MCID: MRS002
MIFTS: 47

Marshall Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Ear diseases, Smell/Taste diseases categories
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Summaries for Marshall Syndrome

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 11/29/2011

MalaCards: Marshall Syndrome, also known as deafness, myopia, cataract, saddle nose-marshall type, is related to periodic fever, aphthous stomatitis, pharyngitis and adenitis and marshall syndrome with periodic fever, and has symptoms including retinal detachment, hypotrichosis/atrichia/atrichiasis/scalp hairlessness and anomalies of eyelids, eyelashes and lacrimal system. An important gene associated with Marshall Syndrome is COL11A1 (collagen, type XI, alpha 1), and among its related pathways are Phospholipase-C Pathway and Integrin Pathway. The compound oligonucleotide have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Wikipedia:65 Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three... more...

Description from OMIM:47 154780

Aliases & Classifications for Marshall Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
marshall syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

marshall syndrome 43 20 22 47 49 62
deafness, myopia, cataract, saddle nose-marshall type 43


External Ids:

OMIM47 154780
MESH via Orphanet36 C536025
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet59 33410002
UMLS via Orphanet63 C0265235

Related Diseases for Marshall Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Marshall Syndrome:



Diseases related to marshall syndrome

Symptoms for Marshall Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

154780

Clinical features from OMIM:

154780

Symptoms:

49 (show all 41)
  • retinal detachment
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • anomalies of eyelids, eyelashes and lacrimal system
  • flat face
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • strabismus/squint
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • myopia
  • depressed premaxillary region/midface
  • glaucoma
  • lens dislocation/luxation/subluxation/ectopia lentis
  • proptosis/exophthalmos
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • absent/decreased/thin eyebrows
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • frontal sinus agenesis/anomaly
  • long philtrum
  • brachycephaly/flat occiput
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • intracranial/cerebral calcifications
  • nystagmus
  • osteoarthritis
  • genu valgum
  • flat cheek bones/malar hypoplasia
  • hypertelorism
  • cataract/lens opacification
  • depressed nasal bridge
  • articular/joint pain/arthralgia
  • visual loss/blindness/amblyopia
  • short stature/dwarfism/nanism
  • sensorineural deafness/hearing loss
  • anteverted nares/nostrils
  • mild visual loss/impaired visual acuity
  • anomalies of teeth and dentition
  • thick lips
  • broad nose/nasal bridge
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Marshall Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Marshall Syndrome

Search NIH Clinical Center for Marshall Syndrome

Genetic Tests for Marshall Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Marshall Syndrome:

id Genetic test Affiliating Genes
1 Marshall Syndrome20 22 COL11A1

Anatomical Context for Marshall Syndrome

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33MalaCards
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MalaCards organs/tissues related to Marshall Syndrome:

33
Eye, Bone, Skin

Animal Models for Marshall Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Marshall Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2COL2A1, COL11A1
2MP:00053719.1COL2A1, COL11A1
3MP:00053819.1COL2A1, COL11A1
4MP:00053829.0COL11A1, COL2A1
5MP:00053888.8COL2A1, COL11A1

Publications for Marshall Syndrome

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52PubMed
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Articles related to Marshall Syndrome:

(show all 20)
idTitleAuthorsYear
1
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. (22499343)
2012
2
Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report. (20199420)
2010
3
Mosaicism in Marshall syndrome. (19449424)
2009
4
Vitreous veils and radial lattice in Marshall syndrome. (19005991)
2008
5
Marshall syndrome. (15767717)
2005
6
Prenatal diagnosis of marshall syndrome by targeted sonography. (16301732)
2005
7
Spontaneous rupture of the lens capsule in a case of Marshall syndrome. (12353903)
2002
8
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. (10889003)
2000
9
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. (10486316)
1999
10
Gene symbol: COL11A1. Disease: Marshall syndrome. (9600252)
1998
11
Marshall syndrome associated with a splicing defect at the COL11A1 locus. (9529347)
1998
12
Marshall syndrome and a defect at the COL11A1 locus. (9792885)
1998
13
The Marshall syndrome: report of a new family and review of the literature. (9129742)
1997
14
Marshall syndrome. (1951461)
1991
15
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. (4014313)
1985
16
Extreme upper airway obstruction with the Marshall syndrome. (6211325)
1982
17
Marshall syndrome: a condition resembling congenital syphilis. (7214117)
1981
18
Generalized osseous abnormalities in the Marshall syndrome. (953235)
1976
19
Letter: Marshall syndrome: eulogy or resurrection? (1133671)
1975
20
The Marshall syndrome: report of a new family. (4826625)
1974

Variations for Marshall Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Marshall Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL11A1COL11A1, 54-BP DELdeletionPathogenic/card/marshall_syndrome
2COL11A1COL11A1, 4-BP DEL, EX50/IVS50deletionPathogenic/card/marshall_syndrome
3COL11A1COL11A1, 1-BP INS, 3816TinsertionPathogenic/card/marshall_syndrome
4COL11A1NM_080629.2(COL11A1): c.3852+1G> Asingle nucleotide variantPathogenicrs398122828GRCh37Chr 1, 103381186: 103381186

Expression for genes affiliated with Marshall Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Marshall Syndrome

Search GEO for disease gene expression data for Marshall Syndrome.

Pathways for genes affiliated with Marshall Syndrome

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50PathCards, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Compounds for genes affiliated with Marshall Syndrome

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45Novoseek
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Compounds related to Marshall Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oligonucleotide459.1COL2A1, COL11A1

GO Terms for genes affiliated with Marshall Syndrome

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16Gene Ontology
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Cellular components related to Marshall Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL2A1, COL11A1

Biological processes related to Marshall Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.3COL2A1, COL11A1
2cartilage condensationGO:0015029.3COL2A1, COL11A1
3collagen fibril organizationGO:0301999.3COL2A1, COL11A1
4inner ear morphogenesisGO:0424729.2COL2A1, COL11A1
5collagen catabolic processGO:0305749.2COL11A1, COL2A1
6extracellular matrix disassemblyGO:0226179.1COL2A1, COL11A1
7extracellular matrix organizationGO:0301989.1COL2A1, COL11A1
8sensory perception of soundGO:0076059.0COL2A1, COL11A1
9visual perceptionGO:0076018.8COL2A1, COL11A1

Products for genes affiliated with Marshall Syndrome

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  • Antibodies
  • Proteins
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Sources for Marshall Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet