KEGG   DISEASE: Fronto-otopalatodigital syndromes
Entry
H00456                      Disease                                
Name
Fronto-otopalatodigital syndromes
  Subgroup
Otopalatodigital syndrome, type I
Otopalatodigital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Description
Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked fashion and characterized by a typical facial appearance and generalized osteodysplasia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD25  Syndromes with face or limb anomalies as a major feature
    H00456  Fronto-otopalatodigital syndromes
Pathway
hsa04010  MAPK signaling pathway
hsa04510  Focal adhesion
Gene
FLNA [HSA:2316] [KO:K04437]
Other DBs
ICD-11: LD25.1
ICD-10: Q77.8 Q78.5
MeSH: C538064 C536065 C538089
OMIM: 311300 304120 309350 305620
Reference
PMID:10706363
  Authors
Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E
  Title
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
  Journal
Am J Med Genet 90:407-22 (2000)
DOI:10.1002/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D
Reference
PMID:21031081
  Authors
Foley C, Roberts K, Tchrakian N, Morgan T, Fryer A, Robertson SP, Tubridy N
  Title
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
  Journal
Mol Syndromol 1:121-126 (2010)
DOI:10.1159/000320184

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Disease (4)   
   OMIM (4)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (8)   

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