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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 3
16 OMIM references -
26 associated genes
No signs/symptoms info
Craniometaphyseal dysplasia
Amyotrophic lateral sclerosis

ANKH ANG
GJA1 ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
GJA1
GJA1
(0.63)
(0.63)
(0.63)
PFN1
PRPH
SOD1



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Craniometaphyseal dysplasia
Amyotrophic lateral sclerosis

Synonym(s):
- CMD

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
16 OMIM references -
1 MeSH reference: D000690

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


Amyotrophic lateral sclerosis

(no data available)