MRSHS
MCID: MRS002
MIFTS: 52

Marshall Syndrome (MRSHS)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Marshall Syndrome

MalaCards integrated aliases for Marshall Syndrome:

Name: Marshall Syndrome 56 12 74 52 52 58 73 36 29 13 6 43 39 71
Mrshs 56 12 73
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type 12 52
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 58
Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 52
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy 29
Marshall Syndrome with Periodic Fever 58
Pfapa Syndrome 58
Pfapa 52

Characteristics:

Orphanet epidemiological data:

58
marshall syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
pfapa syndrome
Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
stickler syndrome and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss
marshall syndrome is allelic to stickler syndrome, type 2


HPO:

31
marshall syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Marshall Syndrome

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 myopia. An important gene associated with Marshall Syndrome is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are Focal Adhesion and Collagen chain trimerization. The drugs Givinostat hydrochloride and Histone Deacetylase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related phenotypes are malar flattening and hypertelorism

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.

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...

More information from OMIM: 154780

Related Diseases for Marshall Syndrome

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 stickler syndrome 32.2 COL2A1 COL11A1
2 myopia 29.5 COL2A1 COL11A1
3 sensorineural hearing loss 29.3 COL2A1 COL11A1
4 cleft palate, isolated 29.0 COL2A1 COL11A1
5 cataract 28.9 COL2A1 COL11A1
6 cervical adenitis 10.7
7 lymphadenitis 10.5
8 periodic fever, familial, autosomal dominant 10.4
9 hepatitis a 10.4
10 oral candidiasis 10.4
11 iga glomerulonephritis 10.4
12 lymphopenia 10.4
13 conjunctivitis 10.4
14 splenomegaly 10.4
15 autoinflammatory syndrome 10.4
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
17 autoimmune disease 10.1
18 mevalonic aciduria 10.1
19 exanthem 10.1
20 rickets 10.1
21 measles 10.1
22 sutton disease 2 10.1
23 hereditary periodic fever syndrome 10.1
24 stickler syndrome, type i 10.1
25 familial mediterranean fever 10.0
26 stickler syndrome, type ii 10.0
27 ectodermal dysplasia 10.0
28 pharyngitis 10.0
29 cutis laxa 10.0
30 stomatitis 10.0
31 acquired cutis laxa 10.0
32 vasculitis, lymphocytic, nodular 10.0
33 fanconi anemia, complementation group a 10.0
34 kawasaki disease 10.0
35 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
36 sleep apnea 10.0
37 mumps 10.0
38 bacterial infectious disease 10.0
39 pertussis 10.0
40 visual epilepsy 10.0
41 autoimmune hepatitis 10.0
42 intestinal perforation 10.0
43 glomerulonephritis 10.0
44 rhinitis 10.0
45 proliferative glomerulonephritis 10.0
46 herpes simplex 10.0
47 vasculitis 10.0
48 chickenpox 10.0
49 bacterial pneumonia 10.0
50 crohn's disease 10.0

Graphical network of the top 20 diseases related to Marshall Syndrome:



Diseases related to Marshall Syndrome

Symptoms & Phenotypes for Marshall Syndrome

Human phenotypes related to Marshall Syndrome:

58 31 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 encephalitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002383
4 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
7 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
8 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
10 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
12 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
13 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
14 arthralgia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002829
15 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
16 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
17 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
18 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
19 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
20 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
21 abnormality of temperature regulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004370
22 migraine 58 31 hallmark (90%) Very frequent (99-80%) HP:0002076
23 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
24 recurrent pharyngitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100776
25 thick upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000215
26 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
27 abnormal oral cavity morphology 31 hallmark (90%) HP:0000163
28 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
29 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
30 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
31 thickened calvaria 58 31 frequent (33%) Frequent (79-30%) HP:0002684
32 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
33 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
34 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
35 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
36 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
37 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
38 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
39 ectopia lentis 58 31 frequent (33%) Frequent (79-30%) HP:0001083
40 hypotrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0001006
41 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
42 hypoplastic frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0002738
43 vitreoretinopathy 31 frequent (33%) HP:0007773
44 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
45 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
46 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
47 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
48 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
49 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
50 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
myopia
glaucoma
retinal detachment
vitreoretinal degeneration
more
Growth Height:
short stature

Head And Neck Nose:
anteverted nares
flat nasal bridge
short, depressed nose

Skeletal Pelvis:
coxa valga
small iliac bones

Skeletal Hands:
wide tufts of distal phalanges

Skeletal Spine:
mild platyspondyly

Head And Neck Ears:
low-set ears
sensorineural hearing loss

Head And Neck Face:
micrognathia
long philtrum
flat midface

Head And Neck Mouth:
cleft palate
thick lips
robin sequence

Skeletal Skull:
absent frontal sinuses
calvarial thickening
falx, tentorial, and meningeal calcifications

Head And Neck Teeth:
prominent, protruding upper incisors

Skeletal Limbs:
small, irregular distal femoral epiphyses
small, irregular proximal tibial epiphyses
outward radial bowing
outward ulnar bowing

Clinical features from OMIM:

154780

Drugs & Therapeutics for Marshall Syndrome

Drugs for Marshall Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Givinostat hydrochloride Phase 2
2 Histone Deacetylase Inhibitors Phase 2
3 Antibodies, Monoclonal Phase 1
4 Immunologic Factors Phase 1
5 Antibodies Phase 1
6 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects and Side Effects of ITS2357 in Autoinflammatory Syndromes Unknown status NCT00442182 Phase 2 ITF2357
2 Effects of Probiotic Addition to Corticosteroid Treatment for PFAPA Withdrawn NCT02535962 Phase 2
3 Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Recruiting NCT02775994 Phase 1 Canakinumab
4 Life Quality Study for PFAPA Patient Unknown status NCT02811705
5 Tonsillotomy or Follow-up in PFAPA -Syndrome - Randomised, Controlled Study Using Sequential Design Recruiting NCT03331497
6 Creation of a Tool to Assess Quality of Life in Patient With Auto-inflammatory Diseases Active, not recruiting NCT03569644

Search NIH Clinical Center for Marshall Syndrome

Cochrane evidence based reviews: marshall syndrome

Genetic Tests for Marshall Syndrome

Genetic tests related to Marshall Syndrome:

# Genetic test Affiliating Genes
1 Marshall Syndrome 29 COL11A1
2 Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy 29

Anatomical Context for Marshall Syndrome

MalaCards organs/tissues related to Marshall Syndrome:

40
Eye, Bone, Skin, Lymph Node, Tonsil, Neutrophil

Publications for Marshall Syndrome

Articles related to Marshall Syndrome:

(show top 50) (show all 58)
# Title Authors PMID Year
1
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. 61 56 6
17236192 2007
2
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 61 56 6
10486316 1999
3
Marshall syndrome and a defect at the COL11A1 locus. 61 56 6
9792885 1998
4
Marshall syndrome associated with a splicing defect at the COL11A1 locus. 61 56 6
9529347 1998
5
The Marshall syndrome: report of a new family and review of the literature. 61 56 6
9129742 1997
6
Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. 56 6
13520885 1958
7
Mosaicism in Marshall syndrome. 61 56
19449424 2009
8
Marshall syndrome. 61 56
1951461 1991
9
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. 61 56
6650564 1983
10
Generalized osseous abnormalities in the Marshall syndrome. 61 56
953235 1976
11
Letter: Marshall syndrome: eulogy or resurrection? 61 56
1133671 1975
12
Letter: The demise of the Marshall syndrome. 61 56
4420090 1974
13
The Marshall syndrome: report of a new family. 61 56
4826625 1974
14
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. 56
3812580 1987
15
The Marshall and Stickler syndromes: objective rejection of lumping. 56
6694183 1984
16
Marshall/Stickler syndrome. 56
7077624 1982
17
Hereditary hearing loss with saddle-nose and myopia. 56
5422347 1970
18
Inherited retinal detachment. 56
14026621 1963
19
Acquired cutis laxa secondary to Sweet syndrome in a child (Marshall syndrome): A rare case report. 61
31437319 2020
20
Audiologic Manifestations of Marshall Syndrome. 61
30020262 2018
21
Marshall and stickler syndrome in one family. 61
30650974 2018
22
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. 61
28841907 2017
23
Marshall syndrome in a young child, a reality: Case report. 61
27858841 2016
24
[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family]. 61
26367406 2015
25
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. 61
25073711 2014
26
PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience. 61
25793047 2014
27
Syndromic versus nonsyndromic atlantoaxial dislocation: do clinico-radiological differences have a bearing on management? 61
23645321 2013
28
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). 61
23621912 2013
29
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. 61
22499343 2012
30
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis. 61
21980822 2011
31
Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report. 61
20199420 2010
32
Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity. 61
19638309 2009
33
Vitreous veils and radial lattice in Marshall syndrome. 61
19005991 2008
34
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. 61
18950500 2008
35
Prenatal diagnosis of marshall syndrome by targeted sonography. 61
16301732 2005
36
Marshall syndrome. 61
15767717 2005
37
[Recurring episodes of fever with oral aphthae, lymph node swelling and joint symptoms in a 9-year-old boy. Diagnosis: PFAPA syndrome (Marshall syndrome)]. 61
14634753 2003
38
Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice. 61
12527136 2003
39
Spontaneous rupture of the lens capsule in a case of Marshall syndrome. 61
12353903 2002
40
[Alpha-1-antitrypsin deficiency. Role in skin disorders]. 61
12669363 2002
41
Auditory dysfunction in Stickler syndrome. 61
11556853 2001
42
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation]. 61
11481990 2001
43
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. 61
10889003 2000
44
[Marshall syndrome: results of a retrospective national survey]. 61
10941483 2000
45
[Marshall syndrome]. 61
11057199 2000
46
Gene symbol: COL11A1. Disease: Marshall syndrome. 61
9600252 1998
47
[Periodic fever in the child. Survey of Marshall syndrome. Pediatric Infectious Disease Pathology Group]. 61
9759259 1998
48
[A case of Marshall syndrome with secondary glaucoma due to spontaneous rupture of the lens capsule]. 61
9489375 1998
49
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. 61
9188673 1997
50
[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome]. 61
9235398 1997

Variations for Marshall Syndrome

ClinVar genetic disease variations for Marshall Syndrome:

6 (show top 50) (show all 124) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A1 COL11A1, 4-BP DEL, EX50/IVS50deletion Pathogenic 17134
2 COL11A1 COL11A1, 1-BP INS, 3816Tinsertion Pathogenic 17136
3 COL11A1 NM_001854.4(COL11A1):c.3816+1G>ASNV Pathogenic 39776 rs398122828 1:103381186-103381186 1:102915630-102915630
4 COL11A1 NM_001854.4(COL11A1):c.3816+5G>ASNV Pathogenic/Likely pathogenic 391809 rs1057524237 1:103381182-103381182 1:102915626-102915626
5 COL11A1 NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)SNV Pathogenic/Likely pathogenic 498797 rs1553193910 1:103354286-103354286 1:102888730-102888730
6 COL11A1 NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=)SNV Conflicting interpretations of pathogenicity 291518 rs768553239 1:103405970-103405970 1:102940414-102940414
7 COL11A1 NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)SNV Conflicting interpretations of pathogenicity 291548 rs141978499 1:103544374-103544374 1:103078818-103078818
8 COL11A1 NM_001854.4(COL11A1):c.318A>G (p.Lys106=)SNV Conflicting interpretations of pathogenicity 291549 rs150668398 1:103544384-103544384 1:103078828-103078828
9 COL11A1 NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile)SNV Conflicting interpretations of pathogenicity 291529 rs199835797 1:103470167-103470167 1:103004611-103004611
10 COL11A1 NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)SNV Conflicting interpretations of pathogenicity 291535 rs149558726 1:103481285-103481285 1:103015729-103015729
11 COL11A1 NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)SNV Conflicting interpretations of pathogenicity 93968 rs56230601 1:103548420-103548420 1:103082864-103082864
12 COL11A1 NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)SNV Conflicting interpretations of pathogenicity 284750 rs202065765 1:103345240-103345240 1:102879684-102879684
13 COL11A1 NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)SNV Conflicting interpretations of pathogenicity 289407 rs140608161 1:103461438-103461438 1:102995882-102995882
14 COL11A1 NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)SNV Conflicting interpretations of pathogenicity 289661 rs143651470 1:103388907-103388907 1:102923351-102923351
15 COL11A1 NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)SNV Conflicting interpretations of pathogenicity 198360 rs140250347 1:103345315-103345315 1:102879759-102879759
16 COL11A1 NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)SNV Conflicting interpretations of pathogenicity 198777 rs144884147 1:103488522-103488522 1:103022966-103022966
17 COL11A1 NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)SNV Conflicting interpretations of pathogenicity 197066 rs78046647 1:103428312-103428312 1:102962756-102962756
18 COL11A1 NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)SNV Conflicting interpretations of pathogenicity 198019 rs55821405 1:103355059-103355059 1:102889503-102889503
19 COL11A1 NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)SNV Conflicting interpretations of pathogenicity 166922 rs147637674 1:103379193-103379193 1:102913637-102913637
20 COL11A1 NM_001854.4(COL11A1):c.1792-39ATG[11]short repeat Conflicting interpretations of pathogenicity 166924 rs71752747 1:103471456-103471457 1:103005900-103005901
21 COL11A1 NM_001854.4(COL11A1):c.652-18dupduplication Conflicting interpretations of pathogenicity 197736 rs36076089 1:103496805-103496806 1:103031249-103031250
22 COL11A1 NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)SNV Conflicting interpretations of pathogenicity 197911 rs150669855 1:103381192-103381192 1:102915636-102915636
23 COL11A1 NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)SNV Conflicting interpretations of pathogenicity 197964 rs151249006 1:103377744-103377744 1:102912188-102912188
24 COL11A1 NM_001854.4(COL11A1):c.3817-25_3817-24dupduplication Conflicting interpretations of pathogenicity 291508 rs34228277 1:103380379-103380380 1:102914823-102914824
25 COL11A1 NM_001854.4(COL11A1):c.4906A>G (p.Lys1636Glu)SNV Uncertain significance 291494 rs886044973 1:103348820-103348820 1:102883264-102883264
26 COL11A1 NM_001854.4(COL11A1):c.4357-23dupduplication Uncertain significance 291502 rs748850423 1:103355133-103355134 1:102889577-102889578
27 COL11A1 NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala)SNV Uncertain significance 291515 rs375675171 1:103400635-103400635 1:102935079-102935079
28 COL11A1 NM_001854.4(COL11A1):c.2655+3A>GSNV Uncertain significance 291524 rs886044978 1:103444613-103444613 1:102979057-102979057
29 COL11A1 NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile)SNV Uncertain significance 291496 rs886044974 1:103352493-103352493 1:102886937-102886937
30 COL11A1 NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)SNV Uncertain significance 291499 rs140954784 1:103354147-103354147 1:102888591-102888591
31 COL11A1 NM_001854.4(COL11A1):c.4303-22dupduplication Uncertain significance 291503 rs35232764 1:103356072-103356073 1:102890516-102890517
32 COL11A1 NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)SNV Uncertain significance 291505 rs200496207 1:103364248-103364248 1:102898692-102898692
33 COL11A1 NM_001854.4(COL11A1):c.*628dupduplication Uncertain significance 291485 rs532806397 1:103342946-103342947 1:102877390-102877391
34 COL11A1 NM_001854.4(COL11A1):c.*1488G>CSNV Uncertain significance 291473 rs886044968 1:103342087-103342087 1:102876531-102876531
35 COL11A1 NM_001854.4(COL11A1):c.*1239T>CSNV Uncertain significance 291474 rs886044969 1:103342336-103342336 1:102876780-102876780
36 COL11A1 NM_001854.4(COL11A1):c.*953G>CSNV Uncertain significance 291480 rs886044970 1:103342622-103342622 1:102877066-102877066
37 COL11A1 NM_001854.4(COL11A1):c.*240A>GSNV Uncertain significance 291489 rs886044972 1:103343335-103343335 1:102877779-102877779
38 COL11A1 NM_001854.4(COL11A1):c.926A>T (p.Tyr309Phe)SNV Uncertain significance 291539 rs766508371 1:103491141-103491141 1:103025585-103025585
39 COL11A1 NM_001854.4(COL11A1):c.628A>G (p.Ile210Val)SNV Uncertain significance 291546 rs779282500 1:103540197-103540197 1:103074641-103074641
40 COL11A1 NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro)SNV Uncertain significance 291553 rs767496065 1:103573700-103573700 1:103108144-103108144
41 COL11A1 NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)SNV Uncertain significance 291512 rs767905237 1:103381215-103381215 1:102915659-102915659
42 COL11A1 NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)SNV Uncertain significance 291519 rs144562769 1:103412452-103412452 1:102946896-102946896
43 COL11A1 NM_001854.4(COL11A1):c.-198_-195deldeletion Uncertain significance 291558 rs886044981 1:103573929-103573932 1:103108373-103108376
44 COL11A1 NM_001854.4(COL11A1):c.1489-5C>ASNV Uncertain significance 291534 rs370997745 1:103480155-103480155 1:103014599-103014599
45 COL11A1 NM_001854.4(COL11A1):c.-220T>CSNV Uncertain significance 291559 rs886044982 1:103573954-103573954 1:103108398-103108398
46 COL11A1 NM_001854.4(COL11A1):c.-231dupduplication Uncertain significance 291560 rs886044983 1:103573964-103573965 1:103108408-103108409
47 COL11A1 NM_001854.4(COL11A1):c.1792-39ATG[12]short repeat Uncertain significance 291530 rs71752747 1:103471456-103471457 1:103005900-103005901
48 COL11A1 NM_001854.4(COL11A1):c.2143-15T>CSNV Uncertain significance 291525 rs886044979 1:103463934-103463934 1:102998378-102998378
49 COL11A1 NM_001854.4(COL11A1):c.107-12C>TSNV Uncertain significance 291551 rs200564243 1:103548540-103548540 1:103082984-103082984
50 COL11A1 NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg)SNV Uncertain significance 291527 rs199875795 1:103468820-103468820 1:103003264-103003264

Expression for Marshall Syndrome

Search GEO for disease gene expression data for Marshall Syndrome.

Pathways for Marshall Syndrome

Pathways related to Marshall Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 COL2A1 COL11A1
2
Show member pathways
11.68 COL2A1 COL11A1
3
Show member pathways
11.28 COL2A1 COL11A1
4 10.06 COL2A1 COL11A1

GO Terms for Marshall Syndrome

Cellular components related to Marshall Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.26 COL2A1 COL11A1
2 endoplasmic reticulum lumen GO:0005788 9.16 COL2A1 COL11A1
3 extracellular matrix GO:0031012 8.96 COL2A1 COL11A1
4 collagen trimer GO:0005581 8.62 COL2A1 COL11A1

Biological processes related to Marshall Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.49 COL2A1 COL11A1
2 visual perception GO:0007601 9.48 COL2A1 COL11A1
3 sensory perception of sound GO:0007605 9.46 COL2A1 COL11A1
4 ossification GO:0001503 9.43 COL2A1 COL11A1
5 cartilage development GO:0051216 9.4 COL2A1 COL11A1
6 inner ear morphogenesis GO:0042472 9.37 COL2A1 COL11A1
7 heart morphogenesis GO:0003007 9.32 COL2A1 COL11A1
8 collagen fibril organization GO:0030199 9.26 COL2A1 COL11A1
9 skeletal system morphogenesis GO:0048705 9.16 COL2A1 COL11A1
10 cartilage condensation GO:0001502 8.96 COL2A1 COL11A1
11 proteoglycan metabolic process GO:0006029 8.62 COL2A1 COL11A1

Molecular functions related to Marshall Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL2A1 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL2A1 COL11A1

Sources for Marshall Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....