ORPHA:221061
Familial cerebral cavernous malformation
Synonyms: Familial brain cavernous angioma · Familial cerebral cavernoma · Hereditary brain cavernous angioma · Hereditary cerebral cavernoma · Hereditary cerebral cavernous malformation
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, capillary-venous malformations 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial cerebral cavernous malformation | Familial brain cavernous angioma · Familial cerebral cavernoma · Hereditary brain cavernous angioma · Hereditary cerebral cavernoma · Hereditary cerebral cavernous malformation |
| fr | Cavernomatose cérébrale héréditaire | Angiome caverneux cérébral familial · Angiome caverneux cérébral héréditaire · Cavernome cérébral héréditaire · Malformation caverneuse cérébrale familiale · Malformation caverneuse cérébrale héréditaire · Cavernomatose cérébrale familial |
| de | Familiäre zerebrale kavernöse Fehlbildung | Familiäre zerebrale kavernöse Malformation · Familiäres zerebrales Kavernom · Familiäres kavernöses Angiom des Gehirns · FCCM · Zerebrales Kavernom, hereditäres · Hereditäre zerebrale kavernöse Malformation |
| es | Malformación cavernosa cerebral familiar | Cavernoma cerebral familiar · Cavernoma cerebral hereditario · Malformación cavernosa cerebral hereditaria · Angioma cavernoso cerebral familiar · Angioma cavernoso cerebral hereditario |
| it | Malformazione cavernosa cerebrale famigliare | Angioma cavernoso cerebrale ereditario · Angioma cavernoso cerebrale familiare · Cavernoma cerebrale ereditario · Cavernoma cerebrale familiare · Malformazione cavernosa cerebrale ereditaria |
| nl | Familiale cerebrale caverneuze malformatie | Familiaal caverneus angioom van hersenen · Familiaal cerebraal cavernoom · Hereditair cerebraal cavernoom · Hereditaire cerebrale caverneuze malformatie · Familiale caverneuze malformatie van hersenen · Hereditaire caverneuze malformatie van hersenen · Hereditair caverneus angioom van hersenen |
| pt | Malformação cavernosa cerebral familiar | Angioma cavernoso cerebral familiar · Angioma cavernoso cerebral hereditário · Cavernoma cerebral familiar · Cavernoma cerebral hereditário |
| pl | Dziedziczna malformacja jamista mózgu | Dziedziczny naczyniak jamisty mózgu · Rodzinna malformacja jamista mózgu · Rodzinny naczyniak jamisty mózgu |
| cs | Familiární cerebrální kavernózní malformace | Familiární kavernózní angiom mozku · Familiární kavernózní hemangiom mozku · Familiární cerebrální kavernom · Hereditární kavernózní hemangiom mozku · Hereditární cerebrální kavernom · Hereditární cerebrální kavernózní malformace · Dědičný kavernózní angiom mozku |
| uk | Сімейна кавернозна мальформація головного мозку | Сімейна кавернозна ангіома головного мозку · Сімейна кавернома головного мозку · Спадкова кавернозна ангіома головного мозку · Спадкова кавернома головного мозку · Спадкова кавернозна мальформація головного мозку |
| zh | 家族性大脑海绵状畸形 | 家族性大脑海绵状畸形 |
| tr | Ailesel serebral kavernöz malformasyon | Ailesel serebral kavernom · Kalıtsal serebral kavernom · Ailesel beyin kavernöz anjiyom · Kalıtsal beyin kavernöz anjiyom · Kalıtsal serebral kavernöz malformasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 116860 | E | validated | |
| OMIM | 603284 | BTNT | validated | |
| OMIM | 603285 | BTNT | validated | |
| OMIM | 619538 | BTNT | validated | |
| ICD-10 | Q28.3 | NTBT | attributed | validated |
| ICD-11 | LA90.0Y | NTBT | index | validated |
| MONDO | 0031037 | E | validated | |
| MeSH | C536610 | E | validated | |
| UMLS | C2931263 | E | validated | |
| GARD | 13641 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:723432Central nervous system venous vascular malformation
rare developmental anomalies during embryogenesis; rare neurological diseases; rare circulatory system diseases - ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:459548Rare genetic venous malformation
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2486Transverse limb deficiency-hemangioma syndrome moved to · inactive
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCM2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21708 | ENSG00000136280 | 607929 | 7p13 | CCM2 scaffold protein | 20301470[PMID] |
| KRIT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1573 | ENSG00000001631 | 604214 | 7q21.2 | KRIT1 ankyrin repeat containing | 20301470[PMID] |
| PDCD10 | Disease-causing germline mutation(s) in | Assessed | HGNC:8761 | ENSG00000114209 | 609118 | 3q26.1 | programmed cell death 10 | 20301470[PMID] |
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 34496175[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
25 annotations · validated 2024-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0033522 | Cerebral cavernous malformation | |
| Very frequent (99-80%) | ||
| HP:0001342 | Cerebral hemorrhage | |
| HP:0002315 | Headache | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001048 | Cavernous hemangioma | |
| HP:0012748 | Focal T2 hyperintense brainstem lesion | |
| HP:0012749 | Focal T2 hypointense brainstem lesion | |
| HP:0001028 | Hemangioma | |
| HP:0033748 | Hypoesthesia | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0001324 | Muscle weakness | |
| HP:0030430 | Neuroma | |
| HP:0003401 | Paresthesia | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0007872 | Choroidal hemangioma | |
| HP:0100543 | Cognitive impairment | |
| HP:0002572 | Episodic vomiting | |
| HP:0011513 | Retinal cavernous angioma | |
| HP:0100561 | Spinal cord lesion | |
| HP:0011276 | Vascular skin abnormality | |
| HP:0012721 | Venous malformation | |
| Very rare (<4-1%) | ||
| HP:0010512 | Adrenal calcification | |
| HP:0009592 | Astrocytoma | |
| HP:0002858 | Meningioma | |
| HP:0009588 | Vestibular schwannoma | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27792856[PMID]_30909834[PMID]_20301470[PMID]_24265337[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221061
- This record as JSON: /data/d/221061.json