KEGG DISEASE: Keipert syndrome

DISEASE: Keipert syndrome

Entry

H02326                      Disease

Name

Keipert syndrome;
Nasodigitoacoustic syndrome

Description

Keipert syndrome (KPTS) is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02326  Keipert syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H02326  Keipert syndrome

Pathway

hsa04310

Wnt signaling pathway

hsa04517

IGSF CAM signaling

Network

nt06546 IgSF CAM signaling

Gene

GPC4 [HSA:2239] [KO:K08110]

Other DBs

ICD-11:

LD2H.Y

MeSH:

C538337

OMIM:

301026

Reference

PMID:17726694

Authors

Amor DJ, Dahl HH, Bahlo M, Bankier A

Title

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.

Journal

Am J Med Genet A 143A:2236-41 (2007)
DOI:10.1002/ajmg.a.31917

Reference

PMID:30982611

Authors

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumic M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ

Title

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Journal

Am J Hum Genet 104:914-924 (2019)
DOI:10.1016/j.ajhg.2019.02.026

LinkDB

» Japanese version

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