sensory And Autonomic, Type Viii		Corneal scarring, Decreased lacrimation, Corneal ulceration	OMIM:616488
Akt2-Related Familial Partial Lipodystrophy		Insulin resistance, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponect...	ORPHA:79085
Congenital Disorder Of Glycosylation, Type Iip		Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos...	OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 10		Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,...	OMIM:619868
Lipodystrophy, Familial Partial, Type 6		Abnormal circulating lipid concentration, Lower limb muscle weakness, Muscular dystrophy, Insulin...	OMIM:615980
Intellectual Developmental Disorder, X-Linked, Syndromic 17		Anisocoria, Alacrima	OMIM:300858
Atherosclerosis Susceptibility		Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Cholesterol-Ester Transfer Protein Deficiency		Tendon xanthomatosis, Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidem...	ORPHA:79506
Cornea Plana 2, Autosomal Recessive		Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea	OMIM:217300
Sitosterolemia 2		Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia	OMIM:618666
Corneal Dystrophy, Lattice Type Iiia		Lattice corneal dystrophy, Corneal erosion	OMIM:608471
Maturity-Onset Diabetes Of The Young, Type 10		Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:613370
Glycogen Storage Disease Ixa1		Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H...	OMIM:306000
Corneal Dystrophy, Reis-Bucklers Type		Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy	OMIM:608470
Ovarian Dysgenesis 4		Decreased body weight, Decreased serum estradiol, Short stature, Primary amenorrhea, Elevated cir...	OMIM:616185
Post-Traumatic Pituitary Deficiency		Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu...	ORPHA:95619
Premature Ovarian Failure 17		Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm...	OMIM:619146
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency		Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free...	ORPHA:276575
Pituitary Hormone Deficiency, Combined, 2		Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, S...	OMIM:262600
Lipodystrophy, Familial Partial, Type 5		Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser...	OMIM:615238
Distal Myopathy, Tateyama Type		Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	ORPHA:488650
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone		Hypoglycemia	OMIM:223500
Neurotrophic Keratopathy		Corneal scarring, Corneal stromal edema, Astigmatism, Lacrimation abnormality, Corneal perforatio...	ORPHA:137596
X-Linked Endothelial Corneal Dystrophy		Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology	ORPHA:293621
Hypertriglyceridemia 1		Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv		Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:144600
Premature Ovarian Failure 1		Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Corneal Dystrophy, Fleck		Speckled corneal dystrophy	OMIM:121850
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency		Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:369
Fructose And Galactose Intolerance		Hypoglycemia	OMIM:229500
Posterior Polymorphous Corneal Dystrophy		Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Anterior Segment Dysgenesis 6		Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Reticular Dysgenesis		Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct...	OMIM:267500
Body Mass Index Quantitative Trait Locus 19		Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Hyperlipidemia, Hypertrigl...	OMIM:617885
Congenital Disorder Of Glycosylation, Type Iio		Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati...	OMIM:616828
Lipodystrophy, Familial Partial, Type 2		Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Hyperglycemia, Reduced s...	OMIM:151660
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells		Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Polyendocrine-Polyneuropathy Syndrome		Central hypothyroidism, Hypoglycemia, Hypogonadism	OMIM:616113
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency		Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ...	ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency		Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Increased adipose tis...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency		Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Increased adipose tis...	ORPHA:71526
Schizophrenia 15		Hyperactivity	OMIM:613950
Corneal Dystrophy, Fuchs Endothelial, 8		Corneal dystrophy, Corneal guttata	OMIM:615523
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive		Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Elevated circulating creat...	OMIM:616516
Anterior Segment Dysgenesis 7		Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Hyperinsulinemic Hypoglycemia, Familial, 4		Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Glycogen Storage Disease Iii		Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati...	OMIM:232400
Congenital Generalized Lipodystrophy		Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Adipose ti...	ORPHA:528
Premature Ovarian Failure 16		Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced...	OMIM:618723
Hypercholesterolemia, Familial, 4		Hypertriglyceridemia, Decreased LDL cholesterol concentration, Tendon xanthomatosis, Hypercholest...	OMIM:603813
Xanthomatosis, Susceptibility To		Hypercholesterolemia	OMIM:602247
Potocki-Lupski syndrome (17p11.2 duplication syndrome)		Hyperactivity	DECIPHER:19
Hyperinsulinism Due To Ucp2 Deficiency		Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,...	ORPHA:276556
Corneal Dystrophy, Fuchs Endothelial, 2		Corneal degeneration, Corneal guttata, Corneal dystrophy	OMIM:610158
Familial Partial Lipodystrophy, Köbberling Type		Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr...	ORPHA:79084
22q13 deletion syndrome (Phelan-Mcdermid syndrome)		Hyperactivity	DECIPHER:20
Hypoalphalipoproteinemia, Primary, 2		Cataract, Corneal arcus	OMIM:618463
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein		Abnormality of T cell physiology	OMIM:308220
Glycogen Storage Disease Ixc		Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ...	OMIM:613027
Granular Corneal Dystrophy Type Ii		Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ...	ORPHA:98963
Severe Neurodegenerative Syndrome With Lipodystrophy		Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ...	ORPHA:363400
Congenital Hereditary Endothelial Dystrophy Type Ii		Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co...	ORPHA:293603
Functioning Gonadotropic Adenoma		Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ...	ORPHA:91348
Hyperlipoproteinemia, Type Ii, And Deafness		Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Intellectual Developmental Disorder, Autosomal Recessive 3		Hyperactivity	OMIM:608443
Galactokinase Deficiency		Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation...	ORPHA:79237
Hypoinsulinemic Hypoglycemia With Hemihypertrophy		Neonatal hypoglycemia	OMIM:240900
Cholesteryl Ester Storage Disease		Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ...	ORPHA:75234
Hypothyroidism, Congenital, Nongoitrous, 8		Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Winchester Syndrome		Corneal opacity	OMIM:277950
Hypothyroidism, Central, With Testicular Enlargement		Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop...	OMIM:300888
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome		Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Premature Ovarian Failure 15		Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul...	OMIM:618096
Isolated Congenital Alacrima		Conjunctivitis, Corneal erosion, Alacrima, Lacrimal gland hypoplasia, Keratitis	ORPHA:91416
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency		Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol...	ORPHA:79644
Glycogen Storage Disease Ixd		Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi...	OMIM:300559
Corneal Dystrophy, Fuchs Endothelial, 6		Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal...	OMIM:613270
Intellectual Developmental Disorder, Autosomal Recessive 37		Hyperactivity, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome		Hyperactivity, Aggressive behavior	ORPHA:356996
Homozygous 11P15-P14 Deletion Syndrome		Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Smith-Magenis syndrome		Hyperactivity, Self-mutilation	DECIPHER:8
Fish-Eye Disease		Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Corneal Dystrophy, Fuchs Endothelial, 4		Corneal dystrophy, Corneal guttata	OMIM:613268
Stickler Syndrome Type 2		Cataract, Corneal opacity	ORPHA:90654
Bilateral Striopallidodentate Calcinosis		Corneal opacity	ORPHA:1980
Mitochondrial Complex Iv Deficiency, Nuclear Type 4		Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr...	OMIM:619048
Epilepsy, Progressive Myoclonic, 12		Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depress...	OMIM:619191
Peters Anomaly		Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Hyperinsulinism-Hyperammonemia Syndrome		Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy...	ORPHA:35878
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies		Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:619031
Megalocornea		Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Lipodystrophy, Partial, Acquired, Susceptibility To		Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Hepatic stea...	OMIM:608709
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome		Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Corneal Dystrophy, Congenital Stromal		Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy	OMIM:610048
Pparg-Related Familial Partial Lipodystrophy		Cirrhosis, Splenomegaly, Hyperuricemia, Maternal diabetes, Abnormality of skeletal muscle fiber s...	ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 34		Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ...	OMIM:617872
Rutherfurd Syndrome		Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Citrullinemia, Type Ii, Neonatal-Onset		Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat...	OMIM:605814
Candidiasis, Familial, 1		Cutaneous anergy	OMIM:114580
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial		Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Neonatal Hemochromatosis		Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase...	ORPHA:446
Diarrhea 7, Protein-Losing Enteropathy Type		Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome		Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul...	OMIM:615381
Glycerol Kinase Deficiency		Adrenal insufficiency, Muscular dystrophy, Adrenocortical hypoplasia, Small for gestational age, ...	OMIM:307030
Corneal Dystrophy, Thiel-Behnke Type		Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy	OMIM:602082
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee		Elevated hepatic transaminase, Mildly elevated creatine kinase, Hepatic steatosis, Foot dorsiflex...	OMIM:618400
Familial Partial Lipodystrophy, Dunnigan Type		Splenomegaly, Cellulitis, Abnormality of skeletal muscle fiber size, Insulin resistance, Hepatic ...	ORPHA:2348
3-Methylglutaconic Aciduria Type 1		Failure to thrive, Hypoglycemia, Hepatomegaly	ORPHA:67046
Granular Corneal Dystrophy Type I		Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c...	ORPHA:98962
Anterior Segment Dysgenesis 1		Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif...	OMIM:107250
Non-Functioning Pituitary Adenoma		Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci...	ORPHA:91349
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract		Cataract, Aniridia, Microcornea	OMIM:106230
Fuchs Endothelial Corneal Dystrophy		Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci...	ORPHA:98974
Macular Corneal Dystrophy		Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ...	ORPHA:98969
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome		Decreased fertility, Short stature, Absence of secondary sex characteristics, Anterior hypopituit...	ORPHA:2235
Short Chain Acyl-Coa Dehydrogenase Deficiency		Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur...	ORPHA:26792
Dystonia 11, Myoclonic		Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism	OMIM:159900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency		Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,...	ORPHA:26793
Intellectual Developmental Disorder, X-Linked 72		Hyperactivity	OMIM:300271
Hypergonadotropic Hypogonadism-Cataract Syndrome		Decreased fertility, Short stature, Absence of secondary sex characteristics, Increased circulati...	ORPHA:2410
Hyperinsulinism Due To Hnf4A Deficiency		Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ...	ORPHA:263455
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly		Hyperactivity, Irritability, Inability to walk	OMIM:616657
Premature Ovarian Failure 2A		Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate...	OMIM:300511
Lysosomal Acid Lipase Deficiency		Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,...	OMIM:278000
Ovarian Dysgenesis 10		Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619834
Keratoconus 1		Astigmatism, Keratoconus	OMIM:148300
Immunodeficiency 11		Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo...	OMIM:615206
Pituicytoma		Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Cataract 47		Cataract, Microcornea	OMIM:612018
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency		Hypoglycemia	OMIM:609016
Ovarian Dysgenesis 9		Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Wiskott-Aldrich Syndrome 2		Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency		Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr...	ORPHA:209902
Obesity Due To Congenital Leptin Deficiency		Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Obesity, D...	ORPHA:66628
Encephalopathy, Progressive, With Or Without Lipodystrophy		Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Hartnup Disorder		Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia	OMIM:234500
Acquired Generalized Lipodystrophy		Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hepati...	ORPHA:79086
Premature Ovarian Failure 14		Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618014
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency		Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Rhabdomyolysis, E...	ORPHA:370
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive		Conjunctivitis, Decreased lacrimation, Keratoconus	OMIM:242150
Ovarian Dysgenesis 5		Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary...	OMIM:617690
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency		Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Postprandial ...	ORPHA:2089
Pituitary Hormone Deficiency, Combined, 6		Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve...	OMIM:613986
Corneal Dystrophy, Posterior Polymorphous, 3		Corneal dystrophy, Corneal guttata	OMIM:609141
Adenohypophysitis		Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Glycogen Storage Disease Ixb		Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g...	OMIM:261750
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1		Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Anterior Segment Dysgenesis 2		Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor...	OMIM:610256
Insulinomatosis And Diabetes Mellitus		Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy...	OMIM:147630
Corticosterone Methyloxidase Type Ii Deficiency		Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Failure...	OMIM:610600
Niemann-Pick Disease, Type B		Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H...	OMIM:607616
Congenital Primary Aphakia		Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Obesity Due To Leptin Receptor Gene Deficiency		Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Obesity, D...	ORPHA:179494
Citrullinemia, Type Ii, Adult-Onset		Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc...	OMIM:603471
Panhypophysitis		Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Glaucoma 3, Primary Congenital, E		Megalocornea, Corneal stromal edema	OMIM:617272
Chylomicron Retention Disease		Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, EMG: myopathic abnormalities, H...	ORPHA:71
Leydig Cell Hypoplasia, Type I		Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism		Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism, Short ...	OMIM:300123
Fanconi-Bickel Syndrome		Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl...	ORPHA:2088
Glycosylphosphatidylinositol Biosynthesis Defect 17		Hypertriglyceridemia	OMIM:618010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency		Hypoglycemia, Hyperuricemia, Hyperlipidemia	ORPHA:364
Corneal Dystrophy, Gelatinous Drop-Like		Corneal dystrophy	OMIM:204870
Temple Syndrome		Precocious puberty, Flexion contracture, Small for gestational age, Obesity, Maturity-onset diabe...	OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 3		Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Prolactin Deficiency With Obesity And Enlarged Testes		Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation		Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa...	ORPHA:399805
Mitochondrial Complex Iii Deficiency, Nuclear Type 3		Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a...	OMIM:615158
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy		Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe...	ORPHA:98855
Laryngeal Neuroendocrine Tumor		Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla...	ORPHA:100083
Mitochondrial Complex Iii Deficiency, Nuclear Type 5		Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac...	OMIM:615160
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency		Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Rhabdomyolysis, K...	ORPHA:79240
Cataract 1, Multiple Types		Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea	OMIM:116200
Premature Ovarian Failure 20		Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:619938
Anterior Segment Dysgenesis 5		Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase		Alacrima	OMIM:240000
Ovarian Dysgenesis 1		Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Mody		Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis...	ORPHA:552
Rajab Interstitial Lung Disease With Brain Calcifications 2		Hypothyroidism, Decreased muscle mass, Hypopituitarism, Elevated hepatic transaminase, Hepatosple...	OMIM:619013
X-Linked Intellectual Disability, Van Esch Type		Short stature, Absence of secondary sex characteristics, Decreased testicular size, Type II diabe...	ORPHA:163976
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency		Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper...	OMIM:614736
Hemochromatosis, Neonatal		Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec...	OMIM:231100
Low Phospholipid-Associated Cholelithiasis		Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang...	ORPHA:69663
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability		Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon	ORPHA:1473
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency		Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased body weight, Elevated hepatic transa...	ORPHA:264580
Abdominal Obesity-Metabolic Syndrome 3		Hypercholesterolemia, Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal...	OMIM:615812
Dysbetalipoproteinemia		Hypothyroidism, Tendon xanthomatosis, Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancre...	ORPHA:412
Spinocerebellar Ataxia With Axonal Neuropathy Type 1		Distal amyotrophy, Hypoalbuminemia, Distal lower limb muscle weakness, Hypercholesterolemia	ORPHA:94124
Premature Ovarian Failure 18		Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Caspase 8 Deficiency		Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o...	OMIM:607271
Carnitine Palmitoyl Transferase 1A Deficiency		Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Skeletal ...	ORPHA:156
Glucocorticoid Deficiency 1		Abnormal response to ACTH stimulation test, Increased circulating ACTH level, Decreased circulati...	OMIM:202200
Developmental And Epileptic Encephalopathy 104		Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Huntington Disease-Like 1		Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness	OMIM:603218
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities		Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc...	OMIM:262190
Premature Ovarian Failure 8		Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Late-Onset Familial Hypoaldosteronism		Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Hyperkalemia,...	ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 52		Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad...	OMIM:619386
Transient Neonatal Diabetes Mellitus		Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa...	ORPHA:99886
Combined Oxidative Phosphorylation Deficiency 36		Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w...	OMIM:617950
Non-Acquired Isolated Growth Hormone Deficiency		Anterior hypopituitarism, Short stature	ORPHA:631
Congenital Disorder Of Glycosylation, Type Im		Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development		Opacification of the corneal stroma	OMIM:204850
Glucocorticoid Resistance, Generalized		Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A...	OMIM:615962
Premature Ovarian Failure 11		Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy		Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Hepatic steatosis, Increased intra...	ORPHA:280365
Spermatogenic Failure 28		Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated...	OMIM:618086
X-Linked Emery-Dreifuss Muscular Dystrophy		Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe...	ORPHA:98863
Dacryocystitis-Osteopoikilosis Syndrome		Lacrimation abnormality	ORPHA:1562
Medium Chain Acyl-Coa Dehydrogenase Deficiency		Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kin...	ORPHA:42
Lipodystrophy, Congenital Generalized, Type 4		Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ...	OMIM:613327
Emery-Dreifuss Muscular Dystrophy		Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy		Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe...	ORPHA:98853
Hemophagocytic Lymphohistiocytosis, Familial, 4		Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen...	OMIM:603552
Early-Onset Familial Hypoaldosteronism		Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Hyperkalemia,...	ORPHA:556030
Analbuminemia		Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr...	OMIM:616000
Bilateral Acute Depigmentation Of The Iris		Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio...	ORPHA:69736
3-Methylcrotonyl-Coa Carboxylase Deficiency		Hypoglycemia, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine concentr...	ORPHA:6
Primary Lipodystrophy		Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody...	ORPHA:90970
Spermatogenic Failure 77		Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn...	OMIM:620103
Keratoconus 9		Decreased corneal thickness, Keratoconus	OMIM:617928
Hyperlipidemia, Familial Combined, 3		Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In...	OMIM:144250
Abdominal Obesity-Metabolic Syndrome 4		Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles...	OMIM:618620
Microphthalmia, Syndromic 16		Sclerocornea	OMIM:611038
African Iron Overload		Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ...	ORPHA:139507
Keratoconus 6		Keratoconus	OMIM:614623
Keratoconus 5		Keratoconus	OMIM:614622
Keratoconus 8		Keratoconus	OMIM:614628
Keratoconus 7		Keratoconus	OMIM:614629
Laron Syndrome		Hypercholesterolemia, Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrin...	ORPHA:633
Ane Syndrome		Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re...	ORPHA:157954
Pituitary Hormone Deficiency, Combined Or Isolated, 1		Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc...	OMIM:613038
Insulin-Resistance Syndrome Type B		Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline...	ORPHA:2298
Panhypopituitarism, X-Linked		Pituitary dwarfism, Panhypopituitarism	OMIM:312000
D-Glyceric Aciduria		Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia	ORPHA:941
Hemochromatosis, Type 4		Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet...	OMIM:606069
Hypogonadism-Cataract Syndrome		Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona...	OMIM:240950
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation		Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Acth Deficiency, Isolated		Fasting hypoglycemia, Decreased circulating cortisol level, Adrenocorticotropic hormone deficienc...	OMIM:201400
Glycine Encephalopathy		Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness	OMIM:605899
Intellectual Disability-Alacrima-Achalasia Syndrome		Anisocoria, Alacrima	ORPHA:289483
Premature Ovarian Failure 6		Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:612310
Insulinoma		Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia...	ORPHA:97279
Premature Ovarian Failure 9		Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon...	OMIM:615724
Carnitine Palmitoyltransferase I Deficiency		Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h...	OMIM:255120
Spermatogenic Failure 75		Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,...	OMIM:619949
Neutral Lipid Storage Myopathy		Abnormal circulating creatine kinase concentration, Very long chain fatty acid accumulation, Chro...	ORPHA:98908
Cholestasis, Progressive Familial Intrahepatic, 8		Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies		Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Autosomal Dominant Keratitis		Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr...	ORPHA:2334
Lacrimal Duct Defect		Conjunctivitis, Dacryocystocele, Epiphora	OMIM:149700
Anterior Segment Dysgenesis 3		Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Early-Onset Schizophrenia		Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,...	ORPHA:96369
Brittle Cornea Syndrome 2		Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato...	OMIM:614170
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia		Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Pandas		Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A...	ORPHA:66624
Blue Cone Monochromatism		Corneal dystrophy	ORPHA:16
Intellectual Developmental Disorder, X-Linked 109		Impulsivity, Hyperactivity, Aggressive behavior, Agitation	OMIM:309548
Gangliocytoma		Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ...	ORPHA:251937
Amoebic Keratitis		Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Gómez-López-Hernández Syndrome		Corneal opacity	ORPHA:1532
Lymphoproliferative Syndrome, X-Linked, 2		Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple...	OMIM:300635
Citrullinemia Type Ii		Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ...	ORPHA:247585
Carnitine Deficiency, Systemic Primary		Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im...	OMIM:212140
Keratosis Pilaris Atrophicans		Epiphora	OMIM:604093
Premature Ovarian Failure 10		Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas...	OMIM:612885
Familial Chylomicronemia Syndrome		Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, D...	ORPHA:444490
Hyperlysinemia, Type I		Hyperactivity, Cognitive impairment	OMIM:238700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1		Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed...	OMIM:616033
Corneal Dystrophy, Posterior Amorphous		Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Acquired Partial Lipodystrophy		Hepatic steatosis, Lipoatrophy, Myopathy, Insulin resistance	ORPHA:79087
Donohue Syndrome		Hepatic fibrosis, Precocious puberty, Hyperinsulinemia, Hyperglycemia, Adipose tissue loss, Skele...	OMIM:246200
Lecithin:Cholesterol Acyltransferase Deficiency		Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Mandibuloacral Dysplasia With Type A Lipodystrophy		Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Hyp...	OMIM:248370
Body Mass Index Quantitative Trait Locus 20		Hyperinsulinemia, Obesity	OMIM:618406
Mpi-Cdg		Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,...	ORPHA:79319
Tangier Disease		Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholesterol concentration, Hepatomeg...	OMIM:205400
Diabetes Mellitus, Transient Neonatal, 1		Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Mandibuloacral Dysplasia With Type B Lipodystrophy		Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Gener...	OMIM:608612
Papular Xanthoma		Hyperlipidemia	ORPHA:158008
Male Infertility With Teratozoospermia Due To Single Gene Mutation		Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
Pyruvate Dehydrogenase E3 Deficiency		Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc...	ORPHA:2394
Cog4-Cdg		Cirrhosis, Limb hypertonia, Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolem...	ORPHA:263501
Combined Oxidative Phosphorylation Deficiency 16		Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615395
Non-Acquired Panhypopituitarism		Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	ORPHA:90695
Ovarian Dysgenesis 8		Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618187
Hyperprolinemia, Type I		Hyperactivity, Aggressive behavior, Ataxia	OMIM:239500
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency		Failure to thrive, Hypoglycemia	OMIM:610090
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form		Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr...	ORPHA:228305
Congenital Isolated Acth Deficiency		Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti...	ORPHA:199296
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome		Lacrimation abnormality	ORPHA:1484
Fraxe Intellectual Disability		Hyperactivity, Impulsivity, Aggressive behavior, Agitation	ORPHA:100973
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15		Diastasis recti, Decreased body weight, Small for gestational age, Neonatal hypoglycemia, Hypogly...	ORPHA:231140
Paroxysmal Extreme Pain Disorder		Lacrimation abnormality	OMIM:167400
Lipodystrophy, Congenital Generalized, Type 1		Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me...	OMIM:608594
Isobutyryl-Coa Dehydrogenase Deficiency		Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitine	ORPHA:79159
Resistance To Thyrotropin-Releasing Hormone Syndrome		Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Lennox-Gastaut Syndrome		Hyperactivity, Aggressive behavior, Falls, Mental deterioration, Personality disorder	ORPHA:2382
Chromosome Xq27.3-Q28 Duplication Syndrome		Hypogonadism, Short stature, Small for gestational age, Decreased testicular size, Increased circ...	OMIM:300869
Atopic Keratoconjunctivitis		Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis	ORPHA:163934
Larsen-Like Osseous Dysplasia-Short Stature Syndrome		Corneal opacity	ORPHA:2370
Morgagni-Stewart-Morel Syndrome		Hypothyroidism, Hyperuricemia, Obesity, Diabetes mellitus, Abnormality of the thyroid gland, Hype...	ORPHA:77296
Cataract 17, Multiple Types		Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea	OMIM:611544
Hepatic Lipase Deficiency		Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Propionic Acidemia		Hypoglycemia, Hyperammonemia, Hepatomegaly	ORPHA:35
Premature Ovarian Failure 13		Elevated circulating follicle stimulating hormone level, Female infertility, Amenorrhea, Oligomen...	OMIM:617442
Isolated Growth Hormone Deficiency, Type Iv		Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Impaired gr...	OMIM:618157
Retinitis Pigmentosa		Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity	ORPHA:791
Dihydrolipoamide Dehydrogenase Deficiency		Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li...	OMIM:246900
Sheehan Syndrome		Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Impotence, ...	ORPHA:91355
Apolipoprotein C-Ii Deficiency		Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest...	OMIM:207750
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia		Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre...	ORPHA:189427
Combined Oxidative Phosphorylation Deficiency 21		Hyperalaninemia, Limb hypertonia, Hepatic steatosis, Hyperprolinemia, Neonatal death	OMIM:615918
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1		Cataract, Microcornea	OMIM:619082
Mitochondrial Pyruvate Carrier Deficiency		Hypoglycemia, Increased serum pyruvate, Hepatomegaly	OMIM:614741
Classic Progressive Supranuclear Palsy Syndrome		Decreased lacrimation, Conjunctival hyperemia	ORPHA:240071
X-Linked Intellectual Disability, Cilliers Type		Short stature, Absence of secondary sex characteristics, Decreased testicular size, Shyness, Male...	ORPHA:163971
Ovarian Dysgenesis 3		Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo...	OMIM:614324
Protoporphyria, Erythropoietic, 1		Hepatic failure, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Polyendocrine-Polyneuropathy Syndrome		Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Premature Ovarian Failure 7		Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l...	OMIM:612964
Bangstad Syndrome		Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l...	ORPHA:1227
Combined Malonic And Methylmalonic Acidemia		Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidemia, Failure to thrive, ...	ORPHA:289504
Endocardial Fibroelastosis		Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Hypobetalipoproteinemia, Familial, 1		Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat...	OMIM:615558
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic		Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge...	OMIM:261680
2P21 Microdeletion Syndrome		Failure to thrive, Hypocalcemia, Hypogonadism, Hypoglycemia	ORPHA:163693
Alstrom Syndrome		Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul...	OMIM:203800
Blue Diaper Syndrome		Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat...	ORPHA:94086
Griscelli Syndrome, Type 2		Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Familial Apolipoprotein Gene Cluster Deletion Syndrome		Corneal arcus	OMIM:620058
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease		Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly	OMIM:613101
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency		Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 2		Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me...	OMIM:269700
Familial Dysautonomia		Abnormal pupil morphology, Corneal erosion, Alacrima, Heterochromia iridis, Corneal opacity	ORPHA:1764
Seckel Syndrome 10		Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur...	OMIM:617253
Primary Pigmented Nodular Adrenocortical Disease		Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab...	ORPHA:189439
Obesity Due To Sim1 Deficiency		Hyperinsulinemia, Obesity, Glucose intolerance	ORPHA:369873
Mucolipidosis Type Iii		Corneal opacity	ORPHA:577
Congenital Disorder Of Glycosylation, Type Ib		Hepatic failure, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Steatorrhea, Failure...	OMIM:602579
Immunodeficiency 81		Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)		Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypertaurinemia, El...	OMIM:245400
Fatty Liver Disease, Susceptibility To, 1		Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2		Hepatic steatosis	OMIM:613387
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome		Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity	ORPHA:3085
Hyperlipoproteinemia, Type Id		Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem...	OMIM:615947
Neuropathy, Hereditary Motor And Sensory, Okinawa Type		Proximal amyotrophy, Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome		Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ...	OMIM:617241
Mannosidosis, Beta A, Lysosomal		Hyperactivity, Aggressive behavior	OMIM:248510
Short Stature, Dauber-Argente Type		Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Lipodystrophy Due To Peptidic Growth Factors Deficiency		Abnormal circulating lipid concentration, Flexion contracture, Weight loss, Reduced subcutaneous ...	ORPHA:1979
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia		Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell...	OMIM:300853
Mehmo Syndrome		Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi...	OMIM:300148
3-Methylglutaconic Aciduria Type 4		Decreased liver function, Failure to thrive, Hypoglycemia	ORPHA:67048
Neutral Lipid Storage Disease With Ichthyosis		Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Increased intr...	ORPHA:98907
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux		Alacrima	OMIM:608088
Combined Oxidative Phosphorylation Deficiency 40		Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly...	OMIM:618835
Perrault Syndrome 3		Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute...	OMIM:614129
Idiopathic Achalasia		Decreased prealbumin level, Weight loss	ORPHA:930
Riboflavin Deficiency		Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Pituitary Apoplexy		Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:95613
Combined Oxidative Phosphorylation Deficiency 42		Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly...	OMIM:618839
Cholestasis, Progressive Familial Intrahepatic, 5		Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice...	OMIM:617049
46,Xy Sex Reversal 11		Primary amenorrhea, Elevated circulating luteinizing hormone level, Absence of pubertal developme...	OMIM:273250
Perlman Syndrome		Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Abnormal pancreas morphology, Femoral hernia	ORPHA:2849
Phenylketonuria		Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety...	OMIM:261600
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14		Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes...	ORPHA:96184
Patent Ductus Venosus		Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function	OMIM:601466
Cholestasis-Lymphedema Syndrome		Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg...	OMIM:214900
Landau-Kleffner Syndrome		Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional...	ORPHA:98818
Bdv Syndrome		Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Juvenile Huntington Disease		Gait ataxia, Hyperactivity, Dementia, Ataxia, Depression, Progressive cerebellar ataxia, Irritabi...	ORPHA:248111
Ornithine Transcarbamylase Deficiency		Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia	ORPHA:664
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant		Corneal opacity, Developmental cataract	OMIM:618815
Mucolipidosis Iv		Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Dicarboxylic Aminoaciduria		Fasting hypoglycemia	OMIM:222730
Congenital Analbuminemia		Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem...	ORPHA:86816
Proprotein Convertase 1/3 Deficiency		Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity	OMIM:600955
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2		Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl...	OMIM:619418
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome		Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor...	ORPHA:3077
Edict Syndrome		Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus	OMIM:614303
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5		Rhabdomyolysis, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia,...	OMIM:618120
Chromosome 3Q29 Deletion Syndrome		Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety	OMIM:609425
Generalized Eruptive Keratoacanthoma		Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
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		Flexion contracture, Elevated hepatic transaminase, Myositis, Lipodystrophy, Failure to thrive, H...	OMIM:617591
Pituitary Adenoma 1, Multiple Types		Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact...	OMIM:102200
Hyperlipoproteinemia, Type I		Splenomegaly, Jaundice, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi...	OMIM:238600
Pyridoxal Phosphate-Responsive Seizures		Abnormal circulating threonine concentration, Abnormal circulating arginine concentration, Abnorm...	ORPHA:79096
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency		Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Precocious Puberty, Central, 1		Hypothyroidism, Isosexual precocious puberty, Short stature, Elevated circulating luteinizing hor...	OMIM:176400
Cataract 2, Multiple Types		Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c...	OMIM:604307
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency		Adrenogenital syndrome, Adrenal hyperplasia, Hypoglycemia	OMIM:201910
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities		Hyperactivity, Aggressive behavior, Broad-based gait	OMIM:619470
Adrenocortical Carcinoma		Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic...	ORPHA:1501
Neuropathy, Hereditary Sensory And Autonomic, Type Iii		Recurrent corneal erosions, Corneal ulceration, Alacrima	OMIM:223900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile		Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con...	OMIM:600649
Parenteral Nutrition-Associated Cholestasis		Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau...	ORPHA:567983
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of		Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat...	OMIM:201450
Isolated Follicle Stimulating Hormone Deficiency		Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr...	ORPHA:52901
Pyruvate Carboxylase Deficiency		Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly	OMIM:266150
Developmental And Epileptic Encephalopathy 43		Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia	OMIM:617113
Combined Oxidative Phosphorylation Deficiency 41		Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618838
Mantle Cell Lymphoma		Splenomegaly, Weight loss	ORPHA:52416
Pulmonary Blastoma		Weight loss	ORPHA:64741
Isolated Optic Nerve Hypoplasia/Aplasia		Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:137902
Solitary Fibrous Tumor/Hemangiopericytoma		Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic...	ORPHA:2126
Hemophagocytic Lymphohistiocytosis, Familial, 1	</

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