ORPHA:871
Hereditary progressive cardiac conduction defect
Synonyms: Hereditary Lenègre disease · Hereditary Lev disease · Hereditary Lev-Lenègre disease · Hereditary PCCD · Hereditary bundle branch defect · Hereditary progressive heart block
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary progressive cardiac conduction defect | Hereditary Lenègre disease · Hereditary Lev disease · Hereditary Lev-Lenègre disease · Hereditary PCCD · Hereditary bundle branch defect · Hereditary progressive heart block |
| fr | Trouble héréditaire progressif de la conduction cardiaque | Bloc cardiaque progressif héréditaire · Maladie de Lenègre héréditaire · Maladie de Lev héréditaire · Maladie de Lev-Lenègre héréditaire · PCCD héréditaire |
| de | Familiäre progressive kardiale Reizleitungsstörungen | Hereditäre Lev-Lenègre-Krankheit · Hereditärer Schenkelblock · Herzblock, familiärer progressiver · Lenègre-Krankheit · PCCD, familiäre Form |
| es | Trastorno progresivo hereditario de la conducción cardíaca | Bloqueo cardíaco progresivo hereditario · Enfermedad de Lenègre hereditaria · Enfermedad de Lev hereditaria · Enfermedad de Lev-Lenègre hereditaria · PCCD hereditario · Trastorno hereditario de la rama del haz de His |
| it | Difetto progressivo familiare della conduzione cardiaca | Blocco cardiaco di branca ereditario · Blocco cardiaco familiare progressivo · Malattia di Lenègre familiare · Malattia di Lev familiare · Malattia di Lev-Lenègre familiare · PCCD familiare |
| nl | Hereditair progressief hartgeleidingsdefect | Erfelijk bundeltakblok · Erfelijk progressief hartblok · Erfelijke ziekte van Lenègre · Erfelijke ziekte van Lev · Erfelijke ziekte van Lev-Lenègre · Hereditair PCCD |
| pt | Defeito de condução cardíaca progressivo hereditário | Bloqueio cardíaco progressivo hereditário · Defeito hereditário do ramo do feixe cardíaco · Doença Lenègre hereditária · Doença Lev hereditária · Doença Lev-Lenègre hereditária · PCCD hereditária |
| pl | Rodzinny postępujący blok serca | Rodzinny postępujący blok serca · Dziedziczna wada odnogi pęczka Hissa · Rodzinna choroba Lenegre'a · Rodzinna choroba Leva · Rodzinna choroba Leva i Lenegre'a · Rodzinny PCCD |
| cs | Familiární progresivní převodní porucha | Familiární Lenègrova nemoc · Familiární Levova nemoc · Familiární Levova-Lenégrova nemoc · Familiární PCCD · Familiární progresivní srdeční blokáda · Dědičná vada raménka · Familiární Lev-Lenégrova nemoc |
| uk | Сімейна прогресуюча вада серцевої провідності | Сімейна хвороба Ленегре · Сімейна хвороба Лева · Сімейна хвороба Лева-Ленегре · Сімейний PCCD · Сімейна прогресуюча блокада серця · Спадковий дефект гілок пучка |
| zh | 家族性进行性心脏传导阻滞 | 家族性进行性心脏传导阻滞 |
| tr | Ailesel ilerleyici kardiyak iletim defekti | Ailesel PCCD · Ailesel Lev hastalığı · Ailesel Lenègre hastalığı · Ailesel Lev-Lenègre hastalığı · Kalıtsal demet dal defekti · Ailesel ilerleyici kalp bloğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113900 | E | validated | |
| OMIM | 115080 | NTBT | validated | |
| OMIM | 140400 | BTNT | validated | |
| OMIM | 604559 | BTNT | validated | |
| OMIM | 612838 | NTBT | validated | |
| ICD-10 | I45.8 | NTBT | attributed | validated |
| ICD-11 | BC63.Y | NTBT | index | validated |
| MONDO | 0019490 | E | validated | |
| MeSH | C566873 | E | validated | |
| UMLS | C1879286 | E | validated | |
| GARD | 10005 | 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 (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPM4 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:17993 | ENSG00000130529 | 606936 | 19q13.33 | transient receptor potential cation channel subfamily M member 4 | 19726882[PMID]_20562447[PMID] |
| SCN1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10586 | ENSG00000105711 | 600235 | 19q13.11 | sodium voltage-gated channel beta subunit 1 | 18464934[PMID] |
| SCN5A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | 12598077[PMID]_19251209[PMID]_22717692[PMID] |
| NKX2-5 | Modifying germline mutation in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 22179962[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0011675 | Arrhythmia | |
| HP:0011710 | Bundle branch block | |
| HP:0001635 | Congestive heart failure | |
| HP:0002094 | Dyspnea | |
| HP:0012722 | Heart block | |
| HP:0001279 | Syncope | |
| HP:0002321 | Vertigo | |
Annotation source: 23851511[PMID]_5806048[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/871
- This record as JSON: /data/d/871.json