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Premature chromosome condensation with microcephaly and intellectual deficit
1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Premature chromosome condensation with microcephaly and intellectual deficit
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

MCPH1
(UniProt - OMIM)
 ATR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MCPH1
(0.52)
ATR


Citations in the biomedical literature:


Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR



Premature chromosome condensation with microcephaly and intellectual deficit
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Premature chromosome condensation with microcephaly and intellectual deficit

Very frequent
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism
- Sloping forehead
- Thin / retracted lips

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical anomaly / thick bone cortical layer
- Dilated cerebral ventricles without hydrocephaly
- Hypereflexia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter



Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

(no data available)