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CARASIL
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Acrogeria
1 OMIM reference -
1 associated gene
19 signs/symptoms
CARASIL
Acrogeria

HTRA1
(UniProt - OMIM)
 COL3A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HTRA1
(0.67)
COL3A1


Citations in the biomedical literature:


CARASIL
HTRA1
Acrogeria
COL3A1



CARASIL
Acrogeria

Synonym(s):
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Maeda syndrome
Synonym(s):
- Acrogeria, Gottron type
- Acrometageria
- Gottron syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538187
Acrogeria

Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Fine hair
- Hyperextensible joints / articular hyperlaxity
- Irregular / in bands / reticular skin hyperpigmentation
- Lipoatrophy
- Premature ageing
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Thin skin

Frequent
- Beaked nose
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Rippled skin
- Scoliosis
- Small foot
- Small hand / acromicria
- Telangiectasiae of the skin

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia


CARASIL

(no data available)