KEGG DISEASE: Retinal dystrophy and microvillus inclusion disease

KEGG

DISEASE: Retinal dystrophy and microvillus inclusion disease

Entry

H02655                      Disease

Name

Retinal dystrophy and microvillus inclusion disease

Description

Retinal dystrophy and microvillus inclusion disease (RDMVID) is a novel syndrome characterized by early-onset severe retinal dystrophy and hereditary diarrhea. It has been reported that mutations in the syntaxin 3 gene (STX3) cause this syndrome. Syntaxin genes code for N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that catalyze the fusion between vesicles and their target membranes.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD21  Syndromes with eye anomalies as a major feature
    H02655  Retinal dystrophy and microvillus inclusion disease

Pathway

hsa04130 SNARE interactions in vesicular transport

hsa04721 Synaptic vesicle cycle

Gene

STX3 [HSA:6809] [KO:K08486]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Janecke AR, Liu X, Adam R, Punuru S, Viestenz A, Strauss V, Laass M, Sanchez E, Adachi R, Schatz MP, Saboo US, Mittal N, Rohrschneider K, Escher J, Ganesh A, Al Zuhaibi S, Al Murshedi F, AlSaleem B, Alfadhel M, Al Sinani S, Alkuraya FS, Huber LA, Muller T, Heidelberger R, Janz R

Title

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

Journal

Hum Genet 140:1143-1156 (2021)
DOI:10.1007/s00439-021-02284-1

Reference

Authors

Alsaleem BMR, Ahmed ABM, Fageeh MA

Title

Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea.

Journal

Case Rep Gastroenterol 11:647-651 (2017)
DOI:10.1159/000479624

LinkDB

» Japanese version

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