Gene Summary

Name:
thyroid hormone receptor alpha
Synonyms:
T3R[a],  c-erbAalpha,  Rvr,  Thra1,  Thra2,  Erba,  T3Ralpha,  TR alpha 2,  TR alpha 1,  6430529J03Rik,  Nr1a1

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
abnormal retinal inner nuclear layer morphology Thratm1b(EUCOMM)Wtsi HET   Early adult 2.19×10-06
short tibia Thratm1b(EUCOMM)Wtsi HET Early adult 4.73×10-05
decreased startle reflex Thratm1b(EUCOMM)Wtsi HET Late adult 1.73×10-11
preweaning lethality, incomplete penetrance Thratm1b(EUCOMM)Wtsi HOM   Early adult 0.00
hyperactivity Thratm1b(EUCOMM)Wtsi HET   Early adult 0.00
increased circulating creatinine level Thratm1b(EUCOMM)Wtsi HET   Late adult 3.99×10-06
increased bone mineral content Thratm1b(EUCOMM)Wtsi HET Early adult 2.50×10-06
increased circulating alkaline phosphatase level Thratm1b(EUCOMM)Wtsi HET   Early adult 9.20×10-06
increased vertical activity Thratm1b(EUCOMM)Wtsi HET   Early adult 1.30×10-05
decreased exploration in new environment Thratm1b(EUCOMM)Wtsi HET   Late adult 3.97×10-07
increased bone mineral density Thratm1b(EUCOMM)Wtsi HET Early adult 4.40×10-06
decreased body length Thratm1b(EUCOMM)Wtsi HET Early adult 1.59×10-07
increased blood urea nitrogen level Thratm1b(EUCOMM)Wtsi HET   Late adult 2.71×10-07
abnormal bone structure Thratm1b(EUCOMM)Wtsi HET   Early adult 2.97×10-05
decreased grip strength Thratm1b(EUCOMM)Wtsi HET   Early adult 5.01×10-06
abnormal contextual conditioning behavior Thratm1b(EUCOMM)Wtsi HET   Late adult 3.41×10-06
increased startle reflex Thratm1b(EUCOMM)Wtsi HET Early adult 4.89×10-09
decreased total body fat amount Thratm1b(EUCOMM)Wtsi HET   Late adult 5.75×10-05
abnormal heart left ventricle morphology Thratm1b(EUCOMM)Wtsi HET   Late adult 4.76×10-05
hyperactivity Thratm1b(EUCOMM)Wtsi HET   Late adult 9.55×10-12
increased hematocrit Thratm1b(EUCOMM)Wtsi HET   Late adult 5.39×10-05
limb grasping Thratm1b(EUCOMM)Wtsi HET Early adult 3.30×10-06
improved glucose tolerance Thratm1b(EUCOMM)Wtsi HET Early adult 7.93×10-06
decreased total retina thickness Thratm1b(EUCOMM)Wtsi HET Early adult 5.56×10-17
increased vertical activity Thratm1b(EUCOMM)Wtsi HET Late adult 3.06×10-05
abnormal contextual conditioning behavior Thratm1b(EUCOMM)Wtsi HET   Early adult 2.01×10-05
increased circulating alkaline phosphatase level Thratm1b(EUCOMM)Wtsi HET Late adult 8.79×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote Ambiguous
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Thra 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 Thra by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Growth delay, Increased body mass index, Increased T3/T4 ... OMIM:614450

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Peda... ORPHA:564003
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Congenital sensorineural hearing impairment, Torsade de pointes, ... OMIM:220400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Eiken Syndrome
Limited elbow flexion, Short stature, Cubitus valgus, Epiphyseal dysplasia, Metaphyseal irregular... ORPHA:79106
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Congenital sensorineural hearing impairment, Torsade de pointes, ... OMIM:612347
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short stature, Wormian bones, Abnormal cortical bone morphology, Patholog... ORPHA:166277
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Hearing impairment OMIM:614896
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Abnormality of the hand, Thin bony cortex, Hype... ORPHA:75508
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Generalized bone de... OMIM:600785
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Large fontanelles, Brachycephaly, Short stature, ... ORPHA:2097
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... OMIM:603373
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Growth delay, Rickets, Enlargement... OMIM:600081
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Delayed proximal ... ORPHA:90673
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, ... ORPHA:71529
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Increas... ORPHA:438274
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Abnormality of the knee, Large fontanelles, Abnormal cortical bo... ORPHA:1525
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Dysplastic Cortical Hyperostosis
Short stature, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morp... ORPHA:2204
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... ORPHA:2635
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... OMIM:619598
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 level, Decreased circulating free T3, Growth delay, Short stature, Eleva... ORPHA:171706
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Severe postnatal growth retardation, Short stature, Pituitary dwarfism, Im... OMIM:262700
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Growth delay, Hypothyr... OMIM:262710
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Growth delay, Short stature, Osteopenia, Diabetes... OMIM:614162
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Dispro... OMIM:271530
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Flat occiput, Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Fi... OMIM:264700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:324575
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... ORPHA:566943
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Short long bone, Avascular nec... ORPHA:93308
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism OMIM:188580
Vitamin D-Dependent Rickets, Type 2A
Flat occiput, Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Fi... OMIM:277440
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormality of the elbow, Short stature, Abnormal cortical bone morphology, Slender... ORPHA:1486
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism OMIM:613239
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Infertility, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insulin-... ORPHA:280356
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abno... ORPHA:91347
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Hypothermia, Increased radioactive iodine uptake, Decreased ci... ORPHA:95716
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Growth delay, Rickets, Enlargement... OMIM:241530
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hypoglycemia, Generalized aminoaciduria, Vomiting, Failure to thrive, ... OMIM:606528
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Abnormal intestine morphology, Villous atrophy OMIM:251850
Mccune-Albright Syndrome
Increased circulating cortisol level, Polyostotic fibrous dysplasia, Pathologic fracture, Pituita... OMIM:174800
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 level OMIM:615999
Growth Hormone Insensitivity Syndrome
Fine hair, Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failu... ORPHA:181393
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Brachydactyly, Short distal phalanx of finger, Join... ORPHA:2787
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Epiphyseal stippling, Shortening of all distal phalanges... OMIM:619135
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Infertility, Type II diabetes mellitus, Insulin resistance, Azoosperm... OMIM:615703
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Sh... ORPHA:93388
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Frontotemporal cerebral atrophy, Dementia, Inappropriate behavior, Falls, Shuffling gait, Bradyki... ORPHA:412066
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Acrodysostosis
Abnormality of the ulna, Cone-shaped epiphysis, Short stature, Brachycephaly, Epiphyseal stipplin... ORPHA:950
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Infertility, Hypothyroidism OMIM:268040
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Mental Retardation Syndrome, Mietens-Weber Type
Severe postnatal growth retardation, Pes planus, Dislocated radial head, Absent proximal radial e... OMIM:249600
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, Thin bony cortex, Overtubu... ORPHA:85184
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Large fontanelles, Talipes, Ulnar deviation of finger,... ORPHA:2249
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplas... ORPHA:1972
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Pathologic ... OMIM:601559
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Delayed proximal femoral epiphyseal ossification, Constipation, Goiter, Thyroid h... ORPHA:90674
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Hypocalcemic Vitamin D-Dependent Rickets
Flat occiput, Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Tibia... ORPHA:289157
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... ORPHA:1310
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Short stature, Delayed epiphyseal ossification, Flared metaphy... OMIM:601561
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin res... ORPHA:276556
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neoplasm ... ORPHA:457059
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Enlargement of the wrist... OMIM:300554
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia ORPHA:329249
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Short stature, Panhypopituitarism, Hypothy... OMIM:300123
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Small for gestational age, Goiter, Tachycardia, Hyperthyroidism OMIM:609152
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Glutaric Aciduria Iii
Failure to thrive, Hypertension, Hyperthyroidism, Goiter OMIM:231690
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Bilateral sensorineural hearing impairment, ... ORPHA:90647
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... ORPHA:93405
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Pycnodysostosis
Micrognathia, Short stature, Abnormality of pelvic girdle bone morphology, Wormian bones, Osteoly... OMIM:265800
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Ck Syndrome
Joint hypermobility, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Thin bony cortex, Rhizomelia, Wormian bones, Pes planus, Femoral bowing, Br... OMIM:619638
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Flynn-Aird Syndrome
Increased bone density with cystic changes, Dementia, Osteoporosis, Rod-cone dystrophy, Ataxia, I... OMIM:136300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly ORPHA:46532
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Maturity-onset dia... ORPHA:99886
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... ORPHA:73
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Craniosynostosis, Forearm undergrowth OMIM:218650
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Short stature, Bowing of the long bones, Abnormal cortical bone mo... ORPHA:2484
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Secondary amenorrhea, Inappropriatel... OMIM:301033
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Genetic Transient Congenital Hypothyroidism
Goiter, Macroglossia, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating th... ORPHA:226316
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Pediatric-Onset Graves Disease
Hypertension, Increased circulating T4 level, Intrauterine growth retardation, Atrial fibrillatio... ORPHA:525731
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Macroglossia, Abnormality of epiphysis morphology, Decreased c... ORPHA:226313
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Prolonged QT interval, Arrhythmia, Hyperhidrosis ORPHA:2151
Osebold-Remondini Syndrome
Tarsal synostosis, Short stature, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the ... OMIM:112910
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Lipodystrophy, Familial Partial, Type 3
Hypertension, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Hi... OMIM:604367
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Small for gestational age, Goiter, Epiphyseal stippling OMIM:274300
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Microvillus inclusions, Microvillar PAS-positive secretory granules, S... OMIM:619445
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormality of epiphysis morpholo... ORPHA:95717
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Genu varum, Short stature, Joint dislocation, Abnormal bone structure, Abnormality of ... ORPHA:93160
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Short stature, Rhizomelia, Epiphyseal dyspla... ORPHA:166016
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... ORPHA:976
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Short stature, Delayed closure of the anterior fontanelle, Increased susceptibility to fractures,... OMIM:604922
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Diabetes mellitus, Obesity, Irregular menstruation, Increased cir... OMIM:144800
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Villous atrophy, Vomiting OMIM:615863
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Thyroid Hypoplasia
Macroglossia, Thyroid hypoplasia, Hypothyroidism, Constipation, Jaundice ORPHA:95720
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Tibial bowing, Fibular bowing, Short stature, Bow... OMIM:307800
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Short stature, Wormian bones, Pes planus, Osteopenia, Jo... OMIM:610967
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Short stature, Tapered finger, Multiple joint dislocation, Metaphyseal irregula... OMIM:618395
Slc35A2-Cdg
Metatarsus adductus, Limb joint contracture, Intrauterine growth retardation, Talipes equinovarus... ORPHA:356961
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Spondyloperipheral Dysplasia
Short stature, Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-s... OMIM:271700
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Short stature, Diaphyseal sclerosis, Craniofacial... OMIM:122860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Rothmund-Thomson Syndrome, Type 1
Short stature, Osteoporosis, Male hypogonadism, Hypothyroidism, Premature ovarian insufficiency OMIM:618625
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentration, Reduced rad... ORPHA:226307
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral den... OMIM:619489
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Pendred Syndrome
Cochlear malformation, Thyroid carcinoma, Vestibular dysfunction, Goiter, Congenital sensorineura... OMIM:274600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized li... OMIM:612526
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Enlargement of the wrist... OMIM:300009
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, Finger syndact... ORPHA:3329
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hypothermia, Ventricular tachycardia, Dicarboxyli... ORPHA:159
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:66628
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Thin bony cortex, Short statu... ORPHA:249
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Macroglossia, Thyroid hypoplasia, Bradycardia... OMIM:218700
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Vomiting, Hyperinsulinemic hypoglycemia, Hepatic failure, Diarrhea, Protein-losi... OMIM:602579
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Primary Erythromelalgia
Vasculitis, Hypothermia ORPHA:90026
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Intrauterine growth retardation, Talipes equinovarus, Cran... OMIM:251230
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Frontal bossing, Childhood onset short-limb sh... OMIM:146000
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Abnormal cerebellum morphology, Anxiety, Gait ataxia, Depression,... OMIM:123400
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... ORPHA:45452
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:179494
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Postnatal growth retardation, Short stature OMIM:616113
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... ORPHA:166119
Graves Disease, Susceptibility To, 1
Goiter, Weight loss, Congestive heart failure, Hyperhidrosis, Graves disease OMIM:275000
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss, Hyperthyroidism, Activating ... ORPHA:424
Menkes Disease
Intrauterine growth retardation, Short stature, Brachycephaly, Metaphyseal widening, Joint laxity... OMIM:309400
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Genu varum, Tibial bowing, Lower limb asymmetry, Short stature, Enlargem... ORPHA:289176
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the lower limb... ORPHA:2141
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Congenital Atransferrinemia
Arthritis, Hypothyroidism ORPHA:1195
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Short stature, Metaph... ORPHA:2788
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Decreased small intestinal mucosa lactase level, Malabsorption, Abnormal small ... ORPHA:103907
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreased circulating T4... OMIM:618573
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Abnormal joint morphology, Abnormality of epiphysis morpholog... ORPHA:93351
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Precocious puberty in females, Oligomenorrhea, Hypertrichosis, Ameno... ORPHA:528
Spontaneous Periodic Hypothermia
Hypothermia, Arrhythmia, Hyperhidrosis ORPHA:29822
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Coxa valga, Abnormality of the elbow, Brachycephaly, Wide proximal femoral metaphys... ORPHA:163649
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, C... OMIM:611702
Osteogenesis Imperfecta, Type Xviii
Micrognathia, Thin bony cortex, Bowing of the long bones, Wormian bones, Generalized osteoporosis... OMIM:617952
Fetal Iodine Syndrome
Sensorineural hearing impairment, Hypothyroidism ORPHA:1910
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Vomiting, Hyperinsulinemi... ORPHA:263455
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... OMIM:301035
Pachydermoperiostosis
Genu varum, Abnormality of epiphysis morphology, Osteoporosis, Small hand, Abnormal cortical bone... ORPHA:2796
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Micrognathia, Tibial bowing, Neonatal short-limb short stature,... OMIM:259420
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Growth delay, Increased body mass index, Increased T3/T4 ... OMIM:614450
Type 1 Diabetes Mellitus
Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia OMIM:222100
Thyroid Lymphoma
Hashimoto thyroiditis, Hyperthyroidism, Goiter, Hypothyroidism ORPHA:97285
Osteopetrosis, Autosomal Dominant 1
Thickened calvaria, Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Ca... OMIM:607634
Insulin-Like Growth Factor I Deficiency
Micrognathia, Osteopenia, Radial deviation of finger, Hyperactivity, Clinodactyly OMIM:608747
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodyst... ORPHA:79085
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Trehalase Deficiency
Diarrhea, Malabsorption, Vomiting, Abnormal enzyme/coenzyme activity ORPHA:103909
Lipodystrophy, Congenital Generalized, Type 4
Dysphagia, Prolonged QT interval, Atrial fibrillation, Hirsutism, Insulin resistance, Failure to ... OMIM:613327
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Optic atrophy, Prolonged QT interval, Noncompaction cardiomyopathy, Conge... OMIM:610198
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Decreased circulating co... OMIM:600955
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Achondrogenesis Type 2
Micromelia, Delayed proximal femoral epiphyseal ossification, Short stature, Short ribs, Absent v... ORPHA:93296
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... ORPHA:1952
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spinocerebellar Ataxia 12
Dementia, Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadoc... OMIM:604326
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Weight loss, Hyperthyroidism, Activating thyroid-stimulating hormone... ORPHA:99819
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the patella, Neutropenia, Short stature, Leukemia, Increased susceptibility... ORPHA:2909
Saccharopinuria
Hypercystinemia, Cognitive impairment, Cystinuria, Hyperammonemia, Tremor, Abnormality of circula... ORPHA:3124
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Growth delay, Thin l... ORPHA:93324
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance OMIM:606721
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis, Primary amenorrhea, Decreased ser... OMIM:614962
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Osteoporosis, Osteopenia, Ankle clonus, Hypoplasia of the ulna OMIM:615398
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypothyroidism OMIM:601005
Diamond-Blackfan Anemia 11
Neutropenia, Short stature, Bone marrow hypocellularity, Anemia, Hypoplasia of the radius, Abnorm... OMIM:614900
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... ORPHA:99832
Hypophosphatemic Rickets
Elevated circulating parathyroid hormone level, Fibrous dysplasia of the bones, Rickets, Failure ... ORPHA:437
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia OMIM:616276
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Van Den Ende-Gupta Syndrome
Hallux valgus, Narrow foot, Talipes equinovarus, Craniosynostosis, Glenoid fossa hypoplasia, Join... OMIM:600920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Congenital hypothyroidism ORPHA:88643
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Hyperlipidemia, Insulin resistance,... ORPHA:435660
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Hypothyroidism OMIM:264300
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mietens Syndrome
Metatarsus adductus, Coxa valga, Elbow ankylosis, Talipes, Avascular necrosis of the capital femo... ORPHA:2557
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Knee dislocation, Small epiphyses, Microretrognathia, Hip contracture, Micrognathia, Pes planus, ... OMIM:618363
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Prolonged QT interval, Ventricular fibrillation,... ORPHA:79102
3M Syndrome
Hypoplastic pelvis, Intrauterine growth retardation, Abnormality of the elbow, Rocker bottom foot... ORPHA:2616
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Elbow ankylosis, Congenital hypothyroidism, Failure to thrive, H... ORPHA:96183
Morgagni-Stewart-Morel Syndrome
Hypertension, Osteoporosis, Abnormality of the endocrine system, Hyperostosis frontalis interna, ... ORPHA:77296
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating... ORPHA:90301
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Mental Retardation, Autosomal Dominant 52