Gene Summary

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

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
increased freezing behavior Irs1em1(IMPC)H HET   Early adult 4.25×10-05
preweaning lethality, complete penetrance Irs1em1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

MicroCT E18.5

Embryo reconstruction

4 Images

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Acid-Labile Subunit Deficiency
Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postna... OMIM:615961
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesit... ORPHA:140941
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
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Restricted chest movement OMIM:260530
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Gout, Type II diabetes mellitus, Hy... OMIM:610947
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broa... OMIM:620639
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Increased ... OMIM:615703
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis... ORPHA:1879
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... ORPHA:564003
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Hyperinsulinemia, Obesity ORPHA:329249
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Arachnodactyly, Long toe, Long ... OMIM:619489
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Severe fail... OMIM:601410
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo... ORPHA:79106
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... ORPHA:2457
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Delayed puberty, Hyperinsulinemic ... OMIM:616033
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me... OMIM:613370
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hypertrop... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Dense metaphyseal bands, Generalized lipodystrophy, Slender build,... ORPHA:50811
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal epiphysis morphology, Reduced bone mineral density, Bowing of the long bones, Metaphysea... ORPHA:2501
Osteosclerotic Metaphyseal Dysplasia
Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase... OMIM:615198
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Calf muscle hypertrophy, Hypertriglyceride... ORPHA:280356
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity OMIM:617885
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, L... ORPHA:528
Placental Insufficiency
Insulin resistance, Intrauterine growth retardation, Small for gestational age, Proportionate sho... ORPHA:439167
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... ORPHA:440354
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Micrognathia, Hepatic steatosis, Telangiectasia of the ski... OMIM:615381
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Pes cavus, Hyperlipidemia, Hepatic ... OMIM:615980
Senior-Loken Syndrome
Cone-shaped epiphysis, Hypertension, Abnormality of bone mineral density, Congenital hepatic fibr... ORPHA:3156
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypertension, Hypothyroidism, Hyperchol... ORPHA:77296
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Deep longitudinal plantar crease, Failure to t... OMIM:214150
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Bowing of the long bon... ORPHA:2801
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Precocious puberty, Short tibi... ORPHA:356961
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Decreased body weight, Brachydactyly, Short femora... OMIM:618392
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Prelingual sensorineural hearing impairment, Clinodactyly, Hypoglycemia, Fail... ORPHA:73272
Acquired Generalized Lipodystrophy
Insulin resistance, Acute pancreatitis, Insulin-resistant diabetes mellitus, Abnormal circulating... ORPHA:79086
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat... ORPHA:71212
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy... ORPHA:75508
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Temple Syndrome
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Obesity, Micr... OMIM:616222
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypertrophi... ORPHA:276556
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased fibular diameter, Hypertrophic cardiomyopathy, Micrognat... OMIM:616897
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Intrauterine growth retar... ORPHA:99886
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Osteoporosis
Osteoporosis OMIM:166710
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ankle swelling, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Ulna... OMIM:166300
Thalidomide Embryopathy
Insulin resistance, Hearing impairment, Preaxial hand polydactyly, Radial club hand, Anotia, Apla... ORPHA:3312
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... OMIM:613877
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F... OMIM:600081
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hypertrophic card... ORPHA:369
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micrognathia, Glucose intol... OMIM:608612
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin... OMIM:241530
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Large for gesta... ORPHA:263455
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ... ORPHA:56304
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Short toe, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Broad foot, Brachydacty... ORPHA:3085
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Cone-shap... OMIM:617253
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertension, Hypertriglyceridemia, Hepatomeg... OMIM:608600
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Hearing impairment, Abnormal foot morpholo... ORPHA:94068
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ... OMIM:127300
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Potocki-Shaffer Syndrome
Micrognathia, Decreased skull ossification, Hypothyroidism, Delayed puberty, Anemia, Hypertension ORPHA:52022
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva... OMIM:264700
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hypo... ORPHA:26793
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp... OMIM:248370
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Failure to thrive, Abnormal hepatic ... ORPHA:2088
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Type E brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal OMIM:112410
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva... OMIM:277440
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... ORPHA:1972
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Abnormal blood phosphate concentration, Decreased circulating osteocalcin leve... OMIM:619795
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Decreased circulating IgA le... OMIM:613327
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes m... OMIM:612526
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ... OMIM:615830
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology, Flat capital f... ORPHA:157965
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis, Lipoatrophy, Hearing impairment ORPHA:79087
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Hepatomegaly... ORPHA:289157
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Spastic Paraplegia-Nephritis-Deafness Syndrome
Clinodactyly of the 5th finger, Hypertension ORPHA:2820
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Osteopenia, Failure to thrive, Generalized lipodystrophy... OMIM:608154
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped humer... OMIM:211350
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Micrognathia, Hepatic steatosis, Hypertriglyceridemia, Prima... ORPHA:436182
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Short Syndrome
Insulin resistance, Low-set ears, Radial deviation of finger, Slender long bone, Clinodactyly, In... OMIM:269880
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... OMIM:610475
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Omphalocele, Short femur OMIM:601357
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Limited elbow extensi... OMIM:100800
Pyle Disease
Absent paranasal sinuses, Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal dys... OMIM:265900
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal... ORPHA:1860
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hypertension, Thrombocytopenia OMIM:166990
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Elevated circulati... OMIM:307800
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... ORPHA:2632
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Rhizomelia, Short tibia, Sandal gap, Hypoglycemia, Failure to th... OMIM:607143
Werner Syndrome
Insulin resistance, Small hand, Congestive heart failure, Hypogonadism, Slender build, Joint stif... ORPHA:902
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Hypertension, Brachydactyly ORPHA:1276
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,... OMIM:608898
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Obesity, Genu valgum, Hyperlipid... ORPHA:91
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Abnormal atrioventricular conduction, Decreased adiponectin level, Decreased ... ORPHA:280365
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Pancytopenia, Abnormality of ... ORPHA:2169
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Micromelia, Genu valgum, Fibular bowing, Ingui... OMIM:613848
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Insulin resistance, Micrognathia, ... ORPHA:90154
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Hypoketot... OMIM:610768
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... OMIM:610489
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Joint... OMIM:619013
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... ORPHA:231144
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Pes plan... OMIM:203800
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Cardiomyopathy, Cholestasis, ... ORPHA:264580
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Atelosteogenesis Type I
Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies, M... ORPHA:1190
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepat... OMIM:614480
Fanconi Renotubular Syndrome 5
Glycosuria, Genu valgum, Hypophosphatemic rickets, Hypophosphatemia, Hypertension OMIM:618913
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Small for ge... ORPHA:79237
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Hypertension,... OMIM:615238
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Micrognathia, Right bundle branch block, Short clavicles, Femur fracture, Pul... OMIM:619322
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Glycosuria, Osteomalacia, Fibular bo... OMIM:300009
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Short distal phalanx of finger, Limitation of joint mobility, Hyperlipidemia,... ORPHA:90153
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Abnormal enchondral ossific... ORPHA:2635
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Prader-Willi Syndrome
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Short foot, S... OMIM:176270
H Syndrome
Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Recurrent fractures, Facial telangiectasia, ... ORPHA:168569
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Postnatal growth... OMIM:246200
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Diabetes mellitus, Smal... OMIM:606176
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip... ORPHA:93160
Hyperparathyroidism, Transient Neonatal
Low-set ears, Osteopenia, Fractured rib, Hyperparathyroidism, Metaphyseal spurs, Umbilical hernia... OMIM:618188
Atypical Werner Syndrome
Aortic valve stenosis, Limitation of joint mobility, Insulin-resistant diabetes mellitus, Scleros... ORPHA:79474
Methanol Poisoning
Type I diabetes mellitus, Type II diabetes mellitus, Hyperlipidemia, Permanent atrial fibrillatio... ORPHA:31825
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Atrioventricular block, Carpal osteolysis, Abnormal hand mo... ORPHA:371428
Xp21 Deletion Syndrome
Finger clinodactyly, Adrenal insufficiency, Primary adrenal insufficiency, Joint hypermobility, E... ORPHA:261476
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Ck Syndrome
Slender build, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... OMIM:300831
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ollier Disease
Precocious puberty, Micromelia, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple ... ORPHA:296
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hyporeflexia of lower limbs, Elbow flexion contra... ORPHA:98855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Osteopenia, Increased suscepti... ORPHA:79259
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Schimke Immunoosseous Dysplasia
Osteopenia, Shallow acetabular fossae, Elevated circulating thyroid-stimulating hormone concentra... OMIM:242900
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Overlap Myositis
Finger swelling, Rheumatoid arthritis, Abnormal circulating lipid concentration, Leukopenia, Subl... ORPHA:206572
Fibrous Dysplasia Of Bone
Hearing impairment, Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology... ORPHA:249
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... OMIM:608728
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ... ORPHA:2097
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Avascular necrosis of ... ORPHA:1901
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615270
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Neutropenia, Abnormal proportion of naive CD4 T cells, Im... ORPHA:1830
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Sensorineural hearing imp... ORPHA:3163
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Grange Syndrome
Aortic regurgitation, Increased susceptibility to fractures, Hypertension, Short palm, Syndactyly ORPHA:79094
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyo... ORPHA:98853
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Delayed puberty, Pancreatitis, Fa... OMIM:232200
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Patellar aplasia, Telangiectasia, Neutropenia, Calcinosis, Leukemia, Short metac... ORPHA:221008
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Hypop... OMIM:605911
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Limitation of joint mobility, Abnormal circulating lipid... ORPHA:2833
Mpi-Cdg
Hepatic fibrosis, Failure to thrive, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypogl... ORPHA:79319
Dysbetalipoproteinemia
Acute pancreatitis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholester... ORPHA:412
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Elbow flexion contracture, Hypertrophic cardiomyopathy, Joint stiffness, ... ORPHA:98863
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossif... ORPHA:79443
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic ... ORPHA:2348
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... OMIM:266510
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia... ORPHA:90041
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Exocrine ... OMIM:260370
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret... OMIM:620734
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Lower limb asymmet... ORPHA:289176
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Type I diabetes mellitus, Limitation of joint mobility, Hypertension ORPHA:1192
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Hypertension, Small for gesta... OMIM:616733
X-Linked Hypohidrotic Ectodermal Dysplasia
Short distal phalanx of finger, Type I diabetes mellitus, Hypohidrosis, Hypertension, Anterior hy... ORPHA:181
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Elevated circulating creatinine concentration, Hypertension, Arthritis ORPHA:567544
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:79240
Preeclampsia
Elevated systolic blood pressure, Type I diabetes mellitus, Abnormality of the hepatic vasculatur... ORPHA:275555
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hy... ORPHA:251992
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Joint stiffness, Arrhy... ORPHA:1345
Orofaciodigital Syndrome Vi
Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f... OMIM:277170
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Hyponatremia, Hepatom... ORPHA:3452
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c... OMIM:609441
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing o... ORPHA:89936
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Abnormal auditory evoked potentials, Decreased motor nerve conduction veloci... OMIM:601382
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Crumpled ear, Symphalangism of the thumb, Cupped ear, Short toe, Clinodactyly, Broad hallux, Hear... OMIM:620494
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Gout, Splenomegaly, Hyperuricemia, Hyperlipidemia, Delayed puberty, Pa... OMIM:232220
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... ORPHA:1310
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr... ORPHA:2769
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Rickets, Hearing impairment, Failure to thrive, Osteoporosis OMIM:560000
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasia of the odonto... OMIM:226980
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Hypertriglyceridemia, Osteomyelitis OMIM:618010
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Pes planus, Hypercholesterolemia, Brachy... OMIM:182290
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Parap... ORPHA:439232
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Aplasia/Hypoplasia of m... ORPHA:2502
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Smith-Magenis Syndrome
Precocious puberty, Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Micrognathia, ... ORPHA:819
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Failure to thrive, Hypocholesterolemia, ... OMIM:607765
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Sinus tachycardia, Failure to thrive, Pathologic fracture, Decreased serum lep... OMIM:614008
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Micrognathia, Abnormality of peripheral nerve conduction, Hypogonadotropic hypogona... ORPHA:48431
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... OMIM:210740
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestationa... OMIM:615935
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia, Osteoporosis, Reduced bone mineral d... OMIM:277700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ... OMIM:241520
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Hypokalemia, A... OMIM:219090
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... OMIM:620603
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Decreased fibular diameter, Tricuspid regurgitation, Dysplasia of the fem... OMIM:619127
Fanconi Renotubular Syndrome 3
Rickets, Glycosuria, Bowing of the legs OMIM:615605
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Hypertension, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left... OMIM:540000
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Leukocytosi... ORPHA:90065
Fabry Disease
Mitral regurgitation, Arrhythmia, Hypertrophic cardiomyopathy, Bundle branch block, Arthritis, An... ORPHA:324
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Osteopenia, Restrictive cardiomyopathy, Slender long bone, Upper limb undergr... ORPHA:369837
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol... ORPHA:247598
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial fo... ORPHA:1106
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:75234
Prader-Willi Syndrome
Premature adrenarche, Small hand, Xerostomia, Central adrenal insufficiency, Short foot, Precocio... ORPHA:739
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hyperbilirubinemia, Hip contr... OMIM:210710
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration OMIM:245900
Pediatric-Onset Graves Disease
Graves disease, Sinus tachycardia, Failure to thrive, Congestive heart failure, Goiter, Puberty a... ORPHA:525731
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Sandal gap, Knee dislocation, Abnormal foot morphology, Micrognathia, Equinus calcane... ORPHA:536532
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... OMIM:619638
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Microtriplication 11Q24.1
Small hand, Limitation of joint mobility, Obesity, Genu valgum, Hyperlipidemia, Talipes equinovar... ORPHA:289522
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Inguinal hernia, Knee flexion contracture,... OMIM:609220
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... ORPHA:1486
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:151660
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Squalene Synthase Deficiency
Slender long bone, Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, ... OMIM:618156
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Limitation of joint mobilit... ORPHA:95699
Pachydermoperiostosis
Small hand, Clubbing of toes, Palmoplantar keratoderma, Abnormal epiphysis morphology, Limitation... ORPHA:2796
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Cardiomyopathy, Long foot, Decreased serum leptin, Hyperinsulinemia, Splenome... OMIM:608594
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Osteomalacia, Pathologic fracture, Hypophosphate... ORPHA:157215
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I... ORPHA:470
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hepatomegaly, Tachycardia, Hypertension OMIM:121300
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Intrauter... ORPHA:254531
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increase... OMIM:146300
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Tangier Disease
Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Xerostomia, Congestive heart failure, Pulmonary arterial hypertension, Narro... ORPHA:220393
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Dilated cardiomyopathy, Clinodactyly, Abnormal circulating lipid concentratio... OMIM:616541
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Failure to thrive, Increased circulating chylomicron conc... ORPHA:444490
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decr... ORPHA:3464
Alg12-Cdg
Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Abnormal circulating IgG level, Talipe... ORPHA:79324
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Pe... ORPHA:563
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Postaxial foot polydactyly, Radial deviation of finger, Hyp... OMIM:209900
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Por... OMIM:619487
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Hip contracture, Hernia, Talipes equinovarus, ... OMIM:193700
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Liver abscess, Obesity, Cholecystiti... ORPHA:69663
Lipodystrophy, Congenital Generalized, Type 2
Long foot, Hypertrophic cardiomyopathy, Hyperinsulinemia, Decreased serum leptin, Type II diabete... OMIM:269700
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Aortic regurgitation, Precocious puberty, Sandal gap, Finger syndactyly, Deep p... ORPHA:254346
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hepatic steatosis, Short humerus, P... ORPHA:17
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Dent Disease
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Bulging epiphyses, Glycosuria, ... ORPHA:1652
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Failure to thrive, Osteomalacia, Camptodactyly of finger, Aplasia/Hypopla... ORPHA:2176
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges... ORPHA:2484
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Increased circulating IgE level, Decreased... ORPHA:330015
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... OMIM:616300
Monosomy 13Q34
Insulin resistance, Hematochezia, Epistaxis, Postaxial foot polydactyly, Obesity, Micrognathia, H... ORPHA:96168
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Neutrop... ORPHA:221016
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Elevated circulating luteinizing hormone level, Reduced circu... OMIM:300845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Hypertriglyceridemia, Increased ci... OMIM:617591
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Hearing impairment, Wide distal femoral metaphysis, Umbilical hernia, ... OMIM:614856
Rhabdoid Tumor
Hypertension, Neoplasm of the liver, Weight loss, Internal hemorrhage, Thrombocytopenia, Anemia, ... ORPHA:69077
Glycogen Storage Disease Iii
Hepatic fibrosis, Cardiomyopathy, Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kin... OMIM:232400
Proteus Syndrome
Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Splenomegaly, Thin bo... OMIM:176920
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Hypertension, Episodic hemolytic anemia, Increased blood urea nitrogen, Delayed puberty,... ORPHA:251004
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Calf muscle ... ORPHA:435651
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pathologic fracture, ... OMIM:230800
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Hypertension, Myocardial infarction ORPHA:54370
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Increased serum py... ORPHA:1349
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Abnorm... ORPHA:247691
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Osteopetrosis, Increased b... OMIM:620366
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Small for gestational age, Broad long bones, Congestive h... OMIM:166210
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen... OMIM:201910
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitari... ORPHA:95619
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Glycosuria, Hearing impairment, Sensorineural hearing impairment, Bilater... OMIM:268315
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Knee dislocation, Obesity, Joint hypermobility, Carpal bone hypoplasia, Pes p... OMIM:618395
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... OMIM:619313
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Absent gallbladder, Fibular hypoplasia, Decrease... OMIM:617925
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ... ORPHA:358
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension, Tapered ... OMIM:613870
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Decreased HDL cholesterol concentra... ORPHA:247585
Livedoid Vasculopathy
Graves disease, Polycythemia, Abnormal circulating lipid concentration, Abnormal foot morphology,... ORPHA:542643
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Elevated circulating parathyroid hormone level, Osteomalacia, Re... OMIM:613388
Abetalipoproteinemia
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Talipes equinovarus, Cirrhosis, Hepatomega... ORPHA:14
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Limitation of joint mobility, Limited hip movement, Micrognathia, Mitral r... ORPHA:740
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... OMIM:134780
Spondyloenchondrodysplasia
Hypoplastic ilia, Short distal phalanx of finger, Vasculitis, Granuloma, Hepatitis, Decreased res... ORPHA:1855
Alopecia Universalis
Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension, Abnormal circulating li... ORPHA:701
Familial Multiple Lipomatosis
Bowing of the long bones, Hyperlipidemia, Insulin resistance ORPHA:199276
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Decreased respon... ORPHA:96182
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Decreased circulating IgG level, Failure to thrive... OMIM:212065
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus OMIM:616026
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hyperbilirubinemia, Abnormal cortical bone morphology, Decreased body weight, Ele... OMIM:614886
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Proprotein Convertase 1/3 Deficiency