KEGG DISEASE: Cleft palate, psychomotor retardation, and distinctive facial features

KEGG

DISEASE: Cleft palate, psychomotor retardation, and distinctive facial features

Entry

H02381                      Disease

Name

Cleft palate, psychomotor retardation, and distinctive facial features

Description

Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features, skeletal anomalies, and cognitive impairment. It has been reported that de novo mutations in KDM1A cause this disease. KDM1A is a histone demethylase that has been shown to play diverse and key roles in regulating gene expression during 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
    H02381  Cleft palate, psychomotor retardation, and distinctive facial features

Gene

KDM1A [HSA:23028] [KO:K11450]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ

Title

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.

Journal

Genet Med 18:788-95 (2016)
DOI:10.1038/gim.2015.161

Reference

Authors

Pilotto S, Speranzini V, Marabelli C, Rusconi F, Toffolo E, Grillo B, Battaglioli E, Mattevi A

Title

LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors.

Journal

Hum Mol Genet 25:2578-2587 (2016)
DOI:10.1093/hmg/ddw120

Reference

Authors

Tunovic S, Barkovich J, Sherr EH, Slavotinek AM

Title

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

Journal

Am J Med Genet A 164A:1744-9 (2014)
DOI:10.1002/ajmg.a.36450

LinkDB

» Japanese version

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