Details of Disease

General Information of Disease (ID: DISADTID)

Disease Name Marshall syndrome
Synonyms deafness, myopia, cataract, saddle nose-Marshall type; MRSHS; Marshall syndrome
Definition
Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Disease Hierarchy
DISB52BH: Eye disorder
DIS1JG9A: Spondyloepiphyseal dysplasia
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISLRS4M: Ectodermal dysplasia
DISADTID: Marshall syndrome
Disease Identifiers
MONDO ID
MONDO_0007949
MESH ID
C536025
UMLS CUI
C0265235
OMIM ID
154780
MedGen ID
82694
Orphanet ID
560
SNOMED CT ID
33410002

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
COL11A1 OTB0DRMS Definitive Autosomal recessive [1]
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References

1 A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783.