KEGG DISEASE: 顔異形を伴う先天性神経筋疾患

DISEASE: 顔異形を伴う先天性神経筋疾患

エントリ

H02742

名称

顔異形を伴う先天性神経筋疾患

概要

Congenital neuromuscular disorder with dysmorphic facies (NMDF) is a novel autosomal recessive disorder caused by loss-of-function mutations in FILIP1. Patients exhibit a broad spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle weakness and pathology and dysmorphic features. FILIP1 is a structural protein that is involved in neuronal and muscle function and integrity and interacts with filamin.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD24  主な特徴として骨格の異常を伴う症候群
    H02742  顔異形を伴う先天性神経筋疾患

病因遺伝子

FILIP1 [HSA:27145] [KO:K27698]

リンク

ICD-11:

LD24.Y

OMIM:

620775

文献

PMID:37163662

著者

Roos A, van der Ven PFM, Alrohaif H, Kolbel H, Heil L, Della Marina A, Weis J, Assent M, Beck-Wodl S, Barresi R, Topf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schroder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Robisch L, Hentschel A, Gruneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmuller H

タイトル

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.

雑誌

Brain 146:4200-4216 (2023)
DOI:10.1093/brain/awad152

文献

PMID:36943452

著者

Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmuller J, Nurnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G

タイトル

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

雑誌

Hum Genet 142:543-552 (2023)
DOI:10.1007/s00439-023-02528-2

LinkDB

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