KEGG DISEASE: Vertebral anomalies and variable endocrine and T-cell dysfunction

KEGG

DISEASE: Vertebral anomalies and variable endocrine and T-cell dysfunction

Entry

H02753                      Disease

Name

Vertebral anomalies and variable endocrine and T-cell dysfunction

Description

Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is a new multisystem malformation disorder caused by mutations in TBX2. Common clinical manifestations include congenital cardiac defects, skeletal abnormalities, facial dysmorphia, variable developmental delay and endocrine system disorders. TBX2 encodes a T-box transcriptional regulator. T-box family proteins are involved in all stages of embryonic development.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02753  Vertebral anomalies and variable endocrine and T-cell dysfunction

Gene

TBX2 [HSA:6909] [KO:K10176]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S, Wangler MF, Bellen HJ, Shashi V, Yamamoto S

Title

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Journal

Hum Mol Genet 27:2454-2465 (2018)
DOI:10.1093/hmg/ddy146

LinkDB

» Japanese version

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