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1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 2
48 OMIM references -
31 associated genes
No signs/symptoms info
Achondrogenesis type 2
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:


Achondrogenesis type 2
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



Achondrogenesis type 2
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

Synonym(s):
- Achondrogenesis, Langer-Saldino type

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):
- 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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536017
External references:
48 OMIM references -
No MeSH references

Achondrogenesis type 2

Very frequent
- Abnormal / absent ossification
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Excess nuchal skin without pterygium colli
- Flat face
- Frontal bossing / prominent forehead
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Long philtrum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Short / small nose
- Stillbirth / neonatal death

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Polyhydramnios
- Umbilical hernia

Occasional
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma
- Postaxial polydactyly (hand)


Autosomal dominant nonsyndromic sensorineural deafness type DFNA

(no data available)