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
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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