MCID: MRS002
MIFTS: 44

Marshall Syndrome

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

Aliases & Classifications for Marshall Syndrome

MalaCards integrated aliases for Marshall Syndrome:

Name: Marshall Syndrome 57 76 53 59 75 37 29 13 6 40 73
Mrshs 57 75
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:



Summaries for Marshall Syndrome

UniProtKB/Swiss-Prot : 75 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. 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 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.

Wikipedia : 76 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:

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

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:

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 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
4 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
5 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
6 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
7 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
8 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
9 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
10 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
11 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
12 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
13 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
14 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
15 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
16 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
17 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
18 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
19 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
20 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
21 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
22 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
23 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
24 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
25 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
26 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
27 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
28 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
29 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
30 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
31 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
32 ectopia lentis 59 32 frequent (33%) Frequent (79-30%) HP:0001083
33 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
34 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
35 thick upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000215
36 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
37 vitreoretinal degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0000655
38 sparse eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000653
39 hypoplastic frontal sinuses 59 32 frequent (33%) Frequent (79-30%) HP:0002738
40 low-set ears 32 HP:0000369
41 platyspondyly 32 HP:0000926
42 coxa valga 32 HP:0002673
43 epicanthus 32 HP:0000286
44 irregular proximal tibial epiphyses 32 HP:0006456
45 lens luxation 32 HP:0012019
46 cheekbone underdevelopment 59 Very frequent (99-80%)
47 midface retrusion 32 HP:0011800
48 abnormality of the vitreous humor 59 Frequent (79-30%)
49 sparse eyebrow 59 Occasional (29-5%)
50 esotropia 32 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 Life Quality Study for PFAPA Patient Unknown status NCT02811705
3 Tonsillotomy or Follow-up in PFAPA Syndrome Recruiting NCT03331497 Not Applicable

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

Publications for Marshall Syndrome

Articles related to Marshall Syndrome:

(show all 25)
# 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
Prenatal diagnosis of marshall syndrome by targeted sonography. ( 16301732 )
2005
9
Marshall syndrome. ( 15767717 )
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 associated with a splicing defect at the COL11A1 locus. ( 9529347 )
1998
14
Marshall syndrome and a defect at the COL11A1 locus. ( 9792885 )
1998
15
Gene symbol: COL11A1. Disease: Marshall syndrome. ( 9600252 )
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
The Weissenbacher-ZweymA1ller, Stickler, and Marshall syndromes: further evidence for their identity. ( 6650564 )
1983
20
Extreme upper airway obstruction with the Marshall syndrome. ( 6211325 )
1982
21
Marshall syndrome: a condition resembling congenital syphilis. ( 7214117 )
1981
22
Generalized osseous abnormalities in the Marshall syndrome. ( 953235 )
1976
23
Letter: Marshall syndrome: eulogy or resurrection? ( 1133671 )
1975
24
The Marshall syndrome: report of a new family. ( 4826625 )
1974
25
Letter: The demise of the Marshall syndrome. ( 4420090 )
1974

Variations for Marshall Syndrome

ClinVar genetic disease variations for Marshall Syndrome:

6
(show top 50) (show all 238)
# 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.3816+1G> A single nucleotide variant Pathogenic rs398122828 GRCh37 Chromosome 1, 103381186: 103381186
4 COL11A1 NM_001854.3(COL11A1): c.3816+1G> A single nucleotide variant Pathogenic rs398122828 GRCh38 Chromosome 1, 102915630: 102915630
5 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh37 Chromosome 1, 103364487: 103364487
6 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh38 Chromosome 1, 102898931: 102898931
7 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh37 Chromosome 1, 103379193: 103379193
8 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh38 Chromosome 1, 102913637: 102913637
9 COL11A1 NM_001854.3(COL11A1): c.1792-12_1792-10dupATG duplication Conflicting interpretations of pathogenicity rs746011545 GRCh37 Chromosome 1, 103471457: 103471459
10 COL11A1 NM_001854.3(COL11A1): c.1792-12_1792-10dupATG duplication Conflicting interpretations of pathogenicity rs746011545 GRCh38 Chromosome 1, 103005901: 103005903
11 COL11A1 NM_001854.3(COL11A1): c.1944+11T> C single nucleotide variant Benign rs71664954 GRCh37 Chromosome 1, 103469989: 103469989
12 COL11A1 NM_001854.3(COL11A1): c.1944+11T> C single nucleotide variant Benign rs71664954 GRCh38 Chromosome 1, 103004433: 103004433
13 COL11A1 NM_001854.3(COL11A1): c.2578T> A (p.Phe860Ile) single nucleotide variant Benign/Likely benign rs141548164 GRCh37 Chromosome 1, 103444970: 103444970
14 COL11A1 NM_001854.3(COL11A1): c.2578T> A (p.Phe860Ile) single nucleotide variant Benign/Likely benign rs141548164 GRCh38 Chromosome 1, 102979414: 102979414
15 COL11A1 NM_001854.3(COL11A1): c.2921C> A (p.Pro974Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78046647 GRCh37 Chromosome 1, 103428312: 103428312
16 COL11A1 NM_001854.3(COL11A1): c.2921C> A (p.Pro974Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78046647 GRCh38 Chromosome 1, 102962756: 102962756
17 COL11A1 NM_080629.2(COL11A1): c.652-7_652-6delTT deletion Benign rs570169691 GRCh37 Chromosome 1, 103496806: 103496807
18 COL11A1 NM_080629.2(COL11A1): c.652-7_652-6delTT deletion Benign rs570169691 GRCh38 Chromosome 1, 103031250: 103031251
19 COL11A1 NM_001854.3(COL11A1): c.652-6dupT duplication Conflicting interpretations of pathogenicity rs749687230 GRCh37 Chromosome 1, 103496806: 103496806
20 COL11A1 NM_001854.3(COL11A1): c.652-6dupT duplication Conflicting interpretations of pathogenicity rs749687230 GRCh38 Chromosome 1, 103031250: 103031250
21 COL11A1 NM_001854.3(COL11A1): c.3811G> T (p.Val1271Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150669855 GRCh37 Chromosome 1, 103381192: 103381192
22 COL11A1 NM_001854.3(COL11A1): c.3811G> T (p.Val1271Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150669855 GRCh38 Chromosome 1, 102915636: 102915636
23 COL11A1 NM_001854.3(COL11A1): c.4057G> A (p.Ala1353Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151249006 GRCh37 Chromosome 1, 103377744: 103377744
24 COL11A1 NM_001854.3(COL11A1): c.4057G> A (p.Ala1353Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151249006 GRCh38 Chromosome 1, 102912188: 102912188
25 COL11A1 NM_001854.3(COL11A1): c.4185C> T (p.Val1395=) single nucleotide variant Likely benign rs112577505 GRCh37 Chromosome 1, 103364285: 103364285
26 COL11A1 NM_001854.3(COL11A1): c.4185C> T (p.Val1395=) single nucleotide variant Likely benign rs112577505 GRCh38 Chromosome 1, 102898729: 102898729
27 COL11A1 NM_001854.3(COL11A1): c.4416C> A (p.Asp1472Glu) single nucleotide variant Likely benign rs55821405 GRCh37 Chromosome 1, 103355059: 103355059
28 COL11A1 NM_001854.3(COL11A1): c.4416C> A (p.Asp1472Glu) single nucleotide variant Likely benign rs55821405 GRCh38 Chromosome 1, 102889503: 102889503
29 COL11A1 NM_001854.3(COL11A1): c.4468A> G (p.Ile1490Val) single nucleotide variant Benign/Likely benign rs145901197 GRCh37 Chromosome 1, 103354472: 103354472
30 COL11A1 NM_001854.3(COL11A1): c.4468A> G (p.Ile1490Val) single nucleotide variant Benign/Likely benign rs145901197 GRCh38 Chromosome 1, 102888916: 102888916
31 COL11A1 NM_001854.3(COL11A1): c.5198G> A (p.Arg1733His) single nucleotide variant Uncertain significance rs140250347 GRCh37 Chromosome 1, 103345315: 103345315
32 COL11A1 NM_001854.3(COL11A1): c.5198G> A (p.Arg1733His) single nucleotide variant Uncertain significance rs140250347 GRCh38 Chromosome 1, 102879759: 102879759
33 COL11A1 NM_001854.3(COL11A1): c.1021G> C (p.Glu341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144884147 GRCh37 Chromosome 1, 103488522: 103488522
34 COL11A1 NM_001854.3(COL11A1): c.1021G> C (p.Glu341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144884147 GRCh38 Chromosome 1, 103022966: 103022966
35 COL11A1 NM_001854.3(COL11A1): c.4606C> G (p.Pro1536Ala) single nucleotide variant Benign/Likely benign rs139064549 GRCh37 Chromosome 1, 103354135: 103354135
36 COL11A1 NM_001854.3(COL11A1): c.4606C> G (p.Pro1536Ala) single nucleotide variant Benign/Likely benign rs139064549 GRCh38 Chromosome 1, 102888579: 102888579
37 COL11A1 NM_001854.3(COL11A1): c.4770T> C (p.Ile1590=) single nucleotide variant Benign rs2229783 GRCh37 Chromosome 1, 103352451: 103352451
38 COL11A1 NM_001854.3(COL11A1): c.4770T> C (p.Ile1590=) single nucleotide variant Benign rs2229783 GRCh38 Chromosome 1, 102886895: 102886895
39 COL11A1 NM_001854.3(COL11A1): c.4512T> C (p.Gly1504=) single nucleotide variant Benign rs1763347 GRCh37 Chromosome 1, 103354428: 103354428
40 COL11A1 NM_001854.3(COL11A1): c.4512T> C (p.Gly1504=) single nucleotide variant Benign rs1763347 GRCh38 Chromosome 1, 102888872: 102888872
41 COL11A1 NM_001854.3(COL11A1): c.3979-14A> T single nucleotide variant Benign/Likely benign rs186245518 GRCh37 Chromosome 1, 103379260: 103379260
42 COL11A1 NM_001854.3(COL11A1): c.3979-14A> T single nucleotide variant Benign/Likely benign rs186245518 GRCh38 Chromosome 1, 102913704: 102913704
43 COL11A1 NM_001854.3(COL11A1): c.3968C> T (p.Pro1323Leu) single nucleotide variant Benign rs3753841 GRCh38 Chromosome 1, 102914362: 102914362
44 COL11A1 NM_001854.3(COL11A1): c.3968C> T (p.Pro1323Leu) single nucleotide variant Benign rs3753841 GRCh37 Chromosome 1, 103379918: 103379918
45 COL11A1 NM_001854.3(COL11A1): c.3375C> T (p.Asp1125=) single nucleotide variant Benign rs17127270 GRCh37 Chromosome 1, 103405892: 103405892
46 COL11A1 NM_001854.3(COL11A1): c.3375C> T (p.Asp1125=) single nucleotide variant Benign rs17127270 GRCh38 Chromosome 1, 102940336: 102940336
47 COL11A1 NM_001854.3(COL11A1): c.3277-13A> C single nucleotide variant Likely benign rs371455495 GRCh37 Chromosome 1, 103406003: 103406003
48 COL11A1 NM_001854.3(COL11A1): c.3277-13A> C single nucleotide variant Likely benign rs371455495 GRCh38 Chromosome 1, 102940447: 102940447
49 COL11A1 NM_001854.3(COL11A1): c.3168+15A> G single nucleotide variant Benign rs1012281 GRCh37 Chromosome 1, 103427407: 103427407
50 COL11A1 NM_001854.3(COL11A1): c.3168+15A> G single nucleotide variant Benign rs1012281 GRCh38 Chromosome 1, 102961851: 102961851

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 endoplasmic reticulum lumen GO:0005788 9.16 COL11A1 COL2A1
2 extracellular matrix GO:0031012 8.96 COL11A1 COL2A1
3 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 inner ear morphogenesis GO:0042472 9.4 COL11A1 COL2A1
7 collagen catabolic process GO:0030574 9.37 COL11A1 COL2A1
8 heart morphogenesis GO:0003007 9.32 COL11A1 COL2A1
9 collagen fibril organization GO:0030199 9.26 COL11A1 COL2A1
10 skeletal system morphogenesis GO:0048705 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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