MCID: MRS002
MIFTS: 43

Marshall Syndrome malady

Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Ear diseases, Smell/Taste diseases categories

Summaries for Marshall Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 stickler syndrome and periodic fever, aphthous stomatitis, pharyngitis and adenitis, and has symptoms including intracranial/cerebral calcifications, cleft palate without cleft lip/submucosal cleft palate/bifid uvula and frontal sinus agenesis/anomaly. An important gene associated with Marshall Syndrome is COL11A1 (collagen, type XI, alpha 1), and among its related pathways are Neural Crest Differentiation and PTEN Pathway. The compounds chloramphenicol and alginate have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Wikipedia:63 Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three... more...

Description from OMIM:46 154780

Aliases & Classifications for Marshall Syndrome

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
marshall syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

marshall syndrome 42 20 22 46 48 60
deafness, myopia, cataract, saddle nose-marshall type 42


External Ids:

OMIM46 154780
MESH via Orphanet35 C536025
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 33410002
UMLS via Orphanet61 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

Clinical Features for Marshall Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

154780

Clinical synopsis from OMIM:

154780

Symptoms:

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

Drugs & Therapeutics for Marshall Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Marshall Syndrome:

32
Eye, Bone, Skin

Animal Models for Marshall Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Marshall Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5COL11A2, COL2A1, COL11A1
2MP:00053778.2COL11A2, COL2A1, COL11A1

Publications for Marshall Syndrome

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Genetic Variations for Marshall Syndrome

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Expression for genes affiliated with Marshall Syndrome

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1BioGPS, 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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37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 53Reactome
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Compounds for genes affiliated with Marshall Syndrome

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44Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Marshall Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chloramphenicol44 2 1111.3ELANE, COL2A1
2alginate449.0ELANE, COL2A1

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
1collagen type XIGO:0055929.0COL11A2, COL11A1
2endoplasmic reticulum lumenGO:0057888.2COL11A2, COL2A1, COL11A1
3extracellular regionGO:0055768.0ELANE, COL11A2, COL2A1, COL11A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.5COL2A1, COL11A1
2cartilage condensationGO:0015029.4COL2A1, COL11A1
3inner ear morphogenesisGO:0424729.4COL2A1, COL11A1
4visual perceptionGO:0076019.3COL2A1, COL11A1
5palate developmentGO:0600219.0COL2A1, COL11A2
6cartilage developmentGO:0512168.9COL11A2, COL2A1
7skeletal system developmentGO:0015018.7COL11A2, COL2A1
8collagen fibril organizationGO:0301998.7COL11A2, COL2A1, COL11A1
9sensory perception of soundGO:0076058.7COL11A1, COL2A1, COL11A2
10collagen catabolic processGO:0305748.2ELANE, COL11A2, COL2A1, COL11A1
11extracellular matrix disassemblyGO:0226178.2COL11A1, COL2A1, COL11A2, ELANE
12extracellular matrix organizationGO:0301988.2COL11A1, COL2A1, COL11A2, ELANE

Molecular functions related to Marshall Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.1COL11A2, COL11A1
2extracellular matrix structural constituent conferring tensile strengthGO:0300208.7COL11A2, COL2A1

Products for genes affiliated with Marshall Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marshall Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet