KEGG   DISEASE: Neurofacioskeletal syndrome with or without renal agenesis
Entry
H02744                      Disease                                
Name
Neurofacioskeletal syndrome with or without renal agenesis
Description
Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is a syndrome characterized by developmental delay, corpus callosum agenesis or hypoplasia, facial dysmorphism, short stature, and other skeletal abnormalities. The majority of patients have renal agenesis. It has been reported that mutations in HS2ST1 cause this syndrome. HS2ST1 is one of several specialized enzymes required for heparan sulfate synthesis and catalyzes the transfer of the sulfate groups to the sugar moiety of heparan sulfate.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2E  Syndromes with structural anomalies due to inborn errors of metabolism
    H02744  Neurofacioskeletal syndrome with or without renal agenesis
Gene
HS2ST1 [HSA:9653] [KO:K02513]
Other DBs
ICD-11: LD2E
ICD-10: Q87.5
OMIM: 619194
Reference
PMID:33159882
  Authors
Schneeberger PE, von Elsner L, Barker EL, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg PJG, Weiss MM, Merry CLR, Kutsche K
  Title
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
  Journal
Am J Hum Genet 107:1044-1061 (2020)
DOI:10.1016/j.ajhg.2020.10.007
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