MRSHS
MCID: MRS002
MIFTS: 49

Marshall Syndrome (MRSHS) malady

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

Aliases & Classifications for Marshall Syndrome

Aliases & Descriptions for Marshall Syndrome:

Name: Marshall Syndrome 54 50 24 56 66 29 13 69
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type 50
Mrshs 66

Characteristics:

Orphanet epidemiological data:

56
marshall syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
marshall syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 154780
Orphanet 56 ORPHA560
MESH via Orphanet 43 C536025
UMLS via Orphanet 70 C0265235
ICD10 via Orphanet 34 Q87.0
MedGen 40 C0265235

Summaries for Marshall Syndrome

UniProtKB/Swiss-Prot : 66 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 deafness, myopia, cataract, saddle nose-marshall type, is related to periodic fever, aphthous stomatitis, pharyngitis and adenitis and fibrochondrogenesis 1, 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. The drugs Amoxicillin and Ciprofloxacin have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin.

NIH Rare Diseases : 50 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

Wikipedia : 71 Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three... 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 by clinical synopsis from OMIM:

154780

Clinical features from OMIM:

154780

Human phenotypes related to Marshall Syndrome:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 malar flattening 56 32 Very frequent (99-80%) HP:0000272
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 frontal bossing 56 32 Occasional (29-5%) HP:0002007
5 osteoarthritis 56 32 Frequent (79-30%) HP:0002758
6 genu valgum 56 32 Frequent (79-30%) HP:0002857
7 high palate 56 32 Occasional (29-5%) HP:0000218
8 nystagmus 56 32 Occasional (29-5%) HP:0000639
9 cerebral calcification 56 32 Frequent (79-30%) HP:0002514
10 cataract 56 32 Very frequent (99-80%) HP:0000518
11 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
12 abnormality of the teeth 56 32 Very frequent (99-80%) HP:0000164
13 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
14 thickened calvaria 56 32 Frequent (79-30%) HP:0002684
15 short nose 56 32 Very frequent (99-80%) HP:0003196
16 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
17 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
18 visual impairment 56 32 Frequent (79-30%) HP:0000505
19 short stature 56 32 Very frequent (99-80%) HP:0004322
20 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
21 cleft palate 56 32 Frequent (79-30%) HP:0000175
22 long philtrum 56 32 Very frequent (99-80%) HP:0000343
23 micrognathia 56 32 Very frequent (99-80%) HP:0000347
24 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
25 strabismus 56 32 Occasional (29-5%) HP:0000486
26 hypohidrosis 56 32 Frequent (79-30%) HP:0000966
27 flat face 56 32 Very frequent (99-80%) HP:0012368
28 myopia 56 32 Very frequent (99-80%) HP:0000545
29 hypoplasia of the maxilla 56 32 Frequent (79-30%) HP:0000327
30 glaucoma 56 32 Frequent (79-30%) HP:0000501
31 retinal detachment 56 32 Frequent (79-30%) HP:0000541
32 ectopia lentis 56 32 Frequent (79-30%) HP:0001083
33 hypotrichosis 56 32 Frequent (79-30%) HP:0001006
34 amblyopia 56 32 Frequent (79-30%) HP:0000646
35 proptosis 56 32 Frequent (79-30%) HP:0000520
36 abnormality of the vitreous humor 56 32 Frequent (79-30%) HP:0004327
37 thick upper lip vermilion 56 32 Very frequent (99-80%) HP:0000215
38 vitreoretinal degeneration 56 32 Frequent (79-30%) HP:0000655
39 sparse eyelashes 56 32 Occasional (29-5%) HP:0000653
40 hypoplastic frontal sinuses 56 32 Frequent (79-30%) HP:0002738
41 low-set ears 32 HP:0000369
42 platyspondyly 32 HP:0000926
43 coxa valga 32 HP:0002673
44 epicanthus 32 HP:0000286
45 lens luxation 32 HP:0012019
46 cheekbone underdevelopment 56 Very frequent (99-80%)
47 midface retrusion 32 HP:0011800
48 sparse eyebrow 56 Occasional (29-5%)
49 radial bowing 32 HP:0002986
50 ulnar bowing 32 HP:0003031

Drugs & Therapeutics for Marshall Syndrome

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

(show top 50) (show all 194)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613 2171
2
Ciprofloxacin Approved, Investigational Phase 3,Phase 2 85721-33-1 2764
3
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
4
Cobicistat Approved Phase 3 1004316-88-4
5
Darunavir Approved Phase 3 635728-49-3, 206361-99-1 213039
6
Didanosine Approved Phase 3 69655-05-6 50599
7
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
8
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
9
Tenofovir Approved, Investigational Phase 3 147127-20-6 464205
10
Zidovudine Approved Phase 3 30516-87-1 35370
11
Ritonavir Approved, Investigational Phase 3,Phase 1 155213-67-5 392622
12
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
13
Asparaginase Approved Phase 3 9015-68-3
14
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
15
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
16
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
17
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
18
Levoleucovorin Approved Phase 3 68538-85-2
19
Pegaspargase Approved, Investigational Phase 3 130167-69-0
20
Thioguanine Approved Phase 3 154-42-7 2723601
21
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
22
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
23
Cortisone acetate Approved Phase 3 1950-04-4, 50-04-4 5745
24
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
25
Etoposide Approved Phase 3 33419-42-0 36462
26
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
27
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
28
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
29
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
31
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
32
Doxil Approved June 1999 Phase 3 31703
33
Butyric Acid Experimental Phase 3 107-92-6 264
34 Amoxicillin-Potassium Clavulanate Combination Phase 3
35 Anti-Bacterial Agents Phase 3,Phase 2
36 Antibiotics, Antitubercular Phase 3,Phase 2
37 Anti-Infective Agents Phase 3,Phase 2,Phase 1
38 Antitubercular Agents Phase 3
39 beta-Lactamase Inhibitors Phase 3,Phase 2
40 Clavulanic Acid Phase 3
41 Cytochrome P-450 CYP1A2 Inhibitors Phase 3,Phase 2
42 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2,Phase 1
43 Topoisomerase Inhibitors Phase 3,Phase 2
44 Anti-HIV Agents Phase 3,Phase 1
45 Anti-Retroviral Agents Phase 3,Phase 1
46 Antiviral Agents Phase 3,Phase 1
47 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 1
48 HIV Protease Inhibitors Phase 3,Phase 1
49 Nucleic Acid Synthesis Inhibitors Phase 3
50
protease inhibitors Phase 3,Phase 1

Interventional clinical trials:

(show all 48)
id Name Status NCT ID Phase
1 Early Hospital Discharge or Standard Inpatient Care in Cancer Patients Receiving Antibiotics for Febrile Neutropenia Unknown status NCT00445497 Phase 3
2 Safety and Efficacy of Cobicistat-boosted Darunavir in HIV Infected Adults Completed NCT01440569 Phase 3
3 Efficacy, Safety, and Tolerability of JNJ-27018966 in the Treatment of Patients With Diarrhea-Predominant Irritable Bowel Syndrome (IBS-d) (Protocol JNJ-27018966IBS3001) Completed NCT01553591 Phase 3
4 Evaluation of Cardiovascular Outcomes in Patients With Type 2 Diabetes After Acute Coronary Syndrome During Treatment With AVE0010 (Lixisenatide) Completed NCT01147250 Phase 3
5 Study to Evaluate the Safety and Efficacy of Stribild Versus Ritonavir-Boosted Atazanavir Plus Truvada in Human Immunodeficiency Virus, Type 1 (HIV-1) Infected, Antiretroviral Treatment-Naive Adults Completed NCT01106586 Phase 3
6 Cardiovascular Inflammation Reduction Trial Recruiting NCT01594333 Phase 3
7 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3
8 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3
9 Shortened Aggrastat® Versus Integrilin in Percutaneous Coronary Intervention Unknown status NCT01522417 Phase 2
10 Growth Hormone and/or Rosiglitazone for HIV-Associated Increased Abdominal Fat and Insulin Resistance Completed NCT00130286 Phase 1, Phase 2
11 Efficacy, Safety, and Tolerability of JNJ-27018966 in the Treatment of Irritable Bowel Syndrome With Diarrhea Completed NCT01130272 Phase 2
12 Pilot Study of the Utility of Empiric Antibiotic Therapy for Suspected ICU-Acquired Infection Completed NCT00438269 Phase 2
13 Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Not yet recruiting NCT02535962 Phase 2
14 IC14 Antibodies to Treat Individuals With Acute Lung Injury Terminated NCT00233207 Phase 2
15 A Comparison of B Type Natriuretic Peptide Levels and Hemodynamics Using the Nexfin Device in Healthy Pregnant and Preeclamptic Women - A Pilot Study Unknown status NCT02527018 Phase 1
16 Effect of Emotional Freedom Technique and Diaphragmatic Breathing on Post Traumatic Stress Disorder (PTSD) Completed NCT00514956 Phase 1
17 Interactions Between HIV Protease Inhibitors and Calcium Channel Blockers Completed NCT00039975 Phase 1
18 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1
19 Epstein-Barr Virus as a Possible Cause for Chronic Fatigue Syndrome Completed NCT00433355
20 Chronic Gastrointestinal Sequelae of an Acute Outbreak of Bacterial Gastroenteritis in Walkerton Ontario Completed NCT00235326
21 Incidence of Fat Embolism With Computer Assisted Total Knee Arthroplasty Completed NCT00656877
22 Assessment of the Sensitivity of the Hypothalamic GnRH Pulse Generator to Estradiol and Progesterone Inhibition Completed NCT01425541
23 Rifabutin Therapy for the Prevention of Mycobacterium Avium Complex (MAC) Bacteremia in AIDS Patients With CD4 Counts = or < 200: A Double-Blind, Placebo-Controlled Trial Completed NCT00002267
24 Interleukin-2 (IL-2), Pegylated Interferon (PEG-IFN Alfa-2b), and Ribavirin (RBV) Treatment in Patients With Hepatitis C and HIV Coinfection Completed NCT00015652
25 Life Quality Study for PFAPA Patient Recruiting NCT02811705
26 Evaluation of Adrenal Androgens in Normal and Obese Girls After Suppression and Stimulation Recruiting NCT01421797
27 In-line Filtration to Reduce Systemic Inflammatory Response Syndrome in Babies Born Very prEtErm Recruiting NCT02686060
28 Eosinophilic Granulomatosis With Polyangiitis Cohort Recruiting NCT03036670
29 Effect of Spironolactone on Adrenal or Ovarian Androgen Production in Overweight Pubertal Girls With Androgen Excess Recruiting NCT01422759
30 Effect of Metformin on Adrenal or Ovarian Androgen Production in Overweight Pubertal Girls With Androgen Excess Recruiting NCT01422746
31 Urinary DENND1A.V2 as a Predictor of Pubertal Hyperandrogenemia Recruiting NCT02611128
32 Integrated Cancer Repository for Cancer Research Recruiting NCT02012699
33 Exercise in Genetic Cardiovascular Conditions Recruiting NCT02549664
34 Assessment of Day-night Secretion of Progesterone and LH Across Puberty Recruiting NCT02155933
35 Respiratory Virus Outpatient Study (FLU 002 Plus) Recruiting NCT01056354
36 IMPAACT P1107: Effects of Cord Blood Transplantation With CCR5Δ32 Donor Cells on HIV Persistence Recruiting NCT02140944
37 Bacteremia Antibiotic Length Actually Needed for Clinical Effectiveness: A Pilot RCT Recruiting NCT02261506
38 Study of Kidney Tumors in Younger Patients Recruiting NCT00898365
39 Bacteremia Antibiotic Length Actually Needed for Clinical Effectiveness Recruiting NCT03005145
40 Assessment of Sensitivity of the Hypothalamic GnRH Pulse Generator to Estradiol and Progesterone Inhibition Active, not recruiting NCT01428245
41 Effects of Androgen Blockade on Sensitivity of the GnRH Pulse Generator to Suppression by Estradiol and Progesterone Active, not recruiting NCT01428193
42 Effect of Metformin on Sensitivity of the GnRH Pulse Generator to Suppression by Estradiol and Progesterone Active, not recruiting NCT01427595
43 Chemotherapy Induced Peripheral Neuropathy. Could Physical Therapy Help Treat Symptoms? Active, not recruiting NCT02239601
44 Investigating Serotonin Signalling in IBD Patients Active, not recruiting NCT01650311
45 Prospective Observational Epidemiologic Study of Maraviroc's Safety Active, not recruiting NCT00665561
46 Effect of Longer-term Adrenal Suppression Using Low Dose Hydrocortisone on Androgen Overproduction Not yet recruiting NCT01422733
47 Effect of Short Term Ovarian Suppression on Androgen Overproduction in Overweight Girls With Androgen Excess Not yet recruiting NCT01422096
48 Effect of Short Term Adrenal Suppression on Androgen Overproduction in Overweight Girls With Androgen Excess Not yet recruiting NCT01422707

Search NIH Clinical Center for Marshall Syndrome

Genetic Tests for Marshall Syndrome

Genetic tests related to Marshall Syndrome:

id Genetic test Affiliating Genes
1 Marshall Syndrome 29 24 COL11A1

Anatomical Context for Marshall Syndrome

MalaCards organs/tissues related to Marshall Syndrome:

39
Eye, Bone, Skin

Publications for Marshall Syndrome

Articles related to Marshall Syndrome:

(show all 24)
id 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 associated with a splicing defect at the COL11A1 locus. ( 9529347 )
1998
14
Gene symbol: COL11A1. Disease: Marshall syndrome. ( 9600252 )
1998
15
Marshall syndrome and a defect at the COL11A1 locus. ( 9792885 )
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
id 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:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.26 COL11A1 COL2A1
2 extracellular matrix GO:0031012 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)
id 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 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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