MCID: MRS002
MIFTS: 45

Marshall Syndrome

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

Aliases & Classifications for Marshall Syndrome

MalaCards integrated aliases for Marshall Syndrome:

Name: Marshall Syndrome 53 72 49 55 71 28 13 69
Mrshs 53 71
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type 49

Characteristics:

Orphanet epidemiological data:

55
marshall syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
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:



Summaries for Marshall Syndrome

UniProtKB/Swiss-Prot : 71 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 periodic fever, aphthous stomatitis, pharyngitis and adenitis and retinal perforation, and has symptoms including arthralgia, malar flattening and hypertelorism. 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.

NIH Rare Diseases : 49 Marshall syndromeis 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

Wikipedia : 72 Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized... more...

Description from OMIM: 154780

Related Diseases for Marshall Syndrome

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



Diseases related to Marshall Syndrome

Symptoms & Phenotypes for Marshall Syndrome

Symptoms via clinical synopsis from OMIM:

53
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

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

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

Skeletal Spine:
mild platyspondyly

Skeletal Hands:
wide tufts of distal phalanges


Clinical features from OMIM:

154780

Human phenotypes related to Marshall Syndrome:

55 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
5 osteoarthritis 55 31 frequent (33%) Frequent (79-30%) HP:0002758
6 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857
7 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
8 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
9 cerebral calcification 55 31 frequent (33%) Frequent (79-30%) HP:0002514
10 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
11 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
12 abnormality of the dentition 55 31 hallmark (90%) Very frequent (99-80%) HP:0000164
13 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
14 thickened calvaria 55 31 frequent (33%) Frequent (79-30%) HP:0002684
15 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
16 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
17 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
18 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
19 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
20 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
21 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
22 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
23 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
24 thick lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000179
25 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
26 hypohidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000966
27 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
28 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
29 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
30 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
31 retinal detachment 55 31 frequent (33%) Frequent (79-30%) HP:0000541
32 ectopia lentis 55 31 frequent (33%) Frequent (79-30%) HP:0001083
33 hypotrichosis 55 31 frequent (33%) Frequent (79-30%) HP:0001006
34 amblyopia 55 31 frequent (33%) Frequent (79-30%) HP:0000646
35 thick upper lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000215
36 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
37 vitreoretinal degeneration 55 31 frequent (33%) Frequent (79-30%) HP:0000655
38 sparse eyelashes 55 31 occasional (7.5%) Occasional (29-5%) HP:0000653
39 hypoplastic frontal sinuses 55 31 frequent (33%) Frequent (79-30%) HP:0002738
40 low-set ears 31 HP:0000369
41 platyspondyly 31 HP:0000926
42 coxa valga 31 HP:0002673
43 epicanthus 31 HP:0000286
44 irregular proximal tibial epiphyses 31 HP:0006456
45 lens luxation 31 HP:0012019
46 cheekbone underdevelopment 55 Very frequent (99-80%)
47 midface retrusion 31 HP:0011800
48 abnormality of the vitreous humor 55 Frequent (79-30%)
49 sparse eyebrow 55 Occasional (29-5%)
50 esotropia 31 HP:0000565

Drugs & Therapeutics for Marshall Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Withdrawn NCT02535962 Phase 2
2 Tonsillotomy or Follow-up in PFAPA Syndrome Recruiting NCT03331497
3 Life Quality Study for PFAPA Patient Recruiting 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 28 COL11A1

Anatomical Context for Marshall Syndrome

MalaCards organs/tissues related to Marshall Syndrome:

38
Eye, Bone, Skin

Publications for Marshall Syndrome

Articles related to Marshall Syndrome:

(show all 24)
# Title Authors Year
1
Marshall syndrome in a young child, a reality: Case report. ( 27858841 )
2016
2
Marshall syndrome: Clinical, radiological and genetical features of a tunisian family. ( 26367406 )
2015
3
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. ( 25073711 )
2014
4
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. ( 22499343 )
2012
5
Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report. ( 20199420 )
2010
6
Mosaicism in Marshall syndrome. ( 19449424 )
2009
7
Vitreous veils and radial lattice in Marshall syndrome. ( 19005991 )
2008
8
Marshall syndrome. ( 15767717 )
2005
9
Prenatal diagnosis of marshall syndrome by targeted sonography. ( 16301732 )
2005
10
Spontaneous rupture of the lens capsule in a case of Marshall syndrome. ( 12353903 )
2002
11
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. ( 10889003 )
2000
12
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. ( 10486316 )
1999
13
Marshall syndrome and a defect at the COL11A1 locus. ( 9792885 )
1998
14
Gene symbol: COL11A1. Disease: Marshall syndrome. ( 9600252 )
1998
15
Marshall syndrome associated with a splicing defect at the COL11A1 locus. ( 9529347 )
1998
16
The Marshall syndrome: report of a new family and review of the literature. ( 9129742 )
1997
17
Marshall syndrome. ( 1951461 )
1991
18
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. ( 4014313 )
1985
19
Extreme upper airway obstruction with the Marshall syndrome. ( 6211325 )
1982
20
Marshall syndrome: a condition resembling congenital syphilis. ( 7214117 )
1981
21
Generalized osseous abnormalities in the Marshall syndrome. ( 953235 )
1976
22
Letter: Marshall syndrome: eulogy or resurrection? ( 1133671 )
1975
23
Letter: The demise of the Marshall syndrome. ( 4420090 )
1974
24
The Marshall syndrome: report of a new family. ( 4826625 )
1974

Variations for Marshall Syndrome

ClinVar genetic disease variations for Marshall Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 COL11A1, 4-BP DEL, EX50/IVS50 deletion Pathogenic
2 COL11A1 COL11A1, 1-BP INS, 3816T insertion Pathogenic
3 COL11A1 NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro) single nucleotide variant risk factor rs1676486 GRCh37 Chromosome 1, 103354138: 103354138
4 COL11A1 NM_080629.2(COL11A1): c.3852+1G> A single nucleotide variant Pathogenic rs398122828 GRCh37 Chromosome 1, 103381186: 103381186
5 COL11A1 NM_080629.2(COL11A1): c.3204+1G> T single nucleotide variant Pathogenic rs886042653 GRCh37 Chromosome 1, 103427421: 103427421

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 COL11A1 COL2A1
2 proteinaceous extracellular matrix GO:0005578 9.16 COL11A1 COL2A1
3 endoplasmic reticulum lumen GO:0005788 8.96 COL11A1 COL2A1
4 collagen trimer GO:0005581 8.62 COL11A1 COL2A1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.51 COL11A1 COL2A1
2 visual perception GO:0007601 9.49 COL11A1 COL2A1
3 sensory perception of sound GO:0007605 9.48 COL11A1 COL2A1
4 ossification GO:0001503 9.46 COL11A1 COL2A1
5 cartilage development GO:0051216 9.43 COL11A1 COL2A1
6 collagen catabolic process GO:0030574 9.4 COL11A1 COL2A1
7 inner ear morphogenesis GO:0042472 9.37 COL11A1 COL2A1
8 heart morphogenesis GO:0003007 9.32 COL11A1 COL2A1
9 skeletal system morphogenesis GO:0048705 9.26 COL11A1 COL2A1
10 collagen fibril organization GO:0030199 9.16 COL11A1 COL2A1
11 cartilage condensation GO:0001502 8.96 COL11A1 COL2A1
12 proteoglycan metabolic process GO:0006029 8.62 COL11A1 COL2A1

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 8.62 COL11A1 COL2A1

Sources for Marshall Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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