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Gene: Gnas MGI:95777

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Gene Summary

Name:
GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus
Synonyms:
Gsa,  SCG6,  Gnas1,  Nespl,  P1,  Nesp,  Gs alpha,  neuroendocrine-specific Golgi protein p55 isoform 1,  Oedsml,  G alpha s,  Gnasxl,  Galphas,  Gs-alpha,  P2,  XLalphas,  Nesp55,  P3

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Gnastm1Jop HOM Early adult 7.39×10-05
increased heart weight Gnastm1Jop HOM Early adult 3.55×10-10
increased startle reflex Gnastm1Jop HOM Early adult 6.97×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Gnas 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.

The table below shows human diseases associated to Gnas by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:603233
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... ORPHA:94089
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... OMIM:612462
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... OMIM:103580
Pseudohypoparathyroidism Type 1A
Laryngeal dystonia, Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone leve... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79444
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Hypophosphatemia, Abnormal endocrine phys... ORPHA:562
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... OMIM:219080
Progressive Osseous Heteroplasia
Osteoarthritis, Abnormality of the parathyroid gland, Brachydactyly, Ectopic ossification in musc... ORPHA:2762
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Mccune-Albright Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Precocious puberty, Hyperth... OMIM:174800
Osseous Heteroplasia, Progressive
Growth delay OMIM:166350

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Uridine-Cytidineuria
Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:203330
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Pseudohypoparathyroidism Type 2
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... ORPHA:94090
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... ORPHA:280397
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Parathyroid agene... ORPHA:2239
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increased intraabdom... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites ORPHA:295
Lipedema
Lipedema, Edema OMIM:614103
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... ORPHA:435660
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... OMIM:200700
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Incre... OMIM:601198
Immunodeficiency 8
Hyperactivity OMIM:615401
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia OMIM:619073
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Lymphatic Malformation 12
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema... OMIM:620014
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertriglyceridemia, L... OMIM:615238
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Disproportionate short-limb short stature, Short femur, Short humerus, Rhizome... OMIM:600121
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Hypertriglyc... ORPHA:435651
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Inguinal hernia, Respiratory insufficiency, Hydrops fetalis, P... OMIM:600972
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ethanolaminosis
Cardiomegaly OMIM:227150
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... ORPHA:314811
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Indomethacin Embryofetopathy
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Card... ORPHA:1909
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis, Small for gestational age OMIM:619340
Multiple Epiphyseal Dysplasia With Robin Phenotype
Hypoplasia of the capital femoral epiphysis, Rhizomelia, Genu valgum, Intrauterine growth retarda... OMIM:601560
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... OMIM:619598
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Pyknoachondrogenesis
Stillbirth OMIM:265880
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyperphosphatemia, Hyper... OMIM:617994
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Pulmonic stenosis, Hydrops... ORPHA:2414
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Proportionate tall stature, I... ORPHA:528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Dehydration, Severe failure to thrive, Hyperglycemia OMIM:601410
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth OMIM:215045
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Short stature, Polyhydramnios, Dilated cardiomyopath... OMIM:300580
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Short Stature Due To Partial Ghr Deficiency
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... ORPHA:314802
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... ORPHA:94089
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Hydrops fetalis, Maternal diabetes, Tachypnea, Large for gestational age, F... ORPHA:45452
Muscular Hypertonia, Lethal
Respiratory distress, Decreased fetal movement, Pneumonia, Umbilical hernia OMIM:254120
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Autoimmune Hypoparathyroidism
Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic... ORPHA:36913
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... OMIM:612462
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Neonatal respiratory distress, Pulmonary arterial hype... OMIM:619003
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Small for gestational age, Abno... ORPHA:70589
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Hypogonadism, Insulin resistance, Diabe... OMIM:615381
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... OMIM:262700
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short stature, Short femur, Micrognathia, Wide capital... OMIM:147891
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia OMIM:619290
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Sialidosis Type 2
Inguinal hernia, Flexion contracture, Short stature, Hydrops fetalis, Pedal edema, Umbilical hern... ORPHA:87876
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Low-set, posteriorly rotated ears, ... ORPHA:163693
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diabetes mellitus OMIM:610717
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... OMIM:606407
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Growth dela... OMIM:262400
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Hypothyroidism, Ventricular septal defect, Patent foramen oval... OMIM:601005
Alpha-Heavy Chain Disease
Ascites, Hypocalcemia ORPHA:100025
Mehmo Syndrome
Inability to walk, Decreased response to growth hormone stimulation test, Small for gestational a... OMIM:300148
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow OMIM:309585
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Primary hy... ORPHA:99879
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyr... OMIM:616113
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Ascites OMIM:619433
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... OMIM:103580
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypothyroidism, Polyhydramnios, Hypertriglyceridemia, Anasarca, Ple... OMIM:618183
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus OMIM:144800
Phenylketonuria
Aminoaciduria ORPHA:716
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Familial Multiple Lipomatosis
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis ORPHA:2204
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Cellulitis, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insulin resistan... ORPHA:2348
Edema, Familial Idiopathic, Prepubertal
Edema, Diabetes mellitus OMIM:129840
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Intrauterine growth retardation, Cardiomyopathy, ... OMIM:608540
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Maternal diabetes, Loss of facial adipose tissue, Hypertriglyceridemia, Insulin-resi... ORPHA:79083
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites ORPHA:2123
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper... OMIM:612089
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypocalcemia, Hypothyroidism, Mitral valve prolapse, Lymphedema ORPHA:1563
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Decreased response to growth hormone stimulation test, Congenital hypoparathyroidis... OMIM:241410
Narcolepsy Type 1
Obesity ORPHA:2073
Infantile Sialic Acid Storage Disease
Failure to thrive, Fair hair, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly OMIM:269920
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Steatorrhea, Hypergonadotropic hypogonadism, Nonimmune hydrops fetalis, Tremor, Proteinur... OMIM:212065
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Eczema, Neonatal death, Camptodactyly, Pulmonary arterial hyper... OMIM:619751
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, L... ORPHA:1041
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age, Left ventricular hypertroph... OMIM:616733
Summitt Syndrome
Obesity OMIM:272350
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... ORPHA:453533
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Single umbilical artery ORPHA:3405
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Obesity ORPHA:85274
Glycogen Storage Disease Iv
Failure to thrive, Hydrops fetalis, Polyhydramnios, Edema, Arthrogryposis multiplex congenita, As... OMIM:232500
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short stature, ... ORPHA:1988
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Calciphylaxis
Secondary hyperparathyroidism, Hyperphosphatemia ORPHA:280062
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia ORPHA:2238
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Adamantinoma
Hypercalcemia ORPHA:55881
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... ORPHA:79086
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Small hand, Hypogonadotropic hypogonadism, Abnormal ulnar metaphysis morphology, P... ORPHA:177910
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Preeclampsia, Hydrops fetalis ORPHA:163596
Primary Lipodystrophy
Hyperlipidemia, Type II diabetes mellitus, Lipoatrophy, Lipodystrophy, Insulin resistance ORPHA:90970
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature ORPHA:2849
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea, ... OMIM:267450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Edema, Abnormal respiratory sys... ORPHA:101028
Bardet-Biedl Syndrome 22
Polydactyly, Large for gestational age, Polyphagia, Postaxial foot polydactyly, Hypogonadism, Obe... OMIM:617119
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia, Intrauterine growth retardation, Severe short stature OMIM:223500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... OMIM:618815
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Decre... ORPHA:280365
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Meconium Aspiration Syndrome
Premature rupture of membranes, Respiratory distress, Hypoxemia, Aspiration pneumonia, Postterm p... ORPHA:70588
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Achondrogenesis Type 1B
Severe short stature, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia... ORPHA:93298
Achondrogenesis
Severe short stature, Inguinal hernia, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnio... ORPHA:932
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Short stature, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Obesity OMIM:614947
Mulibrey Nanism
Myocardial fibrosis, Short stature, Hydrops fetalis, Enamel hypoplasia, Growth delay, Ascites, In... OMIM:253250
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... OMIM:246200
Mental Retardation, X-Linked 91
Obesity, Low posterior hairline OMIM:300577
Hypervitaminosis A, Susceptibility To
Ascites, Hypercalcemia OMIM:240150
Gcgr-Related Hyperglucagonemia
Glucagonoma, Increased glucagon level ORPHA:438274
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hydrops fetalis, Myocarditis, Polyhydramnios, Hepatitis, Pericar... ORPHA:292
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Congenital Analbuminemia
Hyperlipidemia, Facial edema, Hypoproteinemia, Small for gestational age, Increased alpha-globuli... ORPHA:86816
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia, Incr... ORPHA:157215
Hyperparathyroidism 4
Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:617343
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Autosomal Recessive Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyeb... ORPHA:261304
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Maternal Uniparental Disomy Of Chromosome 4
Sensorineural hearing impairment, Ataxia, Decreased body weight, Postnatal growth retardation, Dy... ORPHA:96180
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Gitelman Syndrome
Polydipsia, Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Re... ORPHA:358
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Dysphagia,... OMIM:619565
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Hernia of the abdominal wall, Low-set, posteriorly rotated ea... ORPHA:3055
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Pleural effusion, Edema, Generali... ORPHA:90362
Neurogenic Arthrogryposis Multiplex Congenita
Abnormal heart morphology, Hip contracture, Respiratory distress, Flexion contracture, Wrist flex... ORPHA:1143
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Small for gestational age, Short ribs, Osteopeni... OMIM:616897
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Hypocalcemia, Steatorrhea, Short stature, Macrocytic anemia, Enamel hy... OMIM:212750
Cortisone Reductase Deficiency 1
Obesity, Hirsutism, Alopecia OMIM:604931
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Protruding ear, Lipoma, Postnatal growth retardation, Spastic diplegia, Tremor, Hearing impairmen... ORPHA:480907
Schaaf-Yang Syndrome
Flexion contracture, Short stature, Small hand, Rocker bottom foot, Brachydactyly, Tapered finger... OMIM:615547
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Achondrogenesis Type 1A
Severe short stature, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia... ORPHA:93299
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Predominantly lower limb lymphedema, Absent eyebrow, Alopecia, Sparse body hai... ORPHA:69735
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... OMIM:612447
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... ORPHA:56304
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... ORPHA:157941
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Sensorineural hearing impairment, Ataxia, Inability to walk, Short stature, Wad... OMIM:616756
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... ORPHA:79237
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Laurence-Moon Syndrome
Sensorineural hearing impairment, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Short s... ORPHA:2377
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Camptodactyly of finger, Respiratory insufficiency, Rest... OMIM:614399
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... ORPHA:50251
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Neuraminidase Deficiency
Facial edema, Inguinal hernia, Short stature, Hydrops fetalis, Ascites, Cardiomyopathy, Cardiomegaly OMIM:256550
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema OMIM:200610
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity, Recurrent otitis media OMIM:615993
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Hyperph... ORPHA:457059
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cor pulmonale, Cough, Tachypnea, Respiratory failure OMIM:263000
Klippel-Trénaunay Syndrome
Atrial septal defect, Cellulitis, Respiratory insufficiency, Hydrops fetalis, Pulmonary embolism,... ORPHA:90308
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Tal... OMIM:608594
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... ORPHA:94068
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Fetal Gaucher Disease
Hydrops fetalis, Neonatal death, Stillbirth, Fetal akinesia sequence, Decreased fetal movement ORPHA:85212
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... ORPHA:100057
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Babinski sign, Parkinsonism, Wrist fle... OMIM:300055
Pearson Syndrome
Ataxia, Steatorrhea, Corneal stromal edema, Glycosuria, Proteinuria, Hypoplastic spleen, Pancytop... ORPHA:699
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... ORPHA:231144
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Eczema, Keratoconjunctivitis, Perioral eczema, Tachypnea, Desquam... ORPHA:79242
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morphology, Short statur... ORPHA:93160
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Dehydration, Myocarditis, Abnormal b... ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis, Severe short-limb dwarfism, Omphalocele ORPHA:1263
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Pseudohypoparathyroidism Type 1A
Laryngeal dystonia, Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone leve... ORPHA:79443
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79444
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Flexion contracture, Respiratory insufficiency, Nonimmun... ORPHA:367
11P15.4 Microduplication Syndrome
Obesity, Highly arched eyebrow, Synophrys ORPHA:300305
Potocki-Lupski Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Short stature, Abn... OMIM:610883
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Congenital hypoparathyroidism ORPHA:2323
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Mehmo Syndrome
Large earlobe, Hypertonia, Growth delay, Hypoplasia of penis, Micropenis, Diabetes mellitus, Obes... ORPHA:85282
Minicore Myopathy With External Ophthalmoplegia
Respiratory insufficiency, Hydrops fetalis, Increased connective tissue, Polyhydramnios, Decrease... OMIM:255320
Mucopolysaccharidosis, Type Vii
Loud snoring, Hirsutism, Airway obstruction, Thick eyebrow, Flexion contracture, Short stature, C... OMIM:253220
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Inguinal hernia, Tall s... ORPHA:10
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Bardet-Biedl Syndrome 2
Obesity, Hypogonadism, Diabetes mellitus OMIM:615981
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Short stature, Hypoplastic ilia, Congenital hip dislocatio... ORPHA:93333
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Central Precocious Puberty
Increased body weight, Abnormality of secondary sexual hair, Obesity, Overgrowth ORPHA:759
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Insulin resistance, Small for gestational age, Truncal obesity, Hypoglycemia, ... ORPHA:73272
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Alg8-Cdg
Failure to thrive, Small for gestational age, Oligohydramnios, Hydrops fetalis, Camptodactyly, Ed... ORPHA:79325
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... OMIM:254210
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:614963
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase co... OMIM:613327
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology, Stridor, Short stature ORPHA:2374
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Failure to thrive, Hypophosphatemia, Hypocalcemia, Short stature, ... ORPHA:289157
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Inguinal hernia, Elevated circulating propionylcarnitine concentration, Hypome... OMIM:614857
Immunodeficiency 61
Obesity OMIM:300310
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... ORPHA:785
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Alg12-Cdg
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Abnormal adipose ... ORPHA:79324
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... ORPHA:276435
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Oculoskeletodental Syndrome
Hypocalcemia, Cryptorchidism, Small for gestational age, Renal agenesis, Short stature, Splenomeg... OMIM:618440
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Edema... OMIM:617575
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersp... OMIM:610539
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Ataxia, Urinary bladder sphincter dysfunction, Tip-toe gait, Impaired vibration sen... OMIM:604360
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Failure to thrive, Hypocalcemia, Cellulitis, Short stature, Ane... ORPHA:47
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Double Outlet Right Ventricle
Hypoparathyroidism, Double outlet right ventricle, Hypocalcemia, Hypoplastic left heart, Pulmonic... ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Pulmonary edema, Hypocalcemic tetany, Dilated cardiomyopathy, Hyper... ORPHA:73224
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
Ring Chromosome 10 Syndrome
Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Renal hypoplasia/aplasia, Cachexia, L... ORPHA:1438
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Nonimmune hydrops fetalis, Neonatal death, Po... OMIM:608013
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... ORPHA:769
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Hypertrophic cardiomyopathy ORPHA:91130
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased connective tissue ORPHA:238329
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration ORPHA:3191
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, Edema ORPHA:79319
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder, Obesity, Enuresis, Fa... OMIM:613670
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Dehydration, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Ig
Polyhydramnios, Hypocalcemia, Patent foramen ovale, Edema OMIM:607143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Cardiomyopathy, Familial Hypertrophic 27
Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Nonimmune hydrops fetalis,... OMIM:618052
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Cystinosis
Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Hypothyroidism, Type I diabetes me... ORPHA:213
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hydrops fetalis, Ventricular septal defect, Omphalocele, Oligohydramnios, Intra... OMIM:617022
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Failure to thrive, Truncal obesity ORPHA:261483
Squalene Synthase Deficiency
Hypospadias, Low-set, posteriorly rotated ears, Increased circulating farnesol concentration, Hyp... OMIM:618156
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Small for gestational age, Respiratory insufficiency, Prenatal maternal abnorm... OMIM:609015
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Sensorineural hearing impairment, Ataxia, Short stature, Absent pubertal growth spurt, Puberty an... ORPHA:464282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance ORPHA:90154
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated circul... OMIM:101800
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia ORPHA:67046
Bardet-Biedl Syndrome 9
Polydipsia, Postaxial polydactyly, Brachydactyly, Polydactyly, Truncal obesity, Syndactyly, Posta... OMIM:615986
Rafiq Syndrome
Ataxia, Flexion contracture, Short stature, Cerebellar hypoplasia, Truncal obesity, Macrotia, Obe... OMIM:614202
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Oculocerebrodental Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hypocalcemia, Short stature, Ena... ORPHA:557003
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Abnormal mucociliary clearance, Respiratory distress, Chronic otitis media OMIM:619466
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Polyhydramnios, Lymphedema, Ascites, Th... OMIM:235255
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tip-toe gait, Hypoketotic hypoglycemia, Babinski sign, Frequent... ORPHA:746
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydramnios, Pneumon... ORPHA:596
Chilblain Lupus 1
Skin ulcer OMIM:610448
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Lymphedema, O... OMIM:601927
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia, Abnor... OMIM:307800
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Thanatophoric Dysplasia Type 1
Joint stiffness, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, Brachydactyly, Short ... ORPHA:1860
Gm1 Gangliosidosis
Failure to thrive, Generalized hirsutism, Hirsutism, Inguinal hernia, Short stature, Aspiration p... ORPHA:354
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189439
Combined Oxidative Phosphorylation Deficiency 54
Sensorineural hearing impairment, Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hypergo... OMIM:619737
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond... ORPHA:423
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Xerostomia, Hypokalemia OMIM:175500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Elevated circulating creatin... ORPHA:26793
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Congenital hypoparathyroidism, H... ORPHA:93325
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
Baralle-Macken Syndrome
Obesity, Hirsutism, Striae distensae OMIM:619255
Short Stature, Microcephaly, And Endocrine Dysfunction
Ataxia, Cerebellar vermis atrophy, Intrauterine growth retardation, Broad-based gait, Disproporti... OMIM:616541
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... ORPHA:411634
Short Syndrome