KEGG DISEASE: TARP syndrome

KEGG

DISEASE: TARP syndrome

Entry

H00943                      Disease

Name

TARP syndrome

Description

TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava. It is inherited in an X-linked recessive pattern. Expression analysis of mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions.

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
    H00943  TARP syndrome

Gene

RBM10 [HSA:8241] [KO:K13094]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG

Title

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

Journal

Am J Hum Genet 86:743-8 (2010)
DOI:10.1016/j.ajhg.2010.04.007

Reference

Authors

Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG

Title

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

Journal

Am J Med Genet A 155A:2516-20 (2011)
DOI:10.1002/ajmg.a.34190

Reference

Authors

Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG

Title

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.

Journal

Am J Med Genet A 120A:1-4 (2003)
DOI:10.1002/ajmg.a.10201

LinkDB

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