Marshall syndrome

Also Known As:

Deafness, myopia, cataract, saddle nose-Marshall type

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Lens Diseases: 7
  - Cataract: 28071
    - Marshall syndrome: 7
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Marshall syndrome: 7
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Marshall syndrome: 7
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Marshall syndrome: 7
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Marshall syndrome: 7
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Marshall syndrome: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Marshall syndrome: 7
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Marshall syndrome: 7
Macromolecular Substances: 97
- Polymers: 13051
  - Biopolymers: 773
    - Collagen: 52417
      - Fibrillar Collagens: 517
        Collagen Type XI: 89
        Marshall syndrome: 7
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Scleroproteins: 74
    - Extracellular Matrix Proteins: 3148
      - Collagen: 52417
        Fibrillar Collagens: 517
        Collagen Type XI: 89
        Marshall syndrome: 7

Related Diseases

1.	type 1 Stickler syndrome
2.	Spontaneous Rupture
3.	Hearing Loss (Hearing Impairment)
4.	Sensorineural Hearing Loss
5.	Glaucoma

Experts

1.	Ben Amor, Sofiène: 1 article (03/2015)
2.	Ben Yahia, Salim: 1 article (03/2015)
3.	Chaabouni, Habiba: 1 article (03/2015)
4.	Chaabouni, Myriam: 1 article (03/2015)
5.	Chioukh, Fatma Zohra: 1 article (03/2015)
6.	Kerkeni, Emna: 1 article (03/2015)
7.	M'rad, Ridha: 1 article (03/2015)
8.	Monastiri, Kamel: 1 article (03/2015)
9.	Sakka, Rania: 1 article (03/2015)
10.	Abuharb, G: 1 article (10/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Marshall syndrome:

1.	CollagenIBA 04/26/2013 - "Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen genes usually leaves the message in-frame. " 03/01/2015 - "It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI. Stickler syndrome is the principal differential diagnosis of Marshall syndrome. " 10/01/2014 - "Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. "
2.	Fibrillar CollagensIBA 01/01/2003 - "Heterozygosity for mutations in the fibrillar collagen gene COL11A1 causes sensorineural hearing loss in patients with Stickler syndrome or Marshall syndrome. " 10/01/2014 - "Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. " 01/01/2003 - "We conclude that Stickler syndrome and Marshall syndrome mutations in COL11A1 cause hearing loss via dominant negative effects upon wild-type fibrillar collagen polypeptides in the extracellular matrices of the cochlea."
3.	Capsules (Microcapsules)IBA 09/01/2002 - "Spontaneous rupture of the lens capsule in a case of Marshall syndrome." 01/01/1998 - "[A case of Marshall syndrome with secondary glaucoma due to spontaneous rupture of the lens capsule]."
4.	RNA Splice SitesIBA 04/01/1998 - "For a large kindred with Marshall syndrome, we demonstrate a splice-donor-site mutation in the COL11A1 gene that cosegregates with the phenotype. "
5.	Peptides (Polypeptides)IBA 01/01/2003 - "We conclude that Stickler syndrome and Marshall syndrome mutations in COL11A1 cause hearing loss via dominant negative effects upon wild-type fibrillar collagen polypeptides in the extracellular matrices of the cochlea."