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

PROTEIN INTERACTIONS: 1

Fibular aplasia - complex brachydactyly

1 OMIM reference -
1 associated gene
15 signs/symptoms

CARASIL

Fibular aplasia - complex brachydactyly

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

CARASIL		Fibular aplasia - complex brachydactyly
	Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome		Synonym(s): - Du Pan syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Average age of death: - Type of inheritance: autosomal recessive

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

Fibular aplasia - complex brachydactyly
	Very frequent - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Narrow nasal bridge - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Tarsal anomaly / fusion / synostosis - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
CARASIL
(no data available)