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Platyspondylic dysplasia, Torrance type
1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
Ménière disease
1 OMIM reference -
1 associated gene
No signs/symptoms info
Platyspondylic dysplasia, Torrance type
Ménière disease

COL2A1
(UniProt - OMIM)
 COCH
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL2A1
(0.72)
COCH


Citations in the biomedical literature:


Platyspondylic dysplasia, Torrance type
COL2A1
Ménière disease
COCH



Platyspondylic dysplasia, Torrance type
Ménière disease

Synonym(s):
- PLSD-T
- Platyspondylic dysplasia, Torrance-Luton type
- Platyspondylic lethal skeletal dysplasia, Torrance type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the ear and mastoid process -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D008575
Platyspondylic dysplasia, Torrance type

Very frequent
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Metacarpal anomalies / Archibald's sign
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia

Frequent
- Depressed nasal bridge
- Genu varum
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Low set ears / posteriorly rotated ears
- Mid-facial hypoplasia / short / small midface
- Polyhydramnios
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Stillbirth / neonatal death

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula


Ménière disease

(no data available)