Cytoscape Web
Click node...

CARASIL
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Microphthalmia with brain and digit anomalies
1 OMIM reference -
1 associated gene
23 signs/symptoms
CARASIL
Microphthalmia with brain and digit anomalies

HTRA1
(UniProt - OMIM)
 BMP4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HTRA1
(0.59)
BMP4


Citations in the biomedical literature:


CARASIL
HTRA1
Microphthalmia with brain and digit anomalies
BMP4



CARASIL
Microphthalmia with brain and digit anomalies

Synonym(s):
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Maeda syndrome
Synonym(s):
- Bakrania-Ragge syndrome
- MCOPS6
- Syndromic microphthalmia type 6
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Microphthalmia with brain and digit anomalies

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia

Frequent
- Cataract / lens opacification
- Coloboma of iris
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcornea
- Retinoschisis / retinal / chorioretinal coloboma

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corpus callosum / septum pellucidum total / partial agenesis
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved fingernails
- High vaulted / narrow palate
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Microcephaly
- Myopia
- Nystagmus
- Postaxial polydactyly of toes / fifth supernumerary toe
- Proximally set thumb
- Retinal / chorioretinal dysplasia / dystrophy
- Sclerocornea
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes


CARASIL

(no data available)