ORPHA:726824
Hepatorenocardiac degenerative fibrosis
Synonyms: HRCDF
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hepatorenocardiac degenerative fibrosis | HRCDF |
| fr | Fibrose dégénérative hépato-réno-cardiaque | |
| de | Hepato-reno-kardiale degenerative Fibrose | = en |
| es | Fibrosis degenerativa hepatorrenocardíaca | = en |
| it | Fibrosi degenerativa epato-reno-cardiaca | = en |
| nl | Hepatorenocardiale degeneratieve fibrose | = en |
| pt | Hepatorenocardiac degenerative fibrosis | |
| pl | Hepatorenocardiac degenerative fibrosis | = en |
| cs | Hepatorenocardiac degenerative fibrosis | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619902 | 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 (5):
- ORPHA:363250Ciliopathy
rare genetic diseases - ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TULP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12425 | ENSG00000078246 | 604730 | 12p13.33 | TUB like protein 3 | 35397207[PMID]_40579123[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/726824
- This record as JSON: /data/d/726824.json