ODCs

Cytoscape Web

Click node...

Acrocallosal syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Aneurysm - osteoarthritis syndrome

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

Acrocallosal syndrome

Aneurysm - osteoarthritis syndrome

GLI3	(UniProt - OMIM)		SMAD3	(UniProt - OMIM)
KIF7	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GLI3	(0.52)	SMAD3

Citations in the biomedical literature:

Acrocallosal syndrome		Aneurysm - osteoarthritis syndrome
	Synonym(s): - ACS		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable 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

Acrocallosal syndrome
	Very frequent - Autosomal recessive inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Dandy-Walker anomaly - Fingerlike / triphalangeal thumb - Prominent occiput / occipital bossing - Sloping forehead Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clavicle absent / abnormal - Diaphragmatic hernia / defect / agenesis - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes
Aneurysm - osteoarthritis syndrome
(no data available)