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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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 based summary: Marshall Syndrome, also known as deafness, myopia, cataract, saddle nose-marshall type, is related to periodic fever, aphthous stomatitis, pharyngitis and adenitis and cutis laxa, 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 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:46 154780

Aliases & Classifications for Marshall Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Marshall Syndrome, Aliases & Descriptions:

Name: Marshall Syndrome 42 20 22 46 48 62
 
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0265235
OMIM46 154780
MESH via Orphanet35 C536025

Related Diseases for Marshall Syndrome

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Diseases related to Marshall Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1periodic fever, aphthous stomatitis, pharyngitis and adenitis10.3
2cutis laxa10.1
3congenital syphilis10.1
4syphilis10.1
5skeletal dysplasias10.1
6acquired cutis laxa10.1
7vitreous syneresis9.9COL11A1, COL2A1
8stickler syndrome9.9COL11A1, COL2A1
9retinal detachment9.9COL11A1, COL2A1
10cleft palate9.9COL11A1, COL2A1
11sensorineural hearing loss9.8COL11A1, COL2A1
12myopia 69.8COL11A1, COL2A1

Graphical network of diseases related to Marshall Syndrome:



Diseases related to marshall syndrome

Symptoms for Marshall Syndrome

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Symptoms by clinical synopsis from OMIM:

154780

Clinical features from OMIM:

154780

Symptoms:

48 (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

HPO human phenotypes related to Marshall Syndrome:

(show all 72)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 thick lower lip vermilion hallmark (90%) HP:0000179
3 malar flattening hallmark (90%) HP:0000272
4 hypertelorism hallmark (90%) HP:0000316
5 long philtrum hallmark (90%) HP:0000343
6 micrognathia hallmark (90%) HP:0000347
7 sensorineural hearing impairment hallmark (90%) HP:0000407
8 anteverted nares hallmark (90%) HP:0000463
9 cataract hallmark (90%) HP:0000518
10 myopia hallmark (90%) HP:0000545
11 arthralgia hallmark (90%) HP:0002829
12 short stature hallmark (90%) HP:0004322
13 depressed nasal bridge hallmark (90%) HP:0005280
14 aplasia/hypoplasia involving the nose hallmark (90%) HP:0009924
15 cheekbone underdevelopment hallmark (90%) HP:0010669
16 cleft palate typical (50%) HP:0000175
17 glaucoma typical (50%) HP:0000501
18 visual impairment typical (50%) HP:0000505
19 proptosis typical (50%) HP:0000520
20 retinal detachment typical (50%) HP:0000541
21 hypohidrosis typical (50%) HP:0000966
22 ectopia lentis typical (50%) HP:0001083
23 cerebral calcification typical (50%) HP:0002514
24 abnormality of the frontal sinuses typical (50%) HP:0002687
25 osteoarthritis typical (50%) HP:0002758
26 genu valgum typical (50%) HP:0002857
27 abnormality of the vitreous humor typical (50%) HP:0004327
28 craniofacial hyperostosis typical (50%) HP:0004493
29 abnormal hair quantity typical (50%) HP:0011362
30 strabismus occasional (7.5%) HP:0000486
31 nystagmus occasional (7.5%) HP:0000639
32 frontal bossing occasional (7.5%) HP:0002007
33 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
34 autosomal dominant inheritance HP:0000006
35 cleft palate HP:0000175
36 thick lower lip vermilion HP:0000179
37 pierre-robin sequence HP:0000201
38 thick upper lip vermilion HP:0000215
39 malar flattening HP:0000272
40 epicanthus HP:0000286
41 hypertelorism HP:0000316
42 long philtrum HP:0000343
43 micrognathia HP:0000347
44 low-set ears HP:0000369
45 sensorineural hearing impairment HP:0000407
46 anteverted nares HP:0000463
47 glaucoma HP:0000501
48 congenital cataract HP:0000519
49 retinal detachment HP:0000541
50 myopia HP:0000545
51 esotropia HP:0000565
52 vitreoretinal degeneration HP:0000655
53 macrodontia of permanent maxillary central incisor HP:0000675
54 platyspondyly HP:0000926
55 hypoplastic ilia HP:0000946
56 coxa valga HP:0002673
57 thickened calvaria HP:0002684
58 absent frontal sinuses HP:0002688
59 radial bowing HP:0002986
60 ulnar bowing HP:0003031
61 short nose HP:0003196
62 short stature HP:0004322
63 depressed nasal bridge HP:0005280
64 calcification of falx cerebri HP:0005462
65 wide tufts of distal phalanges HP:0006095
66 irregular femoral epiphyses HP:0006361
67 irregular distal femoral epiphysis HP:0006407
68 irregular proximal tibial epiphyses HP:0006456
69 lens luxation HP:0012019
70 small distal femoral epiphysis HP:0012283
71 small proximal tibial epiphyses HP:0012284
72 meningeal calcification HP:0100250

Drugs & Therapeutics for Marshall Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Marshall Syndrome

Genetic Tests for Marshall Syndrome

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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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MalaCards organs/tissues related to Marshall Syndrome:

32
Eye, Bone, Skin

Animal Models for Marshall Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Marshall Syndrome:

36
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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Articles related to Marshall Syndrome:

(show all 22)
idTitleAuthorsYear
1
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. (25073711)
2014
2
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. (22499343)
2012
3
Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report. (20199420)
2010
4
Mosaicism in Marshall syndrome. (19449424)
2009
5
Vitreous veils and radial lattice in Marshall syndrome. (19005991)
2008
6
Marshall syndrome. (15767717)
2005
7
Prenatal diagnosis of marshall syndrome by targeted sonography. (16301732)
2005
8
Spontaneous rupture of the lens capsule in a case of Marshall syndrome. (12353903)
2002
9
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. (10889003)
2000
10
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. (10486316)
1999
11
Gene symbol: COL11A1. Disease: Marshall syndrome. (9600252)
1998
12
Marshall syndrome associated with a splicing defect at the COL11A1 locus. (9529347)
1998
13
Marshall syndrome and a defect at the COL11A1 locus. (9792885)
1998
14
The Marshall syndrome: report of a new family and review of the literature. (9129742)
1997
15
Marshall syndrome. (1951461)
1991
16
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. (4014313)
1985
17
Extreme upper airway obstruction with the Marshall syndrome. (6211325)
1982
18
Marshall syndrome: a condition resembling congenital syphilis. (7214117)
1981
19
Generalized osseous abnormalities in the Marshall syndrome. (953235)
1976
20
Letter: Marshall syndrome: eulogy or resurrection? (1133671)
1975
21
Letter: The demise of the Marshall syndrome. (4420090)
1974
22
The Marshall syndrome: report of a new family. (4826625)
1974

Variations for Marshall Syndrome

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Clinvar genetic disease variations for Marshall Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1COL11A1COL11A1, 54-BP DELdeletionPathogenic
2COL11A1COL11A1, 4-BP DEL, EX50/IVS50deletionPathogenic
3COL11A1COL11A1, 1-BP INS, 3816TinsertionPathogenic
4COL11A1NM_080629.2(COL11A1): c.3852+1G> Asingle nucleotide variantPathogenicrs398122828GRCh37Chr 1, 103381186: 103381186

Expression for genes affiliated with Marshall Syndrome

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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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Compounds for genes affiliated with Marshall Syndrome

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Sources:
44Novoseek
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Compounds related to Marshall Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oligonucleotide449.1COL2A1, COL11A1

GO Terms for genes affiliated with Marshall Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet