KEGG   DISEASE: Alfadhel syndrome
Entry
H02746                      Disease                                
Name
Alfadhel syndrome
Description
Alfadhel syndrome is a new syndrome characterized by dysmorphic feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine nucleotide exchange factor (GEF) that regulates small GTPases.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02746  Alfadhel syndrome
Gene
RAP1GDS1 [HSA:5910]
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.8
OMIM: 620655
Reference
PMID:32431071
  Authors
Asiri A, Aloyouni E, Umair M, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Almuzzaini B, Al Baz A, Alwadaani D, Nashabat M, Alfadhel M
  Title
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.
  Journal
Ann Clin Transl Neurol 7:956-964 (2020)
DOI:10.1002/acn3.51059
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