MRSHS
MCID: MRS002
MIFTS: 47

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 57 75 53 59 74 37 29 13 6 40 72
Mrshs 57 74
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type 53

Characteristics:

Orphanet epidemiological data:

59
marshall syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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:

32
marshall syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 154780
KEGG 37 H02081
MESH via Orphanet 45 C536025
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C0265235
Orphanet 59 ORPHA560
MedGen 42 C0265235
UMLS 72 C0265235

Summaries for Marshall Syndrome

UniProtKB/Swiss-Prot : 74 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. Affiliated tissues include eye, bone and skin, and related phenotypes are malar flattening and hypertelorism

NIH Rare Diseases : 53 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 : 37
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 : 75 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 all 49)
# Related Disease Score Top Affiliating Genes
1 stickler syndrome 32.2 COL2A1 COL11A1
2 myopia 29.3 COL2A1 COL11A1
3 sensorineural hearing loss 29.0 COL2A1 COL11A1
4 cleft palate, isolated 28.9 COL2A1 COL11A1
5 periodic fever, aphthous stomatitis, pharyngitis and adenitis 11.8
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
7 stickler syndrome, type i 10.1
8 cataract 10.1
9 familial mediterranean fever 10.0
10 stickler syndrome, type ii 10.0
11 ectodermal dysplasia 10.0
12 pharyngitis 10.0
13 stomatitis 10.0
14 coloboma of macula 9.8
15 hypertelorism 9.8
16 cyclic neutropenia 9.8
17 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.8
18 hyper-igd syndrome 9.8
19 branchiootic syndrome 1 9.8
20 intraocular pressure quantitative trait locus 9.8
21 isolated ectopia lentis 9.8
22 tonsillitis 9.8
23 neutropenia 9.8
24 neuritis 9.8
25 cutis laxa 9.8
26 arthropathy 9.8
27 syphilis 9.8
28 juvenile rheumatoid arthritis 9.8
29 aphthous stomatitis 9.8
30 congenital syphilis 9.8
31 collagenopathy type 2 alpha 1 9.8
32 isolated pierre robin sequence 9.8
33 dysphagia 9.8
34 submucosal cleft palate 9.8
35 acquired cutis laxa 9.8
36 retinal perforation 9.8 COL2A1 COL11A1
37 otospondylomegaepiphyseal dysplasia 9.8 COL2A1 COL11A1
38 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.8 COL2A1 COL11A1
39 vitreous syneresis 9.8 COL2A1 COL11A1
40 vitreoretinal dystrophy 9.7 COL2A1 COL11A1
41 macroglossia 9.7 COL2A1 COL11A1
42 vitreoretinal degeneration 9.7 COL2A1 COL11A1
43 achondrogenesis, type ii 9.7 COL2A1 COL11A1
44 hypochondrogenesis 9.7 COL2A1 COL11A1
45 kniest dysplasia 9.7 COL2A1 COL11A1
46 donnai-barrow syndrome 9.6 COL2A1 COL11A1
47 spondyloepiphyseal dysplasia congenita 9.6 COL2A1 COL11A1
48 retinal detachment 9.6 COL2A1 COL11A1
49 strabismus 9.5 COL2A1 COL11A1

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:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
6 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
7 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
12 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
13 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
14 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
15 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
16 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
17 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
18 thick upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000215
19 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
20 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
21 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
22 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
23 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
24 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
25 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
26 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
27 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
28 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
29 ectopia lentis 59 32 frequent (33%) Frequent (79-30%) HP:0001083
30 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
31 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
32 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
33 hypoplastic frontal sinuses 59 32 frequent (33%) Frequent (79-30%) HP:0002738
34 vitreoretinopathy 32 frequent (33%) HP:0007773
35 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
36 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
37 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
38 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
39 sparse eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000653
40 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535
41 low-set ears 32 HP:0000369
42 visual impairment 59 Frequent (79-30%)
43 platyspondyly 32 HP:0000926
44 coxa valga 32 HP:0002673
45 epicanthus 32 HP:0000286
46 irregular proximal tibial epiphyses 32 HP:0006456
47 cheekbone underdevelopment 59 Very frequent (99-80%)
48 lens luxation 32 HP:0012019
49 midface retrusion 32 HP:0011800
50 abnormality of the vitreous humor 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
myopia
glaucoma
retinal detachment
vitreoretinal degeneration
more
Head And Neck Nose:
anteverted nares
flat nasal bridge
short, depressed nose

Head And Neck Mouth:
cleft palate
thick lips
robin sequence

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

Growth Height:
short stature

Head And Neck Face:
long philtrum
micrognathia
flat midface

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Life Quality Study for PFAPA Patient Unknown status NCT02811705

Search NIH Clinical Center for Marshall Syndrome

Genetic Tests for Marshall Syndrome

Genetic tests related to Marshall Syndrome:

# Genetic test Affiliating Genes
1 Marshall Syndrome 29 COL11A1

Anatomical Context for Marshall Syndrome

MalaCards organs/tissues related to Marshall Syndrome:

41
Eye, Bone, Skin, Lymph Node

Publications for Marshall Syndrome

Articles related to Marshall Syndrome:

(show top 50) (show all 57)
# 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. 38 8 71
17236192 2007
2
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 38 8 71
10486316 1999
3
Marshall syndrome and a defect at the COL11A1 locus. 38 8 71
9792885 1998
4
Marshall syndrome associated with a splicing defect at the COL11A1 locus. 38 8 71
9529347 1998
5
The Marshall syndrome: report of a new family and review of the literature. 38 8 71
9129742 1997
6
Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. 8 71
13520885 1958
7
Mosaicism in Marshall syndrome. 38 8
19449424 2009
8
Marshall syndrome. 38 8
1951461 1991
9
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. 38 8
6650564 1983
10
Generalized osseous abnormalities in the Marshall syndrome. 38 8
953235 1976
11
Letter: Marshall syndrome: eulogy or resurrection? 38 8
1133671 1975
12
Letter: The demise of the Marshall syndrome. 38 8
4420090 1974
13
The Marshall syndrome: report of a new family. 38 8
4826625 1974
14
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. 8
3812580 1987
15
The Marshall and Stickler syndromes: objective rejection of lumping. 8
6694183 1984
16
Marshall/Stickler syndrome. 8
7077624 1982
17
Hereditary hearing loss with saddle-nose and myopia. 8
5422347 1970
18
Inherited retinal detachment. 8
14026621 1963
19
Audiologic Manifestations of Marshall Syndrome. 38
30020262 2018
20
Marshall and stickler syndrome in one family. 38
30650974 2018
21
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. 38
28841907 2017
22
Marshall syndrome in a young child, a reality: Case report. 38
27858841 2016
23
[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family]. 38
26367406 2015
24
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. 38
25073711 2014
25
PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience. 38
25793047 2014
26
Syndromic versus nonsyndromic atlantoaxial dislocation: do clinico-radiological differences have a bearing on management? 38
23645321 2013
27
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). 38
23621912 2013
28
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. 38
22499343 2012
29
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis. 38
21980822 2011
30
Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report. 38
20199420 2010
31
Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity. 38
19638309 2009
32
Vitreous veils and radial lattice in Marshall syndrome. 38
19005991 2008
33
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. 38
18950500 2008
34
Prenatal diagnosis of marshall syndrome by targeted sonography. 38
16301732 2005
35
Marshall syndrome. 38
15767717 2005
36
[Recurring episodes of fever with oral aphthae, lymph node swelling and joint symptoms in a 9-year-old boy. Diagnosis: PFAPA syndrome (Marshall syndrome)]. 38
14634753 2003
37
Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice. 38
12527136 2003
38
Spontaneous rupture of the lens capsule in a case of Marshall syndrome. 38
12353903 2002
39
[Alpha-1-antitrypsin deficiency. Role in skin disorders]. 38
12669363 2002
40
Auditory dysfunction in Stickler syndrome. 38
11556853 2001
41
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation]. 38
11481990 2001
42
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. 38
10889003 2000
43
[Marshall syndrome: results of a retrospective national survey]. 38
10941483 2000
44
[Marshall syndrome]. 38
11057199 2000
45
Gene symbol: COL11A1. Disease: Marshall syndrome. 38
9600252 1998
46
[Periodic fever in the child. Survey of Marshall syndrome. Pediatric Infectious Disease Pathology Group]. 38
9759259 1998
47
[A case of Marshall syndrome with secondary glaucoma due to spontaneous rupture of the lens capsule]. 38
9489375 1998
48
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. 38
9188673 1997
49
[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome]. 38
9235398 1997
50
[Marshall syndrome--case report]. 38
7637309 1995

Variations for Marshall Syndrome

ClinVar genetic disease variations for Marshall Syndrome:

6 (show top 50) (show all 123)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL11A1 COL11A1, 4-BP DEL, EX50/IVS50 deletion Pathogenic
2 COL11A1 COL11A1, 1-BP INS, 3816T insertion Pathogenic
3 COL11A1 NM_080629.2(COL11A1): c.3852+1G> A single nucleotide variant Pathogenic rs398122828 1:103381186-103381186 1:102915630-102915630
4 COL11A1 NM_080629.2(COL11A1): c.4583G> T (p.Gly1528Val) single nucleotide variant Pathogenic/Likely pathogenic rs1553193910 1:103354286-103354286 1:102888730-102888730
5 COL11A1 NM_080629.2(COL11A1): c.215C> G (p.Thr72Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56230601 1:103548420-103548420 1:103082864-103082864
6 COL11A1 NM_080629.2(COL11A1): c.4068G> A (p.Pro1356=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 1:103379193-103379193 1:102913637-102913637
7 COL11A1 NM_001854.3(COL11A1): c.1792-12_1792-10dupATG duplication Conflicting interpretations of pathogenicity rs71752747 1:103471457-103471459 1:103005901-103005903
8 COL11A1 NM_080629.2(COL11A1): c.2957C> A (p.Pro986Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78046647 1:103428312-103428312 1:102962756-102962756
9 COL11A1 NM_001854.3(COL11A1): c.652-6dupT duplication Conflicting interpretations of pathogenicity rs36076089 1:103496806-103496806 1:103031250-103031250
10 COL11A1 NM_080629.2(COL11A1): c.3847G> T (p.Val1283Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150669855 1:103381192-103381192 1:102915636-102915636
11 COL11A1 NM_080629.2(COL11A1): c.4093G> A (p.Ala1365Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151249006 1:103377744-103377744 1:102912188-102912188
12 COL11A1 NM_080629.2(COL11A1): c.5234G> A (p.Arg1745His) single nucleotide variant Conflicting interpretations of pathogenicity rs140250347 1:103345315-103345315 1:102879759-102879759
13 COL11A1 NM_080629.2(COL11A1): c.1057G> C (p.Glu353Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144884147 1:103488522-103488522 1:103022966-103022966
14 COL11A1 NM_080629.2(COL11A1): c.5309C> T (p.Ala1770Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202065765 1:103345240-103345240 1:102879684-102879684
15 COL11A1 NM_080629.2(COL11A1): c.2358G> A (p.Lys786=) single nucleotide variant Conflicting interpretations of pathogenicity rs140608161 1:103461438-103461438 1:102995882-102995882
16 COL11A1 NM_080629.2(COL11A1): c.3675G> A (p.Gly1225=) single nucleotide variant Conflicting interpretations of pathogenicity rs143651470 1:103388907-103388907 1:102923351-102923351
17 COL11A1 NM_080629.2(COL11A1): c.3853-25_3853-24dup duplication Conflicting interpretations of pathogenicity rs34228277 1:103380380-103380381 1:102914824-102914825
18 COL11A1 NM_080629.2(COL11A1): c.3333G> C (p.Gly1111=) single nucleotide variant Conflicting interpretations of pathogenicity rs768553239 1:103405970-103405970 1:102940414-102940414
19 COL11A1 NM_080629.2(COL11A1): c.328G> C (p.Gly110Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141978499 1:103544374-103544374 1:103078818-103078818
20 COL11A1 NM_080629.2(COL11A1): c.1463G> A (p.Arg488His) single nucleotide variant Conflicting interpretations of pathogenicity rs149558726 1:103481285-103481285 1:103015729-103015729
21 COL11A1 NM_080629.2(COL11A1): c.*715A> G single nucleotide variant Uncertain significance rs886044971 1:103342860-103342860 1:102877304-102877304
22 COL11A1 NM_080629.2(COL11A1): c.1932G> A (p.Met644Ile) single nucleotide variant Uncertain significance rs199835797 1:103470167-103470167 1:103004611-103004611
23 COL11A1 NM_001854.3(COL11A1): c.1792-15_1792-10dupATGATG duplication Uncertain significance rs71752747 1:103471457-103471462 1:103005901-103005906
24 COL11A1 NM_080629.2(COL11A1): c.318A> G (p.Lys106=) single nucleotide variant Uncertain significance rs150668398 1:103544384-103544384 1:103078828-103078828
25 COL11A1 NM_080629.2(COL11A1): c.781-333A> G single nucleotide variant Uncertain significance rs764926559 1:103491841-103491841 1:103026285-103026285
26 COL11A1 NM_080629.2(COL11A1): c.4755G> A (p.Ser1585=) single nucleotide variant Uncertain significance rs3753842 1:103352502-103352502 1:102886946-102886946
27 COL11A1 NM_080629.2(COL11A1): c.4663A> C (p.Ile1555Leu) single nucleotide variant Uncertain significance rs558548172 1:103352594-103352594 1:102887038-102887038
28 COL11A1 NM_080629.2(COL11A1): c.2179-15T> C single nucleotide variant Uncertain significance rs886044979 1:103463934-103463934 1:102998378-102998378
29 COL11A1 NM_080629.2(COL11A1): c.107-12C> T single nucleotide variant Uncertain significance rs200564243 1:103548540-103548540 1:103082984-103082984
30 COL11A1 NM_080629.2(COL11A1): c.1985C> G (p.Pro662Arg) single nucleotide variant Uncertain significance rs199875795 1:103468820-103468820 1:103003264-103003264
31 COL11A1 NM_080629.2(COL11A1): c.962A> T (p.Tyr321Phe) single nucleotide variant Uncertain significance rs766508371 1:103491141-103491141 1:103025585-103025585
32 COL11A1 NM_080629.2(COL11A1): c.628A> G (p.Ile210Val) single nucleotide variant Uncertain significance rs779282500 1:103540197-103540197 1:103074641-103074641
33 COL11A1 NM_080629.2(COL11A1): c.35G> C (p.Arg12Pro) single nucleotide variant Uncertain significance rs767496065 1:103573700-103573700 1:103108144-103108144
34 COL11A1 NM_080629.2(COL11A1): c.3824C> T (p.Pro1275Leu) single nucleotide variant Uncertain significance rs767905237 1:103381215-103381215 1:102915659-102915659
35 COL11A1 NM_080629.2(COL11A1): c.3265C> A (p.Pro1089Thr) single nucleotide variant Uncertain significance rs144562769 1:103412452-103412452 1:102946896-102946896
36 COL11A1 NM_080629.2(COL11A1): c.-198_-195del deletion Uncertain significance rs886044981 1:103573929-103573932 1:103108373-103108376
37 COL11A1 NM_080629.2(COL11A1): c.1525-5C> A single nucleotide variant Uncertain significance rs370997745 1:103480155-103480155 1:103014599-103014599
38 COL11A1 NM_080629.2(COL11A1): c.-220T> C single nucleotide variant Uncertain significance rs886044982 1:103573954-103573954 1:103108398-103108398
39 COL11A1 NM_080629.2(COL11A1): c.-231dup duplication Uncertain significance rs886044983 1:103573965-103573965 1:103108409-103108409
40 COL11A1 NM_001854.3(COL11A1): c.652-7_652-6dupTT duplication Uncertain significance rs36076089 1:103496806-103496807 1:103031250-103031251
41 COL11A1 NM_080629.2(COL11A1): c.-75C> T single nucleotide variant Uncertain significance rs886044980 1:103573809-103573809 1:103108253-103108253
42 COL11A1 NM_080629.2(COL11A1): c.-258C> A single nucleotide variant Uncertain significance rs886044984 1:103573992-103573992 1:103108436-103108436
43 COL11A1 NM_080629.2(COL11A1): c.3394G> A (p.Gly1132Ser) single nucleotide variant Uncertain significance rs370589018 1:103405909-103405909 1:102940353-102940353
44 COL11A1 NM_080629.2(COL11A1): c.4764G> T (p.Met1588Ile) single nucleotide variant Uncertain significance rs886044974 1:103352493-103352493 1:102886937-102886937
45 COL11A1 NM_080629.2(COL11A1): c.4630C> G (p.Pro1544Ala) single nucleotide variant Uncertain significance rs140954784 1:103354147-103354147 1:102888591-102888591
46 COL11A1 NM_001854.3(COL11A1): c.4303-13dupT duplication Uncertain significance rs35232764 1:103356073-103356073 1:102890517-102890517
47 COL11A1 NM_080629.2(COL11A1): c.4258G> A (p.Gly1420Ser) single nucleotide variant Uncertain significance rs200496207 1:103364248-103364248 1:102898692-102898692
48 COL11A1 NM_080629.2(COL11A1): c.4942A> G (p.Lys1648Glu) single nucleotide variant Uncertain significance rs886044973 1:103348820-103348820 1:102883264-102883264
49 COL11A1 NM_001854.3(COL11A1): c.4357-16dupT duplication Uncertain significance rs748850423 1:103355134-103355134 1:102889578-102889578
50 COL11A1 NM_080629.2(COL11A1): c.3509T> C (p.Val1170Ala) single nucleotide variant Uncertain significance rs375675171 1:103400635-103400635 1:102935079-102935079

Expression for Marshall Syndrome

Search GEO for disease gene expression data for Marshall Syndrome.

Pathways for Marshall Syndrome

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 extracellular matrix GO:0031012 9.26 COL2A1 COL11A1
2 endoplasmic reticulum lumen GO:0005788 9.16 COL2A1 COL11A1
3 collagen-containing extracellular matrix GO:0062023 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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