MCID: MRS002
MIFTS: 44

Marshall Syndrome malady

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

Summaries for Marshall Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 stickler syndrome and periodic fever, aphthous stomatitis, pharyngitis and adenitis, and has symptoms including brachycephaly/flat occiput, flat face and hypertelorism. 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 brain, skin and t cells, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Wikipedia:64 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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone, Skin, Ear, Smell/Taste


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 61
deafness, myopia, cataract, saddle nose-marshall type 43


External Ids:

OMIM47 154780
MESH via Orphanet36 C536025
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet58 33410002
UMLS via Orphanet62 C0265235

Related Diseases for Marshall Syndrome

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



Diseases related to marshall syndrome

Clinical Features for Marshall Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

154780

Clinical synopsis from OMIM:

154780

Symptoms:

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

Drugs & Therapeutics for Marshall Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Marshall Syndrome

Drug clinical trials:

Search ClinicalTrials for Marshall Syndrome

Search NIH Clinical Center for Marshall Syndrome

Search CenterWatch for Marshall Syndrome

Genetic Tests for Marshall Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Marshall Syndrome:

33
Brain, Skin, T cells

Animal Models for Marshall Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Marshall Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5COL11A2, COL2A1, COL11A1
2MP:00053778.2COL11A2, COL2A1, COL11A1

Publications for Marshall Syndrome

Sources:
51PubMed
See all sources

Articles related to Marshall Syndrome:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. (22499343)
2012
2
A pigmentary skin defect is a new finding in Marshall-Smith syndrome. (21739579)
2011
3
Anesthesia out of surgical area in a child with Marshall-Smith Syndrome. (21273971)
2011
4
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. (21790824)
2011
5
Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. (20731866)
2010
6
Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report. (20199420)
2010
7
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. (20303330)
2010
8
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. (20673863)
2010
9
Vitreous veils and radial lattice in Marshall syndrome. (19005991)
2008
10
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. (16531739)
2006
11
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. (16086394)
2005
12
Marshall syndrome. (15767717)
2005
13
Marshall Smith syndrome and pregnancy. (14766465)
2004
14
Marshall-Smith syndrome: Follow-up report of a four and a half year old male. (15054853)
2004
15
Long-term follow-up of Marshall-Smith syndrome: report of one case. (15624371)
2004
16
Osseous fragility in Marshall-Smith syndrome. (12749068)
2003
17
Spontaneous rupture of the lens capsule in a case of Marshall syndrome. (12353903)
2002
18
Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. (12239732)
2002
19
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. (10889003)
2000
20
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. (10406675)
1999
21
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. (10486316)
1999
22
Marshall-Smith syndrome: case report of a newborn male and review of the literature. (10457856)
1999
23
Gene symbol: COL11A1. Disease: Marshall syndrome. (9600252)
1998
24
Anaesthetic management of a child with Marshall-Smith syndrome. (9717599)
1998
25
Marshall syndrome associated with a splicing defect at the COL11A1 locus. (9529347)
1998
26
Marshall syndrome and a defect at the COL11A1 locus. (9792885)
1998
27
Neonatal death in Marshall-Smith syndrome. (9555581)
1998
28
Difficult airway in a patient with Marshall-Smith syndrome. (9742541)
1998
29
The Marshall syndrome: report of a new family and review of the literature. (9129742)
1997
30
Retinal capillary hemangioma in Marshall-Stickler syndrome. (9222251)
1997
31
The Marshall-Smith syndrome: a review of the laryngeal complications. (9208244)
1997
32
Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. (7574835)
1995
33
Marshall-Smith syndrome: a distinct entity. (7883370)
1994
34
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. (8230168)
1993
35
Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report. (2072173)
1991
36
Marshall syndrome. (1951461)
1991
37
The Marshall-Smith syndrome. (2079077)
1990
38
A case of Marshall-Smith or Weaver syndrome. (2593121)
1989
39
Marshall-Smith syndrome: further delineation. (3051433)
1988
40
Marshall-Smith syndrome: new aspects. (3205374)
1988
41
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. (4014313)
1985
42
Marshall/Stickler syndrome. (7077624)
1982
43
Extreme upper airway obstruction with the Marshall syndrome. (6211325)
1982
44
Marshall syndrome: a condition resembling congenital syphilis. (7214117)
1981
45
Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges. (758435)
1979
46
The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations. (The so-called Marshall-Smith syndrome). (827733)
1976
47
Generalized osseous abnormalities in the Marshall syndrome. (953235)
1976
48
Letter: Marshall syndrome: eulogy or resurrection? (1133671)
1975
49
Letter: The demise of the Marshall syndrome. (4420090)
1974
50
The Marshall syndrome: report of a new family. (4826625)
1974

Genetic Variations for Marshall Syndrome

Expression for genes affiliated with Marshall Syndrome

Sources:
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 54Reactome
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Compounds for genes affiliated with Marshall Syndrome

Sources:
45Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Marshall Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chloramphenicol45 2 1111.3ELANE, COL2A1
2alginate459.0ELANE, COL2A1

GO Terms for genes affiliated with Marshall Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marshall Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet