Previous symbols: CADASIL. Aliases: CASIL.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Familial Partial Lipodystrophy | unknown germline |
mechanism: NOTCH3 gain of function and adipose senescence
|
| Sneddon syndrome | unknown |
mechanism: Monogenic Endothelial and Mural Cell Injury
|
| CADASIL Type 1 |
untyped
Causative
|
mechanism: NOTCH3 Mutation and ECD Aggregation
|
| Glomus Tumor | untyped somatic |
mechanism: MIR143-NOTCH Gene Fusion
|
| Lateral Meningocele Syndrome |
untyped
Causative (gain-of-function terminal-exon truncating variants)
germline
gain of function
|
mechanism: NOTCH3 Gain of Function Through Loss of PEST-Mediated Degradation; NOTCH3 Terminal Exon Truncation Escaping Nonsense-Mediated Decay
|
| Meningioma |
untyped
Upregulated signaling in aggressive meningioma models
|
mechanism: NOTCH3 Activation in Aggressive Meningioma
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0000914 | AD | Definitive 2026-06-24 |
CADASIL Type 1
untyped
|
| pulmonary arterial hypertension MONDO:0015924 | AD | Disputed 2022-11-03 |
Pulmonary_hypertension
not named
|
| inherited thrombocytopenia MONDO:0100241 | AR | Limited 2025-11-03 |
no dismech entry |
| cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 MONDO:0979867 | AR | Definitive 2026-08-26 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.