KEGG DISEASE: Congenital neuromuscular disorder with dysmorphic facies

KEGG

DISEASE: Congenital neuromuscular disorder with dysmorphic facies

Entry

H02742                      Disease

Name

Congenital neuromuscular disorder with dysmorphic facies

Description

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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02742  Congenital neuromuscular disorder with dysmorphic facies

Gene

FILIP1 [HSA:27145] [KO:K27698]

Other DBs

ICD-11:

OMIM:

Reference

Authors

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

Title

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

Journal

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

Reference

Authors

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

Title

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

Journal

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

LinkDB

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