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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
35 OMIM references -
25 associated genes
2 signs/symptoms
Craniometaphyseal dysplasia
X-linked non-syndromic intellectual deficit

ANKH ACSL4
GJA1 AGTR2
ALG13
ARHGEF6
ARX
DLG3
FTSJ1
GDI1
HCFC1
IL1RAPL1
IQSEC2
MAGT1
MECP2
MED12
MID2
PAK3
RAB39B
RPS6KA3
SYP
TSPAN7
UPF3B
ZNF41
ZNF674
ZNF711
ZNF81


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.52)
MID2



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
X-linked non-syndromic intellectual deficit
ACSL4 AGTR2 ALG13 ARHGEF6 ARX DLG3
FTSJ1 GDI1 HCFC1 IL1RAPL1 IQSEC2 MAGT1
MECP2 MED12 MID2 PAK3 RAB39B RPS6KA3
SYP TSPAN7 UPF3B ZNF41 ZNF674 ZNF711
ZNF81



Craniometaphyseal dysplasia
X-linked non-syndromic intellectual deficit

Synonym(s):
- CMD

Synonym(s):
- X-linked non-specific intellectual deficit

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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: childhood
Average age of death: no data available
Type of inheritance: x-linked recessive

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

Craniometaphyseal dysplasia
X-linked non-syndromic intellectual deficit

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


Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- X-linked recessive inheritance