Gene Summary

Name:
insulin receptor substrate 1
Synonyms:
IRS-1,  G972R

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Irs1em1(IMPC)H HOM   Early adult 0.00

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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 Irs1 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 Irs1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853

The table below shows human diseases predicted to be associated to Irs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Delayed puberty, Decreased serum insulin-like growth factor 1,... OMIM:615961
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Insulin resistance, Growth delay, Truncal obesity, ... ORPHA:140941
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension... OMIM:610947
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Restricted chest movement OMIM:260530
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertension, Myocardial infarction,... OMIM:615703
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615270
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Short stature, Type II diabetes mellitus, Fail... ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Complete duplication of the distal phalanges of the hand, Hype... ORPHA:1879
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Hyperglycemia, Transient neonatal diab... OMIM:601410
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71526
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Joint laxity, Delayed puberty, Do... OMIM:616033
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Short stature, Obesity ORPHA:329249
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Transient neonatal diabe... ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Short stature, Impaired ... OMIM:262700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine growth retardation, Hyp... OMIM:613370
Temple Syndrome
Joint hypermobility, Maturity-onset diabetes of the young, Hypercholesterolemia, Overweight, Flex... OMIM:616222
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Flared fem... OMIM:609324
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceride... OMIM:232700
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hypertension, Hepatic fibrosis, Hypertriglyceridemia, Abnorm... ORPHA:280356
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, Bowing of the l... ORPHA:2501
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Knee osteoarthri... ORPHA:93356
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Hypertension, Pes cavus, Carpal osteolysis, Ankle s... OMIM:166300
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypercholesterolemia, Hypertension OMIM:608320
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Short metacar... OMIM:226900
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Long fo... ORPHA:528
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck... OMIM:609325
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Hypertension OMIM:613877
Pseudoachondroplasia
Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finger, Flat ace... ORPHA:750
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyse... ORPHA:440354
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Insulin resistance, Hypoglycemia, Clinodactyly of the 5th finger, Truncal obesity, ... ORPHA:73272
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Insulin resistance, Micrognathia, Hepatic steatosis, Flexion contracture, Hepatomeg... OMIM:615381
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Maternal diabetes, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Short stature, Hypogonadism OMIM:616113
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Senior-Loken Syndrome
Cone-shaped epiphysis, Congenital hepatic fibrosis, Hypertension, Abnormality of bone mineral den... ORPHA:3156
Glycerol Kinase Deficiency
Osteoporosis, Adrenocortical hypoplasia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemi... OMIM:307030
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase conce... OMIM:610717
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Decreased respon... OMIM:618160
Osteoporosis
Osteoporosis OMIM:166710
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Abnormal cardiovascular syste... ORPHA:79086
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Stuve-Wiedemann Syndrome
Short phalanx of finger, Pathologic fracture, Pulmonary arterial hypertension, Micrognathia, Femo... OMIM:601559
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Orthostatic hypotension, Insulin resistance, Impaired ... OMIM:606721
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Juvenile Paget Disease
Osteoporosis, Bowing of the long bones, Recurrent fractures, Hyperuricemia, Hypertension, Coarse ... ORPHA:2801
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Adducted thumb, S... OMIM:616897
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased L... OMIM:616516
Thalidomide Embryopathy
Anotia, Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Insulin resistance, S... ORPHA:3312
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hypertriglyc... OMIM:608600
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Joint hypermobilit... ORPHA:356961
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:600081
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Short toe, ... ORPHA:3085
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Hypertension, Short metacarpal, Brachydactyly OMIM:112410
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Placental Insufficiency
Intrauterine growth retardation, Small for gestational age, Insulin resistance, Proportionate sho... ORPHA:439167
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Micrognathia, Rhizomeli... OMIM:108720
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Osteolysis, Abnormality of epiphysis morphology, Ab... ORPHA:970
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:79085
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Femoral bowing, Enlargement of the ankles, Subperiosteal bone resorption, Dela... OMIM:264700
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc... OMIM:271530
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Rickets, Postprandial hyperglycemia, Impaired glucose tol... ORPHA:2088
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly, Diabetes mellitus, Hepatosplen... OMIM:612526
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th toe, Hypertriglyceridemia, Clinodactyly of the 5th finger OMIM:618010
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur, Omphalocele OMIM:601357
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion contracture, Atria... OMIM:613327
Potocki-Shaffer Syndrome
Hypothyroidism, Hypertension, Delayed puberty, Decreased skull ossification, Anemia, Micrognathia ORPHA:52022
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Femoral bowing, Enlargement of the ankles, Subperiosteal bone resorption, Dela... OMIM:277440
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Failure to thrive, Flattened epiphysis, Abnormality of the metaphysis, Osteo... ORPHA:157965
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hyperuricemia, Insulin-resista... OMIM:604367
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased urinary cortisol level, Decreased circulating ACTH level, Increased circu... OMIM:615954
Buschke-Ollendorff Syndrome
Craniosynostosis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Abnormal bone st... ORPHA:1306
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Overweight, Hypoketotic hypoglycemia, Elevated circula... ORPHA:26793
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hypertension, Hepatomegaly, H... ORPHA:363400
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Incre... OMIM:615830
Acquired Partial Lipodystrophy
Lymphocytosis, Hearing impairment, Lipoatrophy, Insulin resistance ORPHA:79087
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Estrogen Resistance Syndrome
Osteoporosis, Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Ab... ORPHA:785
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hyperlipidemia, Hepatic fibrosis... ORPHA:369
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Congenital generalized lipodystrophy, Slender long bones with narrow ... OMIM:608154
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Ivic Syndrome
Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar... OMIM:147750
Spastic Paraplegia-Nephritis-Deafness Syndrome
Clinodactyly of the 5th finger, Hypertension ORPHA:2820
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Microret... OMIM:617253
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... OMIM:610797
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Micrognathia, Prima... ORPHA:436182
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Osteolysis, Sinus tachycard... OMIM:614008
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis,... ORPHA:99642
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal ORPHA:1276
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporosis, Decreas... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporosis, Decreas... OMIM:610489
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... OMIM:607616
Preeclampsia
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated circulating cr... ORPHA:275555
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... OMIM:611497
Thanatophoric Dysplasia Type 1
Short femur, Wide anterior fontanel, Split hand, Hypoplastic ilia, Short greater sciatic notch, B... ORPHA:1860
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:241530
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Metaphyseal irregularity, Joint contracture of the 5th finger, Narrow iliac wing, Ps... OMIM:601668
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia, Hypertension OMIM:166990
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Hyperuricemia, Insulin-resis... ORPHA:79083
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Abnormal circulating lipid concentration, Hypertension, Congestive heart failure, Typ... ORPHA:225
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis, Hypertension, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive,... ORPHA:189427
Czech Dysplasia
Short toe, Short metatarsal, Flexion contracture, Narrow iliac wing, Narrow femoral neck, Coxa va... OMIM:609162
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphysea... OMIM:602111
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Acroosteolysis of distal phalanges (feet), Decreased serum leptin, Decrea... ORPHA:280365
Aromatase Deficiency
Osteoporosis, Genu valgum, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis,... ORPHA:91
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Increased bone mineral density, Hepatomega... ORPHA:2204
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Femoral bowing, Hypocalcemia, Subperiosteal bone resorption, Hypocalce... ORPHA:289157
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Small for gestation... ORPHA:79237
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Postnatal growth retardation,... OMIM:246200
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:300554
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Hypersplenism, Leukopenia, Pulmonary arterial hyper... OMIM:278000
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Abnorm... ORPHA:2635
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Hypophosphatemic rickets, Hypertension, Glycosuria OMIM:618913
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Hepatocellular adenoma, Hepa... ORPHA:264580
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Decreased circulating ACTH level, Increased circulating cortisol level, Primary hyp... OMIM:219080
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Abnormal panc... ORPHA:1190
Hypocalcemic Vitamin D-Resistant Rickets
Genu valgum, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Os... ORPHA:93160
H Syndrome
Osteolysis, Microcytic anemia, Pes planus, Camptodactyly, Recurrent fractures, Abnormal cardiovas... ORPHA:168569
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Microcytic anemia, Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hyper... OMIM:619013
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundi... OMIM:603552
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short thumb, Sho... ORPHA:93307
Lcat Deficiency
Hemolytic anemia, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:300009
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Osteoporosis, Hypertension, Increased susceptibility to fractures, Diabetes mellit... ORPHA:189439
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Anemia, Hypoalbuminemia, Hypertension OMIM:603278
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Myocardial infarction, Hypertriglyceridemia, Type II diabe... OMIM:618620
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Hypertension, Splenomegaly, Co... ORPHA:90970
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Methylcobalamin Deficiency Type Cble
Osteoporosis, Neutropenia, Hypertension, Pancytopenia, Clinodactyly, Syndactyly, Hypomethioninemi... ORPHA:2169
Fibrous Dysplasia Of Bone
Abnormality of tibia morphology, Elevated circulating growth hormone concentration, Increased cir... ORPHA:249
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Flattened femoral head, Joint stiffness, Double-layered patella, A... ORPHA:166011
Werner Syndrome
Slender build, Rocker bottom foot, Osteoporosis, Insulin resistance, Hypertension, Telangiectasia... ORPHA:902
Xp21 Deletion Syndrome
Osteoporosis, Joint laxity, Finger clinodactyly, Primary adrenal insufficiency, Elevated circulat... ORPHA:261476
Schimke Immunoosseous Dysplasia
Lymphopenia, Abnormal immunoglobulin level, Elevated circulating thyroid-stimulating hormone conc... OMIM:242900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Hypertension, Abnormal h... ORPHA:371428
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Joint hyperflexibility, Lipodystrophy, Wei... ORPHA:3163
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Small for gestational age, Intrauterine growth retardation, Hyperglycem... OMIM:606176
Atypical Werner Syndrome
Pes planus, Increased bone mineral density, Delayed puberty, Type II diabetes mellitus, Micrognat... ORPHA:79474
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Ck Syndrome
Slender build, Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology,... OMIM:300831
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Decreased circulating antibody le... OMIM:300635
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Proximal lower limb amyotrophy, Ventricular escape rhythm, Elevated ... ORPHA:98855
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive OMIM:602579
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Pulmonary insufficiency, Femur fracture, Reduced bone mineral density, Short ... OMIM:619322
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Wide anterior fontanel, Overlapping toe, Fibular hypoplasia, C... OMIM:201170
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Severe intrauterine growth retardation, Small for gestational age, ... ORPHA:231144
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Abnormal cartilage morpho... ORPHA:93284
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Hypertension, Short distal phalanx of finger, Type I diabetes mellitus, Anterior hy... ORPHA:181
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Talipes equinovarus, Tarsal synostosis, Short phal... OMIM:609441
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Abnormal cortical bone morphology, Arth... ORPHA:1525
Familial Expansile Osteolysis
Bowing of the long bones, Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Increased suscept... ORPHA:79259
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhizomelia, Metaphyseal cuppin... OMIM:608940
Osteogenesis Imperfecta, Type Xiv
Femoral bowing, Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Joint laxity, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Rothmund-Thomson Syndrome Type 1
Short phalanx of finger, Neutropenia, Small for gestational age, Anemia, Telangiectasia, Metaphys... ORPHA:221008
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Proximal lower limb amyotrophy, Ventricular escape rhythm, Elevated ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Proximal lower limb amyotrophy, Ventricular escape rhythm, Elevated ... ORPHA:98853
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypophosphatemic rickets, Congestive heart failure, Hypertension OMIM:614473
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Calvarial hyperostosis, Anterior tibial bowing, Lateral femo... OMIM:112350
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:435660
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Congestive heart failu... ORPHA:2348
Grant Syndrome
Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones, Abnormal cort... ORPHA:2097
Ollier Disease
Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffness, Anemia, Ab... ORPHA:296
Prader-Willi Syndrome
Failure to thrive in infancy, Delayed puberty, Type II diabetes mellitus, Precocious puberty, Obe... OMIM:176270
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hip dysplasia, Hiatus hernia, Rickets, Joint hyperflexibility, Scarring, Femoral he... ORPHA:1901
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs, Glycosuria OMIM:615605
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Pseudohypoparathyro... ORPHA:79443
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Proximal lower limb amyotrophy, Ventricular escape rhythm, Achilles ... ORPHA:98863
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Sensorineura... ORPHA:89936
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Postnatal growth retardation, Failure to thrive in infa... ORPHA:813
Smith-Magenis Syndrome
Hypercholesterolemia, Pes planus, Hypertriglyceridemia, Abnormality of the thyroid gland, Increas... OMIM:182290
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Joint stiffness, Osteoart... ORPHA:1345
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Decreased body weight, Postnatal growth retardation, Hypoglycemia, Small f... ORPHA:231140
Cushing Disease
Osteoporosis, Recurrent fractures, Hypertension, Telangiectasia of the skin, Truncal obesity, Hyp... ORPHA:96253
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Hearing impairment, Type I diabetes mellitus, Failure to thrive, Diabetes ... OMIM:560000
Grange Syndrome
Aortic regurgitation, Hypertension, Syndactyly, Increased susceptibility to fractures, Short palm ORPHA:79094
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Irregular tarsal ossification, Genu valgum, Irregular carpal bones, Hip subluxation... OMIM:226980
Arterial Calcification, Generalized, Of Infancy, 1
Ankylosis, Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure OMIM:208000
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Small for gestational age, Slender finger, Long toe, Pulmonary arterial hypertensio... OMIM:613355
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, R... ORPHA:289176
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Bangstad Syndrome
Goiter, Small for gestational age, Primary gonadal insufficiency, Insulin-resistant diabetes mell... OMIM:210740
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Steatorrhea, Hypocholesterolemia, Hepatomegaly, Failure to thrive OMIM:266510
Glycogen Storage Disease Ib
Osteoporosis, Xanthelasma, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia, Hypertension, H... OMIM:232220
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Type I diabetes mellitus, Limitation of joint mobility, Hypertension ORPHA:1192
Glycogen Storage Disease Ia
Osteoporosis, Xanthelasma, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia, Hypertension, H... OMIM:232200
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hypothyroidism, Hepatic steatosis, Acute panc... ORPHA:412
Takayasu Arteritis
Hypertensive crisis, Weight loss, Hypertension, Myocardial infarction, Arthritis, Hyperhidrosis, ... ORPHA:3287
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:601382
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Hypotension, Hypothyroidism, Pedal... ORPHA:3452
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Te... ORPHA:2909
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Hypoglycemia, Abnormality of peripheral nerve conduction, ... ORPHA:48431
Ganglioneuroma
Gastrointestinal hemorrhage, Neoplasm of the adrenal gland, Abnormal bone structure, Hypertension... ORPHA:251992
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Inguinal hernia, Increased susceptibility to fractures,... OMIM:609220
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:276152
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Broad long bones, Absent ossification of calvaria, Recurrent fractures, ... OMIM:166210
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Small for gestational age, Hy... OMIM:616733
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineura... OMIM:241520
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splenomegaly, Adre... ORPHA:75234
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Glucose intolerance, Elevated hemoglobin A1c, Macrovesicular hepatic steatosis, Flex... OMIM:619127
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyp... ORPHA:435651
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Hyperuricemia, Hypertension, Abnormal cortical bone morphology, Aplasia/hypo... ORPHA:2769
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Leukocytosis, Hypothyroidism, ST segment depression, Hypop... ORPHA:90065
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Upper limb undergrowth, Craniosynostosis, Restrictive cardiomyopathy, Slende... ORPHA:369837
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Micrognathia, Pes planus, Phalangeal dislocation, Sandal gap, Hammertoe, Sho... ORPHA:536532
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Elevated c... ORPHA:439232
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Short 1st metacarpal, Metatarsus adductus, Senso... OMIM:201050
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Joint laxity, Metaphyseal irregularity, Central vertebral hypoplasia, Limb ... OMIM:602557
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Synovitis, Hypertension, Arthritis ORPHA:567544
Prader-Willi Syndrome
Central hypothyroidism, Decreased circulating gonadotropin concentration, Xerostomia, Increased s... ORPHA:739
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Metaphyseal cupping, Hypertension, Short ribs, Hypoplastic ischia, Iliac cre... OMIM:613320
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Increased circulating ... ORPHA:157215
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Normochromic anemia, Hemolytic anemia, Decreased HDL cholesterol concentration OMIM:245900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Elbow flexion contracture, Femoral bowing, Short femur, Enlarged metaphyses, Flexio... OMIM:210710
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, 2-3 toe syndactyly, Failure to thrive in ... OMIM:618156
Cirrhosis, Familial
Micronodular cirrhosis, Hypertension, Jaundice, Increased level of propylene glycol in blood, Pul... OMIM:215600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Craniosynostosis, Tarsal synostosis, Abnormal respons... ORPHA:95699
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Limitation of joint mobility, Type II dia... ORPHA:2833
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased sus... OMIM:146300
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Hepatocellular adenoma, Hepatocellular car... ORPHA:370
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Smith-Magenis Syndrome
Hypercholesterolemia, Hand polydactyly, Toe syndactyly, Hypothyroidism, Pes planus, Failure to th... ORPHA:819
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, P... ORPHA:444490
Fabry Disease
Conjunctival telangiectasia, Hypohidrosis, Abnormal circulating lipid concentration, Delayed pube... ORPHA:324
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Glucose intolerance, Impaired glucose tolerance, Hypertension, Obesity, Increased c... OMIM:219090
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Jaundice, Tachycardia, Splenomegaly OMIM:121300
Caffey Disease
Periosteal thickening of long tubular bones, Increased circulating antibody level, Cortical thick... ORPHA:1310
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hypoglycemia, Glycosuria, Diabetes mellitus, Large for gestational age OMIM:616026
Pachydermoperiostosis
Osteoporosis, Osteolysis, Elevated circulating growth hormone concentration, Gastrointestinal hem... ORPHA:2796
Temple Syndrome
Decreased response to growth hormone stimuation test, Postnatal growth retardation, Small for ges... ORPHA:254516
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Microtriplication 11Q24.1
Genu valgum, Hyperlipidemia, Metatarsus adductus, Small hand, Short foot, Talipes equinovarus, Cl... ORPHA:289522
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Pes planu... OMIM:618395
Rhabdoid Tumor
Internal hemorrhage, Neoplasm of the liver, Hypertension, Weight loss, Thrombocytopenia, Hypercal... ORPHA:69077
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Glycosuria OMIM:613388
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Enlargement of the ankles, Limited wrist extension, Arrhythmia, Limitation of movement at ankles,... ORPHA:437572
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Long foot, Cystic angioma... OMIM:608594
Alkaptonuria
Prostatitis, Thickened Achilles tendon, Hypertension, Cartilage destruction, Myocardial infarctio... ORPHA:56
Arthrogryposis, Distal, Type 2A
Restricted neck movement due to contractures, Camptodactyly, Abnormal auditory evoked potentials,... OMIM:193700
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Rickets, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrh... OMIM:607765
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:1414
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Obesity, Cardiogenic shock... ORPHA:563
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Intrauterine growth retardati... ORPHA:254531
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Aplasia/Hypoplasia of the thymus, Abn... ORPHA:2176
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Pes planus, Failure to thrive in infancy, Delayed p... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Pes planus, Failure to thrive in infancy, Delayed p... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Pes planus, Failure to thrive in infancy, Delayed p... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Pes planus, Failure to thrive in infancy, Delayed p... ORPHA:881
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Lymphopenia, Abnormal circulating lipid concentration, Limb u... OMIM:616541
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Interphalangeal j... ORPHA:96334
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Flexion contracture, Finger swelling, Hepatome... OMIM:617591
Rothmund-Thomson Syndrome Type 2
Short phalanx of finger, Synostosis involving bones of the upper limbs, Neutropenia, Pathologic f... ORPHA:221016
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Omphalocele, Sandal gap, Short distal phalanx of finger... OMIM:311300
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Flexion contracture, Hypertensive crisis, Telangiectasia of the skin, Xerostomia, Con... ORPHA:220393
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Long foot, Cystic angioma... OMIM:269700
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension, Failure to thrive OMIM:605711
Dent Disease
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Enlarged epiphyses, Ricke... ORPHA:1652
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydac... OMIM:617925
Melnick-Needles Syndrome
Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long bones, Abnormal cortical bo... ORPHA:2484
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive OMIM:616069
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Monosomy 13Q34
Postaxial hand polydactyly, Insulin resistance, Hematochezia, Hepatic steatosis, Pes planus, Epis... ORPHA:96168
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Osteopenia, Increased bone mineral density, Abnormal diaphysis morphology... ORPHA:85184
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Hypothyroidism, Hepatic steatosis, Flexion contra... OMIM:212065
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Bowing of the long bones, Recurrent fractures, Umbilical herni... OMIM:617952
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Pathologic... ORPHA:470
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Delayed puberty, Abnormal T-wave, Type... ORPHA:358
Familial Multiple Lipomatosis
Bowing of the long bones, Hyperlipidemia, Insulin resistance ORPHA:199276
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Epistaxis, Hypertension, Hepatomegaly, Pancytopenia, Ao... OMIM:230800
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Polydactyly, Hepatic steatosis, Flexion contracture, Hypoglycemia, Short humerus, He... ORPHA:17
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Intracranial hemorrhage, Weight loss, Limited shoulder movement, Joint st... ORPHA:740
Hepatic Lipase Deficiency
Angina pectoris, Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Hypoglycemia, Ost... ORPHA:95619
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypoalbuminemia, Hypertension ORPHA:54370
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Nephrotic Syndrome, Type 14
Hypothyroidism, Lymphopenia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Hypoalbum... OMIM:617575
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing, Short ribs OMIM:618188
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Postnatal growth retardation, Sev... ORPHA:96182
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Rickets, Tooth abscess, Osteomalacia, Bowing of the legs ORPHA:89937
Spondyloenchondrodysplasia
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypothyroidism, Hypoplastic ilia, Granu... ORPHA:1855
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures, Femoral bowing OMIM:126550
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation, Raynaud phenomenon, Hypertension ORPHA:401945
Growth Factors, Combined Defect Of
Pes planus, Flexion contracture, Lipodystrophy, Insulin-resistant diabetes mellitus, Reduced subc... OMIM:233805
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Increased blood urea nitrogen, Ele... ORPHA:230
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Abnormality of the hepatic vasculature, Punctate vasculitis skin lesi... ORPHA:247691
19P13.12 Microdeletion Syndrome
Arrhythmia, Craniosynostosis, Arthrogryposis multiplex congenita, Aortic regurgitation, Finger sy... ORPHA:254346
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypoalbuminemia, Hypertension, Pedal edema ORPHA:84090
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Recurrent fractures, ... ORPHA:251004
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Hepatic steatosis, Hepatocellul... ORPHA:247585
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Toe clinodactyly, S... ORPHA:457395
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Arrhythmia, Radioulnar synostosis, Split hand, Sh... OMIM:171480
Caudal Regression Sequence
Maternal diabetes, Abnormal iliac wing morphology, Hypertension, Joint stiffness, Abnormal verteb... ORPHA:3027
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Livedoid Vasculopathy
Enlargement of the ankles, Graves disease, Ischemic stroke, Leukocytosis, Polycythemia, Pedal ede... ORPHA:542643
Glycogen Storage Disease Iii
Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kinase concentration,... OMIM:232400
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Abnormality of the lower limb, Osteomalacia OMIM:193100
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Type I diabetes mellitus, Small for gestational age, Failure to thrive, Diab... OMIM:557000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating grow... ORPHA:91347
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Riboflavin Transporter Deficiency
Diabetes insipidus, Hypogonadism, Cachexia, Hypertension ORPHA:97229
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive, Bilateral sensorineural hearing impairment OMIM:602722
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Hypertension, Pulmonic stenosis, Small hand, F... OMIM:618428
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Weig... ORPHA:275761
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Proteasome-Associated Autoinflammatory Syndrome 1
Clubbing of fingers, Impaired glucose tolerance, Elevated circulating thyroid-stimulating hormone... OMIM:256040
Polycythemia Vera
Myelofibrosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chia... ORPHA:729
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Short Syndrome
Glucose intolerance, Joint laxity, Enlarged epiphyses, Macrotia, Lipoatrophy, Lipodystrophy, Insu... OMIM:269880
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Paroxysmal Hemicrania
Diabetes mellitus, Stiff neck, Hypertension ORPHA:157835
Occipital Horn Syndrome
Large iliac wing, Pes planus, Jaundice, Abnormality of fibula morphology, Aplastic clavicle, Hip ... ORPHA:198