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Gene: Irs1 MGI:99454

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Gene Summary

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

Order Alleles

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
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.

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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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
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus 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
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postna... OMIM:615961
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Growth delay, Decreased serum insulin-like ... ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Osteoporosis, Gout, Impaired glucose t... OMIM:610947
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Restricted chest movement OMIM:260530
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
12q14 microdeletion syndrome
Proportionate short stature, Osteopoikilosis DECIPHER:76
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... ORPHA:79084
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Hypog... ORPHA:181393
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Joint stiffness, Thickened cortex of bones, Sclerosis o... ORPHA:564003
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Hype... ORPHA:1879
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... OMIM:619489
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
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
Mandibuloacral Dysplasia
Glucose intolerance, Short clavicles, Hyperinsulinemia, Insulin resistance, Micrognathia, Acroost... ORPHA:2457
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Short stature ORPHA:329249
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Short stature, Decreased circulating free T3, Increas... ORPHA:171706
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... OMIM:262700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Temple Syndrome
Joint hypermobility, Flexion contracture, Small for gestational age, Small hand, Micrognathia, Ma... OMIM:616222
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses, Obesity OMIM:264010
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... OMIM:613370
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Osteoporosis, Joint laxity, Delayed thelarche, Diabetes mellitus, ... OMIM:616033
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... ORPHA:50811
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Broad femoral neck, Short femoral... OMIM:609324
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... ORPHA:2501
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormality of ... ORPHA:1802
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Hypert... ORPHA:280356
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Hepatomegaly, Incr... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Micrognathia, Osteoporosis, Hypertriglyceridemia, Diabetes mel... OMIM:615381
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction OMIM:108725
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature OMIM:608278
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Osteopenia, Hypocholesterolemia, Hypersplenism, Anemia, Thrombocytope... OMIM:610539
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Failure to thrive, Congenital sensorineural hearing impairment,... ORPHA:73272
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Generalized joint laxity,... OMIM:132400
Senior-Loken Syndrome
Hypertension, Cone-shaped epiphysis, Abnormality of bone mineral density, Congenital hepatic fibr... ORPHA:3156
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Generalized joint laxity, Broad femoral neck, Short femoral neck, Genu varu... OMIM:609325
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism OMIM:616113
Cerebrooculofacioskeletal Syndrome 1
Sensorineural hearing impairment, Failure to thrive, Joint contracture of the hand, Flexion contr... OMIM:214150
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin... ORPHA:75508
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Pes cavus, Elevated ... OMIM:615980
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Short femur, Mi... ORPHA:1988
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Osteoporos... ORPHA:77296
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes ... OMIM:610717
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Osteoporosis, Pathologic fracture, Hypoglycemia... OMIM:307030
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Calf muscle ... ORPHA:79086
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Placental Insufficiency
Insulin resistance, Proportionate short stature, Intrauterine growth retardation, Small for gesta... ORPHA:439167
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Juvenile Paget Disease
Recurrent fractures, Osteoporosis, Bowing of the long bones, Hyperuricemia, Hypertension, Coarse ... ORPHA:2801
Osteoporosis
Osteoporosis OMIM:166710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:600081
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Metatarsal osteolysis, Hypertension, Micrognathia, Pes cavus, Osteop... OMIM:166300
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hypertension, Hepa... OMIM:613877
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Short clavicles, Hyperinsulinemia, Flexion contracture, Loss of truncal subc... OMIM:608612
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Split hand, Aplasia/hypoplasia of the humerus, Upper limb phocome... ORPHA:3312
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Decreased HDL cholesterol concentration, ... OMIM:604367
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Short ribs, Flared ... OMIM:616897
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Abnormal morpho... ORPHA:3344
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Slc35A2-Cdg
Precocious puberty, Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin le... ORPHA:356961
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Arrh... OMIM:616516
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... ORPHA:970
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... OMIM:264700
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Down-sloping shoulders, Acroos... OMIM:248370
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Osteopenia, ... ORPHA:369
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Brachydac... ORPHA:3085
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... ORPHA:1227
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... ORPHA:56304
Potocki-Shaffer Syndrome
Micrognathia, Hypothyroidism, Delayed puberty, Hypertension, Anemia, Decreased skull ossification ORPHA:52022
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... ORPHA:94068
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Increased hepatic ... ORPHA:2088
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin resistance, Decreased serum leptin, Insulin-resistant diabetes mellitus, Po... ORPHA:79085
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Osteop... OMIM:615954
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... ORPHA:1306
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype... OMIM:615830
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal OMIM:112410
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Short femur, Fractures of the long bones, Femoral bowing, Osteolysis, In... OMIM:602080
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Insulin resistance, Hepatic st... OMIM:612526
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Jaundice, Hypoproteinemia, Small for gestational age, Hyperammonemia,... ORPHA:26793
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe OMIM:618010
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hypertension... ORPHA:363400
Seckel Syndrome 10
Glucose intolerance, Microretrognathia, Metaphyseal widening, Cone-shaped epiphysis, Elevated hem... OMIM:617253
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... OMIM:277440
Acquired Partial Lipodystrophy
Insulin resistance, Hearing impairment, Lipoatrophy, Lymphocytosis ORPHA:79087
Estrogen Resistance Syndrome
Glucose intolerance, Delayed epiphyseal ossification, Hyperinsulinemia, Osteopenia, Absence of pu... ORPHA:785
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Broad femoral... ORPHA:157965
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... ORPHA:1505
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sl... OMIM:619795
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contr... OMIM:613327
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism, Obesity, Abnormal testis morphology ORPHA:791
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Foot oligodactyly, Omphalocele, Short femur OMIM:601357
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... ORPHA:2298
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:241530
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Clinodactyly of the 5th finger ORPHA:2820
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... OMIM:608154
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Micrognathia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insuffic... ORPHA:436182
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, ... ORPHA:2204
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Calf muscle pseudohypertr... ORPHA:79083
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... OMIM:211350
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... OMIM:307800
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... ORPHA:53697
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Brachydac... ORPHA:1860
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Slender finger, Flared metaphysis, Broad femoral neck, Flattened epiphy... OMIM:601668
Brachydactyly-Arterial Hypertension Syndrome
Hypertension, Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... OMIM:608898
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Preeclampsia
Abnormality of the hepatic vasculature, Small for gestational age, Elevated systolic blood pressu... ORPHA:275555
Aromatase Deficiency
Delayed epiphyseal ossification, Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Hy... ORPHA:91
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Rhizomelia, Thrombocytopenia OMIM:166990
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Hyperlipidemia, Insulin resistance, Aplasia/Hypoplasia of the cla... ORPHA:90154
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Splenomegal... ORPHA:280365
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Werner Syndrome
Slender build, Telangiectasia of the skin, Joint stiffness, Type II diabetes mellitus, Thyroid ca... ORPHA:902
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Small... OMIM:607143
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Hypertension, Hy... ORPHA:225
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... ORPHA:289157
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Osteopenia, Macronodular adrenal hyperplasia, Osteoporosis,... OMIM:219080
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity, Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity, Hypertension OMIM:605572
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free f... OMIM:610768
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... OMIM:300554
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypo... OMIM:619013
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... OMIM:246200
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Genu valgum, Hypertension OMIM:618913
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
H Syndrome
Histiocytosis, Recurrent fractures, Hepatosplenomegaly, Camptodactyly, Hypertriglyceridemia, Pes ... ORPHA:168569
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone morphology,... ORPHA:93160
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Finger clinodactyly, Glycosuria, Osteolytic defects... ORPHA:79474
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... ORPHA:166277
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Hyperlipidemia, Flexion contracture, Insulin resistance, Aplasia/... ORPHA:90153
Atelosteogenesis Type I
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Micr... ORPHA:1190
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... OMIM:300009
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... OMIM:166260
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis... ORPHA:90970
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Arthralgia of the hip, Upper limb undergrowth, Abnormal hand morphology, Genu v... ORPHA:93307
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Marbach-Rustad Progeroid Syndrome
Short clavicles, Reduced bone mineral density, Micrognathia, Pulmonary insufficiency, Right bundl... OMIM:619322
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Syndactyly,... ORPHA:2169
Xp21 Deletion Syndrome
Adrenal insufficiency, Reduced bone mineral density, Calf muscle hypertrophy, Hypogonadotropic hy... ORPHA:261476
Methanol Poisoning
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... ORPHA:31825
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... OMIM:606176
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Hypertension, Transient ischemic attack, Lacunar stroke OMIM:616779
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189439
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615270
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Ck Syndrome
Slender build, Micrognathia, Abnormal digit morphology, Joint hypermobility, Abnormal cortical bo... OMIM:300831
Ollier Disease
Joint stiffness, Precocious puberty, Anemia, Micromelia, Abnormal cartilage morphology, Osteolysi... ORPHA:296
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteolysis involving bones of the lower limbs, Osteopenia, Premature thelarche... ORPHA:371428
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adeno... ORPHA:79259
Short Syndrome
Sensorineural hearing impairment, Inguinal hernia, Joint hyperflexibility, Brachydactyly, Lipodys... ORPHA:3163
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... OMIM:613101
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Deviation of finger, Abnormality of tibia morphology, Arthritis,... ORPHA:1525
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic bridging fibrosis, Adrenal insufficiency, Splenomegaly, Cirrho... OMIM:278000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... ORPHA:98855
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Bowing of the long bones,... ORPHA:2097
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Bowing of the long bones, Thin bony cortex OMIM:174810
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Knee osteoar... ORPHA:93284
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Talipes equinovarus, Abnormal T cell morphology, Lymphopenia, Small fo... OMIM:242900
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypophosphatemic rickets, Hypertension, Congestive heart failure OMIM:614473
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Osteopenia, Aplastic anemia, Hypogonadism, Calcinosis, Abnormality of the ... ORPHA:221008
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal femoral head morphology, Abnormal proportion of ... ORPHA:1830
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Scarring, Coxa valga, Hiatus hernia, Inguinal hernia, Osteopenia, Mic... ORPHA:1901
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hepatomegaly, Steatorrhea, Osteoporosis, Hypocholesterolemia OMIM:266510
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... ORPHA:98853
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin resistance, Decreased serum leptin, Insulin-resistant diabetes mellitus, Po... ORPHA:435660
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Micromelia... OMIM:251230
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Grange Syndrome
Syndactyly, Aortic regurgitation, Increased susceptibility to fractures, Hypertension, Short palm ORPHA:79094
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... ORPHA:79319
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Osteoporosis, Gout, Hypogly... OMIM:232200
X-Linked Hypohidrotic Ectodermal Dysplasia
Short distal phalanx of finger, Anterior hypopituitarism, Hypohidrosis, Type I diabetes mellitus,... ORPHA:181
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Tibial bowing, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing OMIM:615066
Silver-Russell Syndrome
Precocious puberty, Postnatal growth retardation, Short stature, Cachexia, Insulin resistance, Re... ORPHA:813
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resist... ORPHA:2348
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... ORPHA:79443
Weismann-Netter Syndrome
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... OMIM:112350
Overlap Myositis
Distal lower limb muscle weakness, Subluxation of the small joints of the hand, Raynaud phenomeno... ORPHA:206572
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... ORPHA:98863
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs... OMIM:201170
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Short stature, Small for gestational age, Hypoglycemia, Neonatal hypoglyce... ORPHA:231140
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis, Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardi... ORPHA:1345
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... ORPHA:89936
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Recurrent hypoglycemia, Cirrhosis, Elevated cir... ORPHA:79240
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Pseudo-fractures, In... ORPHA:289176
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Brachydactyly, Hypertriglyceridemia, Pes planus, Hypercholester... OMIM:182290
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Talipes equinovarus, Slender finger, Small for gestational age, Long fingers, Hypertension, Pulmo... OMIM:613355
Dysbetalipoproteinemia
Angina pectoris, Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol... ORPHA:412
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Anemia, Type I diabetes mellitus, Limitation of joint mobility ORPHA:1192
Bangstad Syndrome
Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insuffici... OMIM:210740
Ganglioneuroma
Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Abnormal bone structure, Gastro... ORPHA:251992
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... ORPHA:90041
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Fanconi Renotubular Syndrome 3
Bowing of the legs, Glycosuria, Rickets OMIM:615605
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Ivory epiphyse... OMIM:226980
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Glycogen Storage Disease Ib
Hyperlipidemia, Neutropenia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepat... OMIM:232220
Takayasu Arteritis
Hypertrophic cardiomyopathy, Anemia, Vasculitis, Cerebral ischemia, Arthritis, Myocardial infarct... ORPHA:3287
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Whipple Disease
Hepatomegaly, Splenomegaly, Anemia, Cachexia, Myocarditis, Hypotension, Arthritis, Myocardial inf... ORPHA:3452
Rothmund-Thomson Syndrome
Telangiectasia of the skin, Small for gestational age, Reduced bone mineral density, Broad ulna, ... ORPHA:2909
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Osteoporosis, Hypoglycemia,... ORPHA:48431
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... OMIM:260370
Gorham-Stout Disease
Abnormality of femur morphology, Abnormality of finger, Abnormal bone ossification, Osteomyelitis... ORPHA:73
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Glucose intolerance, Joint stiffness, Hepatomegaly, Tricuspid regurgi... OMIM:619127
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Prader-Willi Syndrome
Hyperinsulinemia, Osteopenia, Genu valgum, Failure to thrive in infancy, Abdominal obesity, Adren... OMIM:176270
Caffey Disease
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Periosteal thic... ORPHA:1310
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Elevated circulating follicle stimulating horm... OMIM:609441
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Type I diabetes mellitus, Hearing impairment, Rickets OMIM:560000
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... ORPHA:2741
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Talipes equinovarus, Abnormal auditory evoked potentia... OMIM:601382
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Increased bone mineral density, Crani... OMIM:241520
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Elevated circulating creatinine concentration, Flexion contracture, Small for gesta... OMIM:616733
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... OMIM:619802
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hypertriglyceridemia, Hypercholeste... ORPHA:75234
Smith-Magenis Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Precocious puberty, Micrognathia, Brachydactyly,... ORPHA:819
Prader-Willi Syndrome
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Hypogonadism, Abdominal obe... ORPHA:739
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Decreased circulating IgA level, Precocious puberty, Craniosynostosis, Restri... ORPHA:369837
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cirrhosis, Biliary trac... ORPHA:1414
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Diabetes mellitus... OMIM:540000
Pediatric-Onset Graves Disease
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Graves disease, Hepatome... ORPHA:525731
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Abnormal left ventricular function, Limitation of movement at ank... ORPHA:437572
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration, Synovitis, Arthritis ORPHA:567544
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Knee dislocation, Equinus calcaneus, Joint hypermobility, Arachnodactyly, Mic... ORPHA:536532
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Aplasia/hypoplasia of the... ORPHA:2769
Werner Syndrome
Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis, Hypertriglyceridemia, Diabet... OMIM:277700
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Intrauterine growth retardation, ... ORPHA:769
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Thin bony cortex, Broad thumb, Rhizomelia, Pes planus, Short 4th metacarpal, Shor... OMIM:619638
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... ORPHA:439232
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Inguinal hernia, Osteopenia, Femoral bowing, Elbow flex... OMIM:609220
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Pachydermoperiostosis
Osteomyelitis, Elevated circulating growth hormone concentration, Hepatomegaly, Splenomegaly, Sma... ORPHA:2796
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Leukocytosis, Cerebral ischemia, Syncope, Prolonged Q... ORPHA:90065
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorr... OMIM:607765
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Short 1st meta... OMIM:201050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... OMIM:219090
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Calf muscle hypertrophy, Decreased serum leptin, Hype... ORPHA:435651
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Limitation of joint mobility, Abnormal circulating lipid... ORPHA:2833
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Slender long bone, Abnormal cort... ORPHA:1486
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... OMIM:114000
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Bowing of the legs, Hypophosphatemic rickets, Re... ORPHA:157215
Squalene Synthase Deficiency
2-3 toe syndactyly, Micrognathia, Slender long bone, Increased circulating farnesol concentration... OMIM:618156
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Micromelia, 11 pairs of ribs, Long foot, Absent knee epiphyses, Flexion contractu... OMIM:210710
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cystic angiomatosis of bone, Cirrhosis, Decreased s... OMIM:608594
Microtriplication 11Q24.1
Clinodactyly of the 5th finger, Talipes equinovarus, Hyperlipidemia, Small hand, Genu valgum, Sho... ORPHA:289522
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Decreased circulating androgen concentration, Craniosynostosis, Decreased circul... ORPHA:95699
Fabry Disease
Angina pectoris, Abnormality of femur morphology, Telangiectasia of the skin, Transient ischemic ... ORPHA:324
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Joint stiffness, Microretrognathia, Flexion contracture, Micrognathia, Mitral ... OMIM:614008
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Tachycardia, Hypertension, Jaundice OMIM:121300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Short ribs, Small for gestational age, Iliac crest serration, Micromelia, Hy... OMIM:613320
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Limb joint contracture, Abnorma... ORPHA:93314
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... ORPHA:370
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Abnormal T-wave, Decreased serum testosterone concentration, St... ORPHA:3464
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Hepatosplenomegaly, Pulmonary embolism,... ORPHA:444490
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Intrauterine growth retardation, Precocious puberty, Maturity-onset diabetes of the young, Postna... ORPHA:254531
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Left bundle b... ORPHA:563
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Abnormal foot morpholo... OMIM:146300
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Alkaptonuria
Joint stiffness, Prostatitis, Reduced bone mineral density, Osteoarthritis, Cartilage destruction... ORPHA:56
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Anemia, Hepatosplenomegaly, Osteoporosis, Pericarditis, Hemolyti... OMIM:619487
Fanconi Renotubular Syndrome 2
Osteopenia, Glycosuria, Rickets OMIM:613388
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cystic angiomatosis of b... OMIM:269700
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:99413
Mosaic Monosomy X
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:99228
Monosomy X
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:99226
Turner Syndrome
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:881
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Micrognathia, Osteopenia, Broad femoral n... ORPHA:85184
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Postaxial polydactyly, Insulin resistance, Bra... OMIM:209900
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Increased circulating antibody level, Lymphopenia, Hepatomegaly, Flexion contr... OMIM:617591
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Narrow foramen obturatorium, Flexion contracture, Xerostomia, Arthrit... ORPHA:220393
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Rocker bottom foot, Talipes equinovarus, Ulnar deviation of the ha... OMIM:193700
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Osteopenia, Aplastic anemia, Calcinosis, Abnormality of the radial head, L... ORPHA:221016
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Failure to thrive, Osteopenia, Camptodactyly of finger, Abn... ORPHA:2176
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... OMIM:618395
Proteus Syndrome
Hypertrophy of skin of soles, Calvarial hyperostosis, Splenomegaly, Thin bony cortex, Mandibular ... OMIM:176920
Alg12-Cdg
B lymphocytopenia, Sandal gap, Complete or near-complete absence of specific antibody response to... ORPHA:79324
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Abnormal circulating lipid concentration, Pes cavus, Truncal obesity, Limb undergrow... OMIM:616541
Dent Disease
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Sparse bone trabec... ORPHA:1652
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Internal hemorrhage, Hypercalcemia, Hypertension, Anemia, Thr... ORPHA:69077
Monosomy 13Q34
Infantile hypercalcemia, Pulmonic stenosis, Micrognathia, Hematochezia, Postaxial hand polydactyl... ORPHA:96168
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... ORPHA:96334
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Pulmonary arterial hypertension, Hypertension OMIM:605711
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Ost... OMIM:612301
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Broad distal phalanx of the thumb, A... OMIM:311300
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158061
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Hepatic Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... ORPHA:470
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Small for gestational age, Pulmonary insufficiency, Limb unde... OMIM:166210
Gitelman Syndrome
Graves disease, Gout, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval... ORPHA:358
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pathol... OMIM:230800
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... OMIM:171480
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Limitation of movement at ankles, Pubertal developmental failure in females, Myo... ORPHA:740
19P13.12 Microdeletion Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Deep plantar creases, Hyperlipidemia, Craniosyn... ORPHA:254346
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Cirrhosis, Hepatic fibrosis OMIM:602579
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension, Hypoalbuminemia ORPHA:54370
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Sensorineural hearing impairment, Recurrent fractures, Glycosuria, Rickets, Optic atrophy, Optic ... OMIM:268315
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... OMIM:617925
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Hypertension OMIM:616069
Lead Poisoning
Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... ORPHA:330015
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Micrognathia, Thin bony cortex, Joint laxity, Bowing of the ... OMIM:617952
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... ORPHA:251004
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hepatomegaly, Flexion contracture, Short femur, Short humerus, Polydactyly, Hy... ORPHA:17
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Severe intrauterine growth retardation, Failure to thrive, Precocious puberty, Decreased response... ORPHA:96182
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbum... OMIM:617575
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Tachycardia, Tapered finger, Hypertension, Contractures of the interphalange... OMIM:613870
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Bowing of the long bones ORPHA:199276
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ... OMIM:267700
Spondyloenchondrodysplasia
Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Decreased response to ... ORPHA:1855
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Osteopenia, Hypo... ORPHA:95619
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets ORPHA:89937
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovaru... ORPHA:3027
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Flexion contracture, Micrognathia, Plantar hyperkeratosis, L... OMIM:233805
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Hypoglycemia, Diabetes mellitus, Rickets OMIM:616026
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Radial bowing, Short metacarpal, Dent... OMIM:610915
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Osteoporosis, Femoral bowing OMIM:126550
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Abnormal hand morphology, Abnormality of fibula morp... ORPHA:321
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, H... OMIM:232400
Citrullinemia Type Ii