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1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 2
48 OMIM references -
31 associated genes
No signs/symptoms info
Dysspondyloenchondromatosis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

COL2A1 ACTG1
CCDC50
CEACAM16
COCH
COL11A2
CRYM
DFNA5
DIABLO
DIAPH1
DIAPH3
EYA4
GJB2
GJB3
GJB6
GRHL2
KCNQ4
MIR96
MYH14
MYH9
MYO1A
MYO6
MYO7A
P2RX2
POU4F3
SIX1
SLC17A8
TECTA
TJP2
TMC1
TNC
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
COL2A1
(0.72)
(0.52)
COCH
COL11A2



Citations in the biomedical literature:


Dysspondyloenchondromatosis
COL2A1
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
ACTG1 CCDC50 CEACAM16 COCH COL11A2 CRYM
DFNA5 DIABLO DIAPH1 DIAPH3 EYA4 GJB2
GJB3 GJB6 GRHL2 KCNQ4 MIR96 MYH14
MYH9 MYO1A MYO6 MYO7A P2RX2 POU4F3
SIX1 SLC17A8 TECTA TJP2 TMC1 TNC
WFS1



Dysspondyloenchondromatosis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal dominant isolated neurosensory deafness type DFNA
- Autosomal dominant isolated neurosensory hearing loss type DFNA
- Autosomal dominant isolated sensorineural deafness type DFNA
- Autosomal dominant isolated sensorineural hearing loss type DFNA
- Autosomal dominant nonsyndromic neurosensory deafness type DFNA
- Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA
- Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
48 OMIM references -
No MeSH references

Dysspondyloenchondromatosis

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Exostoses
- Joint / articular deformation
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Scoliosis
- Short stature / dwarfism / nanism
- Vascular anomalies of skin / mucosae
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Delayed bone age
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Genu valgum
- Osteoarthritis
- Platyspondyly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications


Autosomal dominant nonsyndromic sensorineural deafness type DFNA

(no data available)