ORPHA:822
Hereditary spherocytosis
Synonyms: Minkowski-Chauffard disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary spherocytosis | Minkowski-Chauffard disease |
| fr | Sphérocytose héréditaire | Maladie de Minkowski-Chauffard |
| de | Sphärozytose, hereditäre | Kugelzellenanämie · Minkowski-Chauffard-Syndrom |
| es | Esferocitosis hereditaria | Enfermedad de Minkowski-Chauffard |
| it | Sferocitosi ereditaria | Sindrome di Minkowski-Chauffard |
| nl | Hereditaire sferocytose | Erfelijke sferocytose · Ziekte van Minkowski-Chauffard |
| pt | Esferocitose hereditária | |
| pl | Sferocytoza dziedziczna | Choroba Minkowskiego i Chauffarda |
| cs | Hereditární sférocytóza | Minkowskiho-Chauffardova nemoc · Minkowski-Chauffardova nemoc |
| uk | Спадковий сфероцитоз | Хвороба Мінковського-Шоффара |
| zh | 遗传性球形红细胞增多症 | Minkowski-Chauffard病 |
| tr | Kalıtsal sferositoz | Minkowski-Chauffard hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182900 | E | validated | |
| OMIM | 270970 | BTNT | validated | |
| OMIM | 612653 | BTNT | validated | |
| OMIM | 612690 | BTNT | validated | |
| OMIM | 616649 | BTNT | validated | |
| ICD-10 | D58.0 | E | specific | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0019350 | E | validated | |
| MeSH | D013103 | E | validated | |
| UMLS | C0037889 | E | validated | |
| GARD | 6639 | E | validated | |
| MedDRA | 10019904 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98364Rare constitutional hemolytic anemia due to a red cell membrane anomaly
rare genetic diseases; rare hematological diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:492 | ENSG00000029534 | 612641 | 8p11.21 | ankyrin 1 | 23664421[PMID] |
| EPB42 | Disease-causing germline mutation(s) in | Assessed | HGNC:3381 | ENSG00000166947 | 177070 | 15q15.2 | erythrocyte membrane protein band 4.2 | 23664421[PMID] |
| SLC4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11027 | ENSG00000004939 | 109270 | 17q21.31 | solute carrier family 4 member 1 (Diego blood group) | 23664421[PMID] |
| SPTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11272 | ENSG00000163554 | 182860 | 1q23.1 | spectrin alpha, erythrocytic 1 | 23664421[PMID] |
| SPTB | Disease-causing germline mutation(s) in | Assessed | HGNC:11274 | ENSG00000070182 | 182870 | 14q23.3 | spectrin beta, erythrocytic | 23664421[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 50 / 100 000 | Germany | Value and class | Validated | 1554800[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 20 / 100 000 | United States | Value and class | Validated | 14476391[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | [EXPERT]_1554800[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.
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HPO phenotypes
27 annotations · validated 2019-05-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005502 | Increased red cell osmotic fragility | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001081 | Cholelithiasis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0100724 | Hypercoagulability | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration | |
| HP:0000952 | Jaundice | |
| HP:0001324 | Muscle weakness | |
| HP:0000980 | Pallor | |
| HP:0001923 | Reticulocytosis | |
| HP:0004444 | Spherocytosis | |
| HP:0001744 | Splenomegaly | |
| HP:0005525 | Spontaneous hemolytic crises | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001251 | Ataxia | |
| HP:0025143 | Chills | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0001945 | Fever | |
| HP:0040186 | Maculopapular exanthema | |
| HP:0003326 | Myalgia | |
| HP:0001723 | Restrictive cardiomyopathy | |
| Very rare (<4-1%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001997 | Gout | |
| HP:0001510 | Growth delay | |
| HP:0200042 | Skin ulcer | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30511538[PMID]_30763822[PMID]_30969619[PMID]_28463670[PMID]_24624460[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/822
- This record as JSON: /data/d/822.json