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2 OMIM references -
2 associated genes
14 signs/symptoms
COMMON GENES: 1
73 OMIM references -
54 associated genes
No signs/symptoms info
Craniometaphyseal dysplasia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB

ANKH BSND
GJA1 CABP2
CDH23
CIB2
CLDN14
COL11A2
DFNB31
DFNB59
ELMOD3
ESPN
ESRRB
GIPC3
GJA1
GJB2
GJB3
GJB6
GPSM2
GRXCR1
HGF
ILDR1
KARS
KCNJ10
LHFPL5
LOXHD1
LRTOMT
MARVELD2
MSRB3
MYO15A
MYO3A
MYO6
MYO7A
OTOA
OTOF
OTOG
OTOGL
PCDH15
PNPT1
PTPRQ
RDX
SERPINB6
SLC26A4
SLC26A5
SLITRK6
STRC
SYNE4
TBC1D24
TECTA
TMC1
TMIE
TMPRSS3
TPRN
TRIOBP
TSPEAR
USH1C


COMMON
GENES
GJA1



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
BSND CABP2 CDH23 CIB2 CLDN14 COL11A2
DFNB31 DFNB59 ELMOD3 ESPN ESRRB GIPC3
GJB2 GJB3 GJB6 GPSM2 GRXCR1
HGF ILDR1 KARS KCNJ10 LHFPL5 LOXHD1
LRTOMT MARVELD2 MSRB3 MYO15A MYO3A MYO6
MYO7A OTOA OTOF OTOG OTOGL PCDH15
PNPT1 PTPRQ RDX SERPINB6 SLC26A4 SLC26A5
SLITRK6 STRC SYNE4 TBC1D24 TECTA TMC1
TMIE TMPRSS3 TPRN TRIOBP TSPEAR USH1C



Craniometaphyseal dysplasia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB

Synonym(s):
- CMD

Synonym(s):
- Autosomal recessive isolated neurosensory deafness type DFNB
- Autosomal recessive isolated sensorineural deafness type DFNB
- Autosomal recessive nonsyndromic neurosensory deafness type DFNB

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

External references:
2 OMIM references -
No MeSH references
External references:
73 OMIM references -
No MeSH references

Craniometaphyseal dysplasia

Very frequent
- Autosomal dominant inheritance
- Broad nasal root
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Hypertelorism
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Telecanthus / canthal dystopy

Occasional
- Conductive deafness / hearing loss
- Cranial nerve anomalies
- Facial palsy
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia


Autosomal recessive nonsyndromic sensorineural deafness type DFNB

(no data available)