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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Ehlers-Danlos syndrome type 7A

1 OMIM reference -
1 associated gene
7 signs/symptoms

CARASIL

Ehlers-Danlos syndrome type 7A

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTRA1	(0.63)	COL1A1

Citations in the biomedical literature:

CARASIL		Ehlers-Danlos syndrome type 7A
	Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome		Synonym(s): - EDS VIIA

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - 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

Ehlers-Danlos syndrome type 7A
	Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Autosomal dominant inheritance - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Muscle weakness / flaccidity - Short stature / dwarfism / nanism - Thin skin
CARASIL
(no data available)