KEGG DISEASE: Cerebellofaciodental syndrome

KEGG

DISEASE: Cerebellofaciodental syndrome

Entry

H02271                      Disease

Name

Cerebellofaciodental syndrome

Description

Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Biallelic missense alterations of BRF1 have been revealed in CFDS families. It is suggested that BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

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
    H02271  Cerebellofaciodental syndrome

Gene

BRF1 [HSA:2972] [KO:K15196]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Borck G, Hog F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmuller J, Reymond A, Nurnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C

Title

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Journal

Genome Res 25:155-66 (2015)
DOI:10.1101/gr.176925.114

LinkDB

» Japanese version

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