ODCs

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

PROTEIN INTERACTIONS: 1

Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

CARASIL

Multiple synostoses syndrome

HTRA1	(UniProt - OMIM)		FGF9	(UniProt - OMIM)
			GDF5	(UniProt - OMIM)
			NOG	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTRA1	(0.59)	GDF5

Citations in the biomedical literature:

CARASIL		Multiple synostoses syndrome
	Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome		Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic 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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

Multiple synostoses syndrome
	Very frequent - Autosomal dominant inheritance - Conductive deafness / hearing loss - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Symphalangy of fingers Frequent - Broad / bifid thumb - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies
CARASIL
(no data available)