Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
35 OMIM references -
25 associated genes
2 signs/symptoms
Atelosteogenesis type I
X-linked non-syndromic intellectual deficit

FLNB 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


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
FLNB
(0.63)
(0.63)
HCFC1
SYP



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
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



Atelosteogenesis type I
X-linked non-syndromic intellectual deficit

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

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

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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: neonatal/infancy
Average age of death: before age 5
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:
1 OMIM reference -
1 MeSH reference: C535396
External references:
35 OMIM references -
No MeSH references

X-linked non-syndromic intellectual deficit

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



Atelosteogenesis type I

(no data available)