Chromosome 2q37 Deletion Syndrome (BDMR)

Chromosome 2q37 Deletion Syndrome(来自ICD-11)

别称:

Albright Hereditary Osteodystrophy-Like Syndrome

2q37 Microdeletion Syndrome

Deletion 2q37

Brachydactyly-Intellectual Disability Syndrome

Albright Hereditary Osteodystrophy Type 3

Monosomy 2q37qter

Del(2)(q37)

Brachydactyly-Mental Retardation Syndrome

2q37 Deletion Syndrome

Bdmr

Albright's Hereditary Osteodystrophy-Like Syndrome

Chromosome Deletion Syndrome 2q37

Monosomy 2q37

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chromosome 2q37 Deletion Syndrome, also known as albright hereditary osteodystrophy-like syndrome, is related to pseudohypoparathyroidism, type ia and pseudopseudohypoparathyroidism. An important gene associated with Chromosome 2q37 Deletion Syndrome is HDAC4 (Histone Deacetylase 4), and among its related pathways/superpathways are G alpha (s) signalling events and 2q37 copy number variation syndrome. Affiliated tissues include kidney and bone, and related phenotypes are intellectual disability and hypotonia

查看原文参与反馈