ORPHA:75249
Familial isolated restrictive cardiomyopathy
Synonyms: Familial or idiopathic restrictive cardiomyopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated restrictive cardiomyopathy | Familial or idiopathic restrictive cardiomyopathy |
| fr | Cardiomyopathie restrictive familiale isolée | Cardiomyopathie restrictive familiale ou idiopathique |
| de | Kardiomyopathie, restriktive, familiäre isolierte | Kardiomyopathie, restriktive, familiäre oder idiopathische |
| es | Miocardiopatía restrictiva familiar aislada | Cardiomiopatía restrictiva aislada familiar · Miocardiopatía restrictiva aislada idiopática o familiar |
| it | Cardiomiopatia restrittiva isolata familiare | Cardiomiopatia restrittiva idiopatica o familiare |
| nl | Familiale geïsoleerde restrictieve cardiomyopathie | Familiale of idiopathische restrictieve cardiomyopathie |
| pt | Miocardiopatia restritiva idiopática ou familiar | |
| pl | Rodzinna izolowana kardiomiopatia restrykcyjna | Rodzinna lub idiopatyczna kardiomiopatia restrykcyjna |
| cs | Familiární izolovaná restrikční kardiomyopatie | Familiární nebo idiopatická restrikční kardiomyopatie |
| uk | Сімейна ізольована рестриктивна кардіоміопатія | Сімейна або ідіопатична рестриктивна кардіоміопатія |
| zh | 家族性孤立型限制性心肌病 | 家族性或孤立型限制性心肌病 |
| tr | Ailesel izole kısıtlayıcı kardiyomiyopati | Ailesel veya idiyopatik kısıtlayıcı kardiyomiyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115210 | BTNT | validated | |
| OMIM | 609578 | BTNT | validated | |
| OMIM | 612422 | BTNT | validated | |
| OMIM | 615248 | NTBT | validated | |
| OMIM | 617047 | NTBT | validated | |
| OMIM | 619433 | BTNT | validated | |
| ICD-10 | I42.5 | E | specific | validated |
| ICD-11 | BC43.2Y | NTBT | index | validated |
| MONDO | 0019150 | E | validated | |
| UMLS | C5680139 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:217635Familial restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99985OBSOLETE: Familial restrictive cardiomyopathy type 1 referred to · inactive
- ORPHA:99986OBSOLETE: Familial restrictive cardiomyopathy type 2 referred to · inactive
- ORPHA:218432OBSOLETE: Familial restrictive cardiomyopathy type 3 referred to · inactive
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF20A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9787 | ENSG00000112984 | 605664 | 5q31.2 | kinesin family member 20A | 29357359[PMID] |
| FLNC | Disease-causing germline mutation(s) in | Assessed | HGNC:3756 | ENSG00000128591 | 102565 | 7q32.1 | filamin C | 26666891[PMID] |
| MYPN | Disease-causing germline mutation(s) in | Assessed | HGNC:23246 | ENSG00000138347 | 608517 | 10q21.3 | myopalladin | 22286171[PMID] |
| TNNI3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11947 | ENSG00000129991 | 191044 | 19q13.42 | troponin I3, cardiac type | 12531876[PMID] |
| TNNT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11949 | ENSG00000118194 | 191045 | 1q32.1 | troponin T2, cardiac type | 16651346[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | 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.
6
HPO phenotypes
20 annotations · validated 2020-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| Frequent (79-30%) | ||
| HP:0031329 | Interstitial cardiac fibrosis | |
| HP:0031295 | Left atrial enlargement | |
| HP:0030950 | Pulmonary venous hypertension | |
| HP:0030718 | Right atrial enlargement | |
| Occasional (29-5%) | ||
| HP:0005110 | Atrial fibrillation | |
| HP:0002094 | Dyspnea | |
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001653 | Mitral regurgitation | |
| HP:0012764 | Orthopnea | |
| HP:0012398 | Peripheral edema | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0100598 | Pulmonary edema | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0005115 | Supraventricular arrhythmia | |
| HP:0005180 | Tricuspid regurgitation | |
| Very rare (<4-1%) | ||
| HP:0001297 | Stroke | |
| HP:0001279 | Syncope | |
| HP:0001907 | Thromboembolism | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28912187[PMID]_15542407[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75249
- This record as JSON: /data/d/75249.json