ORPHA:2132
Hemoglobin C disease
Synonyms: HbCC disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin C disease | HbCC disease |
| fr | Hémoglobinose C | HbCC |
| de | Hämoglobin-C-Krankheit | HbCC-Krankheit |
| es | Enfermedad de la hemoglobina C | Enfermedad HbCC |
| it | Emoglobinopatia C | |
| nl | Hemoglobine C-ziekte | HbCC-ziekte |
| pt | Doença de hemoglobina C | Doença HbCC |
| pl | Choroba hemoglobiny C | = en |
| cs | Hemoglobinopatie s hemoglobinem C | = en |
| uk | Хвороба гемоглобіну С | |
| zh | 血红蛋白C病 | |
| tr | Hemoglobin C hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D58.2 | NTBT | attributed | validated |
| ICD-11 | 3A51.5 | NTBT | index | validated |
| MONDO | 0016242 | E | validated | |
| MeSH | D006445 | E | validated | |
| UMLS | C0019021 | E | validated | |
| GARD | 2640 | E | validated | |
| MedDRA | 10018883 | 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:466066Genetic hemoglobinopathy
rare genetic diseases - ORPHA:68364Hemoglobinopathy
rare hematological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBB | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 21886666[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 166.66 / 100 000 | United States | Value and class | Validated | 23591685[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.65 / 100 000 | Belgium | Value and class | Validated | 19103861[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2132
- This record as JSON: /data/d/2132.json