KEGG   DISEASE: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
Entry
H02733                      Disease                                
Name
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
Description
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is a novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ZPR1 encodes a regulatory protein involved in cell proliferation and signal transduction.
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
    H02733  Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
Gene
ZPR1 [HSA:8882] [KO:K06874]
Other DBs
ICD-11: LD2F.Y
OMIM: 619321
Reference
PMID:29851065
  Authors
Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL, Dyment DA, Boycott KM, Clericuzio CL
  Title
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
  Journal
Clin Genet 94:303-312 (2018)
DOI:10.1111/cge.13388
LinkDB

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