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

PROTEIN INTERACTIONS: 1

Acromesomelic dysplasia, Grebe type

1 OMIM reference -
1 associated gene
18 signs/symptoms

CARASIL

Acromesomelic dysplasia, Grebe type

(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		Acromesomelic dysplasia, Grebe type
	Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome		Synonym(s): - Chondrodysplasia, Grebe type

	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: unknown Average age onset: neonatal/infancy 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

Acromesomelic dysplasia, Grebe type
	Very frequent - Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Carpal bones fusion / synostosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Metacarpal anomalies / Archibald's sign - Restricted joint mobility / joint stiffness / ankylosis - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Thumb hypoplasia / aplasia / absence - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Death in infancy - Stillbirth / neonatal death
CARASIL
(no data available)