ORPHA:154

Familial isolated dilated cardiomyopathy

Synonyms: Familial or idiopathic dilated cardiomyopathy

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
Age of onset: All ages
Status: active

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial isolated dilated cardiomyopathy	Familial or idiopathic dilated cardiomyopathy
fr	Cardiomyopathie dilatée familiale isolée	Cardiomyopathie dilatée idiopathique ou familiale
de	Kardiomyopathie, dilatative familiäre
es	Miocardiopatía dilatada familiar aislada
it	Cardiomiopatia dilatativa familiare isolata
nl	Familiale geïsoleerde gedilateerde cardiomyopathie
pt	Miocardiopatia dilatada isolada familiar
pl	Rodzinna lub idiopatyczna kardiomiopatia rozstrzeniowa	Rodzinna izolowana kardiomiopatia rozstrzeniowa
cs	Izolovaná familiární dilatační kardiomyopatie	Familiární idiopatická dilatační kardiomyopatie
uk	Сімейна ізольована дилатаційна кардіоміопатія	Сімейна або ідіопатична дилатаційна кардіоміопатія
zh	家族性孤立型扩张型心肌病	家族性或特发性扩张型心肌病
tr	Ailesel izole dilate kardiyomiyopati	Ailesel veya idiyopatik dilate kardiyomiyopati

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	115200	BTNT		validated
OMIM	302045	BTNT		validated
OMIM	600884	BTNT		validated
OMIM	601154	NTBT		validated
OMIM	601493	BTNT		validated
OMIM	601494	BTNT		validated
OMIM	604145	BTNT		validated
OMIM	604288	BTNT		validated
OMIM	604765	BTNT		validated
OMIM	605582	BTNT		validated
OMIM	606685	BTNT		validated
OMIM	607482	BTNT		validated
OMIM	608569	BTNT		validated
OMIM	609909	BTNT		validated
OMIM	609915	BTNT		validated
OMIM	611407	BTNT		validated
OMIM	611615	BTNT		validated
OMIM	611878	BTNT		validated
OMIM	611879	BTNT		validated
OMIM	611880	BTNT		validated
OMIM	612158	BTNT		validated
OMIM	612877	BTNT		validated
OMIM	613122	BTNT		validated
OMIM	613172	BTNT		validated
OMIM	613252	BTNT		validated
OMIM	613286	BTNT		validated
OMIM	613424	BTNT		validated
OMIM	613426	BTNT		validated
OMIM	613642	BTNT		validated
OMIM	613694	BTNT		validated
OMIM	613697	BTNT		validated
OMIM	613881	BTNT		validated
OMIM	614672	BTNT		validated
OMIM	615184	BTNT		validated
OMIM	615235	BTNT		validated
OMIM	615248	BTNT		validated
OMIM	615373	NTBT		validated
OMIM	615396	NTBT		validated
OMIM	615916	BTNT		validated
OMIM	617047	NTBT		validated
OMIM	618189	BTNT		validated
OMIM	619371	BTNT		validated
OMIM	619492	BTNT		validated
OMIM	619747	BTNT		validated
OMIM	619897	BTNT		validated
OMIM	620203	BTNT		validated
OMIM	620462	BTNT		validated
OMIM	621595	BTNT		validated
ICD-10	I42.0	NTBT	attributed	validated
ICD-11	BC43.00	NTBT	index	validated
MONDO	0015470	E		validated
MONDO	15470	E		validated
MONDO	700335	E		validated
UMLS	C5679590	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97929Rare cardiac disease

Parents in the classifications (3):

ORPHA:217607Familial dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases
ORPHA:207085Qualitative or quantitative defects of dystrophin
rare genetic diseases
ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders

No children.

Genes

55 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SCN5A	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:10593	ENSG00000183873	600163	3p22.2	sodium voltage-gated channel alpha subunit 5	15466643[PMID]_22766342[PMID]_20301486[PMID]
BAG5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:941	ENSG00000166170	603885	14q32.33	BAG cochaperone 5	35044787[PMID]
DOLK	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:23406	ENSG00000175283	610746	9q34.11	dolichol kinase	22242004[PMID]
GET3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:752	ENSG00000198356	601913	19p13.13	guided entry of tail-anchored proteins factor 3, ATPase	31461301[PMID]
HAND2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4808	ENSG00000164107	602407	4q34.1	heart and neural crest derivatives expressed 2	30217752[PMID]
NEXN	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29557	ENSG00000162614	613121	1p31.1	nexilin F-actin binding protein	19881492[PMID]_20301486[PMID]
TXNRD2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18155	ENSG00000184470	606448	22q11.21	thioredoxin reductase 2	21247928[PMID]
ABCC9	Disease-causing germline mutation(s) in	Assessed	HGNC:60	ENSG00000069431	601439	12p12.1	ATP binding cassette subfamily C member 9	15034580[PMID]
ACTC1	Disease-causing germline mutation(s) in	Assessed	HGNC:143	ENSG00000159251	102540	15q14	actin alpha cardiac muscle 1	9563954[PMID]_20301486[PMID]
ACTN2	Disease-causing germline mutation(s) in	Assessed	HGNC:164	ENSG00000077522	102573	1q43	actinin alpha 2	14567970[PMID]_25224718[PMID]_20301486[PMID]
ANKRD1	Disease-causing germline mutation(s) in	Assessed	HGNC:15819	ENSG00000148677	609599	10q23.31	ankyrin repeat domain 1	19525294[PMID]_20301486[PMID]
BAG3	Disease-causing germline mutation(s) in	Assessed	HGNC:939	ENSG00000151929	603883	10q26.11	BAG cochaperone 3	21353195[PMID]_20301486[PMID]
C10ORF71	Disease-causing germline mutation(s) in	Assessed	HGNC:26973	ENSG00000177354	621202	10q11.23	chromosome 10 open reading frame 71	38950288[PMID]
CAP2	Disease-causing germline mutation(s) in	Assessed	HGNC:20039	ENSG00000112186	618385	6p22.3	cyclase associated actin cytoskeleton regulatory protein 2	30518548[PMID]
CRYAB	Disease-causing germline mutation(s) in	Assessed	HGNC:2389	ENSG00000109846	123590	11q23.1	crystallin alpha B	16483541[PMID]_16793013[PMID]
CSRP3	Disease-causing germline mutation(s) in	Assessed	HGNC:2472	ENSG00000129170	600824	11p15.1	cysteine and glycine rich protein 3	14567970[PMID]_20301486[PMID]
DES	Disease-causing germline mutation(s) in	Assessed	HGNC:2770	ENSG00000175084	125660	2q35	desmin	10430757[PMID]_20301486[PMID]
DMD	Disease-causing germline mutation(s) in	Assessed	HGNC:2928	ENSG00000198947	300377	Xp21.2-p21.1	dystrophin	14567970[PMID]_20301486[PMID]
DSG2	Disease-causing germline mutation(s) in	Assessed	HGNC:3049	ENSG00000046604	125671	18q12.1	desmoglein 2	18678517[PMID]_20301486[PMID]
DSP	Disease-causing germline mutation(s) in	Assessed	HGNC:3052	ENSG00000096696	125647	6p24.3	desmoplakin	30993396[PMID]
FHL2	Disease-causing germline mutation(s) in	Assessed	HGNC:3703	ENSG00000115641	602633	2q12.2	four and a half LIM domains 2	17416352[PMID]
FKTN	Disease-causing germline mutation(s) in	Assessed	HGNC:3622	ENSG00000106692	607440	9q31.2	fukutin	17036286[PMID]
FLNC	Disease-causing germline mutation(s) in	Assessed	HGNC:3756	ENSG00000128591	102565	7q32.1	filamin C	28008423[PMID]
GATAD1	Disease-causing germline mutation(s) in	Assessed	HGNC:29941	ENSG00000157259	614518	7q21.2	GATA zinc finger domain containing 1	21965549[PMID]
JPH2	Disease-causing germline mutation(s) in	Assessed	HGNC:14202	ENSG00000149596	605267	20q13.12	junctophilin 2	31227780[PMID]
LAMA4	Disease-causing germline mutation(s) in	Assessed	HGNC:6484	ENSG00000112769	600133	6q21	laminin subunit alpha 4	17646580[PMID]
LDB3	Disease-causing germline mutation(s) in	Assessed	HGNC:15710	ENSG00000122367	605906	10q23.2	LIM domain binding 3	14662268[PMID]_14660611[PMID]_20301486[PMID]
LMNA	Disease-causing germline mutation(s) in	Assessed	HGNC:6636	ENSG00000160789	150330	1q22	lamin A/C	24846508[PMID]
LMOD2	Disease-causing germline mutation(s) in	Assessed	HGNC:6648	ENSG00000170807	608006	7q31.32	leiomodin 2	35082396[PMID]
MYBPC3	Disease-causing germline mutation(s) in	Assessed	HGNC:7551	ENSG00000134571	600958	11p11.2	myosin binding protein C3	20215591[PMID]_20301486[PMID]
MYH6	Disease-causing germline mutation(s) in	Assessed	HGNC:7576	ENSG00000197616	160710	14q11.2	myosin heavy chain 6	15998695[PMID]_20215591[PMID]_20301486[PMID]
MYH7	Disease-causing germline mutation(s) in	Assessed	HGNC:7577	ENSG00000092054	160760	14q11.2	myosin heavy chain 7	11106718[PMID]_20301486[PMID]
MYPN	Disease-causing germline mutation(s) in	Assessed	HGNC:23246	ENSG00000138347	608517	10q21.3	myopalladin	18006477[PMID]_22892539[PMID]
NRAP	Disease-causing germline mutation(s) in	Assessed	HGNC:7988			10q25.3	nebulin related anchoring protein	41033658[PMID]
PLN	Disease-causing germline mutation(s) in	Assessed	HGNC:9080	ENSG00000198523	172405	6q22.31	phospholamban	12610310[PMID]_20301486[PMID]
PPCS	Disease-causing germline mutation(s) in	Assessed	HGNC:25686	ENSG00000127125	609853	1p34.2	phosphopantothenoylcysteine synthetase	29754768[PMID]
PRDM16	Disease-causing germline mutation(s) in	Assessed	HGNC:14000	ENSG00000142611	605557	1p36.32	PR/SET domain 16	23768516[PMID]
PSEN1	Disease-causing germline mutation(s) in	Assessed	HGNC:9508	ENSG00000080815	104311	14q24.2	presenilin 1	17186461[PMID]_20301486[PMID]
PSEN2	Disease-causing germline mutation(s) in	Assessed	HGNC:9509	ENSG00000143801	600759	1q42.13	presenilin 2	17186461[PMID]_20301486[PMID]
RAF1	Disease-causing germline mutation(s) in	Assessed	HGNC:9829	ENSG00000132155	164760	3p25.2	Raf-1 proto-oncogene, serine/threonine kinase	24777450[PMID]
RBM20	Disease-causing germline mutation(s) in	Assessed	HGNC:27424	ENSG00000203867	613171	10q25.2	RNA binding motif protein 20	19712804[PMID]_20301486[PMID]
RPL3L	Disease-causing germline mutation(s) in	Assessed	HGNC:10351	ENSG00000140986	617416	16p13.3	ribosomal protein L3 like	32514796[PMID]
SDHA	Disease-causing germline mutation(s) in	Assessed	HGNC:10680	ENSG00000073578	600857	5p15.33	succinate dehydrogenase complex flavoprotein subunit A	20551992[PMID]
SGCD	Disease-causing germline mutation(s) in	Assessed	HGNC:10807	ENSG00000170624	601411	5q33.2-q33.3	sarcoglycan delta	10974018[PMID]_20301486[PMID]
TAF1A	Disease-causing germline mutation(s) in	Assessed	HGNC:11532	ENSG00000143498	604903	1q41	TATA-box binding protein associated factor, RNA polymerase I subunit A	28472305[PMID]
TAFAZZIN	Disease-causing germline mutation(s) in	Assessed	HGNC:11577	ENSG00000102125	300394	Xq28	tafazzin, phospholipid-lysophospholipid transacylase	7616547[PMID]_9382096[PMID]_20301486[PMID]
TCAP	Disease-causing germline mutation(s) in	Assessed	HGNC:11610	ENSG00000173991	604488	17q12	titin-cap	15582318[PMID]_19412328[PMID]_20301486[PMID]
TMPO	Disease-causing germline mutation(s) in	Assessed	HGNC:11875	ENSG00000120802	188380	12q23.1	thymopoietin	16247757[PMID]_20301486[PMID]
TNNC1	Disease-causing germline mutation(s) in	Assessed	HGNC:11943	ENSG00000114854	191040	3p21.1	troponin C1, slow skeletal and cardiac type	15542288[PMID]_20301486[PMID]
TNNI3	Disease-causing germline mutation(s) in	Assessed	HGNC:11947	ENSG00000129991	191044	19q13.42	troponin I3, cardiac type	15070570[PMID]_19590045[PMID]_20301486[PMID]
TNNT2	Disease-causing germline mutation(s) in	Assessed	HGNC:11949	ENSG00000118194	191045	1q32.1	troponin T2, cardiac type	11684629[PMID]_15542288[PMID]_20301486[PMID]
TPM1	Disease-causing germline mutation(s) in	Assessed	HGNC:12010	ENSG00000140416	191010	15q22.2	tropomyosin 1	11273725[PMID]_20301486[PMID]
TTN	Disease-causing germline mutation(s) in	Assessed	HGNC:12403	ENSG00000155657	188840	2q31.2	titin	11788824[PMID]_20301486[PMID]
VCL	Disease-causing germline mutation(s) in	Assessed	HGNC:12665	ENSG00000035403	193065	10q22.2	vinculin	11815424[PMID]_20301486[PMID]
VEZF1	Disease-causing germline mutation(s) in	Assessed	HGNC:12949	ENSG00000136451	606747	17q22	vascular endothelial zinc finger 1	36657711[PMID]

Prevalence and incidence

3 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	2.91 / 100 000	Europe	Value and class	Validated	16839424[PMID]_[EXPERT]_ ORPHANET
Point prevalence	1-5 / 10 000	17.5 / 100 000	Europe	Value and class	Validated	16839424[PMID]_[EXPERT]_ ORPHANET
Annual incidence	1-9 / 100 000	6 / 100 000	United States	Value and class	Validated	2766509[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

13 annotations · validated 2023-08-10

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001644	Dilated cardiomyopathy
HP:0025169	Left ventricular systolic dysfunction
Frequent (79-30%)
HP:0011675	Arrhythmia
HP:0001635	Congestive heart failure
HP:0000969	Edema
HP:0002875	Exertional dyspnea
HP:0012378	Fatigue
HP:0012764	Orthopnea
Occasional (29-5%)
HP:0003457	EMG abnormality
HP:0100578	Lipoatrophy
HP:0003198	Myopathy
HP:0000407	Sensorineural hearing impairment
HP:0001727	Thromboembolic stroke

Run the differential on the 2 obligate / very frequent terms

Annotation source: 20301486[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/154
This record as JSON: /data/d/154.json