MCID: 2Q3001
MIFTS: 12

2q37 Deletion Syndrome

Categories: Rare diseases, Neuronal diseases, Bone diseases, Mental diseases

Aliases & Classifications for 2q37 Deletion Syndrome

MalaCards integrated aliases for 2q37 Deletion Syndrome:

Name: 2q37 Deletion Syndrome 50 25
Albright Hereditary Osteodystrophy-Like Syndrome 50 25
Chromosome 2q37 Deletion Syndrome 50 69
Brachydactyly-Intellectual Disability Syndrome 50
Brachydactyly-Mental Retardation Syndrome 25

Classifications:



Summaries for 2q37 Deletion Syndrome

NIH Rare Diseases : 50 2q37 deletionsyndrome is a chromosome disease that can affect many parts of the body. about 100 cases have been reported worldwide. this condition is characterized by short stature, weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as short bones of the hand and of 3-5 fingers, and abnormal lateral curvature of the spine (scoliosis). other findings include seizures (20%-35%), congenital heart disease, brain abnormalities (hydrocephalus, dilated ventricles), umbilical/inguinal hernia, tracheomalacia, gastrointestinal abnormalities, and kidney malformations. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. most cases are not inherited. treatment depends on the symptoms and may require several specialists. last updated: 4/19/2017

MalaCards based summary : 2q37 Deletion Syndrome, also known as albright hereditary osteodystrophy-like syndrome, is related to chromosome 2q37 deletion syndrome. Affiliated tissues include kidney, heart and brain.

Genetics Home Reference : 25 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities.

Wikipedia : 72 2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2.2q37... more...

Related Diseases for 2q37 Deletion Syndrome

Diseases related to 2q37 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chromosome 2q37 deletion syndrome 12.3

Symptoms & Phenotypes for 2q37 Deletion Syndrome

Drugs & Therapeutics for 2q37 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 2q37 Deletion Syndrome

Genetic Tests for 2q37 Deletion Syndrome

Anatomical Context for 2q37 Deletion Syndrome

MalaCards organs/tissues related to 2q37 Deletion Syndrome:

39
Kidney, Heart, Brain, Bone

Publications for 2q37 Deletion Syndrome

Articles related to 2q37 Deletion Syndrome:

id Title Authors Year
1
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis. ( 28690993 )
2017
2
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. ( 24755370 )
2014

Variations for 2q37 Deletion Syndrome

Expression for 2q37 Deletion Syndrome

Search GEO for disease gene expression data for 2q37 Deletion Syndrome.

Pathways for 2q37 Deletion Syndrome

GO Terms for 2q37 Deletion Syndrome

Sources for 2q37 Deletion Syndrome

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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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