Details of Disease

General Information of Disease (ID: DISP72I1)

• Disease Name: Famililal cerebral cavernous malformations
• Synonyms: CCM; cerebral capillary malformations; cavernous angiomatous malformations; cavernous malformations of CNS and retina; cavernous angioma, familial; hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations; cerebral cavernous malformations; familial brain cavernous angioma; hereditary brain cavernous angioma; familial cerebral cavernous malformation; hereditary brain cavernous hemangioma; hereditary cerebral cavernous malformation; famililal cerebral cavernous malformations; familial brain cavernous hemangioma; familial cerebral cavernoma; hereditary cerebral cavernoma
• Definition: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISLKNYA: Cerebral cavernous malformation
  DISP72I1: Famililal cerebral cavernous malformations
• Disease Identifiers:
  MONDO ID: MONDO_0031037
  MESH ID: C536610
  UMLS CUI: C2931263
  MedGen ID: 419031
  Orphanet ID: 221061
  SNOMED CT ID: 717003001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCM2	OT2I5DOW	Supportive	Autosomal dominant	[1]
KRIT1	OT58AP1I	Supportive	Autosomal dominant	[1]
PDCD10	OTCHJTSF	Supportive	Autosomal dominant	[1]

References

• [1] Familial Cerebral Cavernous Malformations. 2003 Feb 24 [updated 2023 Jul 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.