Comparative

Human disease

agenesis of the corpus callosum with peripheral neuropathy

MONDO:0000902

Mondo defines it as: “Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.”

1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.

Animal diseases

By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.

OMIA group Name Found by Species The chain reached Score
2279 Ataxia, spinocerebellar, SLC12A6-related OMIA's OMIM numbers 1 Target evidence 57.5

Human genes

Each human gene of these disease groups that Open Targets links to this disease.

Human gene Score Evidence
SLC12A6 0.81 511

Drugs tested for this disease

Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.

No drug has been tested for this disease.