Marshall Syndrome (MRSHS)

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Disease Ontology 12 DOID:0111510 OMIM 56 154780 KEGG 36 H02081 MeSH 43 C536025 D002386 D004476 D006319 D009216 D019465 more NCIt 49 C128115 SNOMED-CT 67 33410002 MESH via Orphanet 44 C536025

ICD10 via Orphanet 33 E85.0 Q87.0 UMLS via Orphanet 72 C0265235 C2938935 Orphanet 58 ORPHA42642 ORPHA560 MedGen 41 C0265235 SNOMED-CT via HPO 68 128306009 128602000 13649004 161832001 16294009 16596007 16932000 17944005 18265008 193570009 194021007 21522001 22006008 22066006 225655006 237836003 23986001 247053007 248274002 249310005 249321001 25786006 262285001 263681008 27272007 277843001 299236004 299330008 30746006 32958008 3723001 37796009 387742006 396275006 42059000 422775003 45004005 45170000 4602007 563001 57190000 57676002 60700002 609587005 63567004 708670007 74969002 79410001 80515008 84229001 87979003 89362005 90145001 95515009 more UMLS 71 C0265235

UniProtKB/Swiss-Prot : ⁷³ Marshall syndrome: An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures.

MalaCards based summary : Marshall Syndrome, also known as mrshs, is related to stickler syndrome and sensorineural hearing loss. An important gene associated with Marshall Syndrome is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Histone Deacetylase Inhibitors and Givinostat hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related phenotypes are cataract and depressed nasal bridge

Disease Ontology : ¹² An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has material basis in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome.

NIH Rare Diseases : ⁵² Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss , and early-onset arthritis . Those with Marshall syndrome can also have short stature . Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome ; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.

OMIM : ⁵⁶ Marshall syndrome (MRSHS) is charactized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In constrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009). (154780)

KEGG : ³⁶ Marshall syndrome is a rare autosomal dominant skeletal dysplasia caused by mutations in COL11A1, which encodes collagen type XI alpha-1 chain. It is characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.

Wikipedia : ⁷⁴ Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized... more...

Clinical features from OMIM:

154780

Search NIH Clinical Center for Marshall Syndrome

Search GEO for disease gene expression data for Marshall Syndrome.