Details of Disease

General Information of Disease (ID: DISANNCT)

Disease Name BRESEK syndrome
Synonyms BRESHECK syndrome
Definition
A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISANNCT: BRESEK syndrome
Disease Identifiers
MONDO ID
MONDO_0019414
MESH ID
C564519
UMLS CUI
C3502469
MedGen ID
502868
Orphanet ID
85284
SNOMED CT ID
717945001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MBTPS2 OT67CC7W Supportive X-linked [1]
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References

1 MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21.