Hereditary elliptocytosis
Synonyms: HE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary elliptocytosis | HE |
| fr | Elliptocytose familiale | EH · Elliptocytose héréditaire |
| de | Elliptozytose, hereditäre | = en |
| es | Eliptocitosis hereditaria | = en |
| it | Ellissocitosi ereditaria | = en |
| nl | Erfelijke elliptocytose | = en |
| pt | Eliptocitose hereditária | |
| pl | Eliptocytoza dziedziczna | = en |
| cs | Dědičná eliptocytóza | = en |
| uk | Спадковий еліптоцитоз | = en |
| zh | 遗传性椭圆形红细胞增多症 | = en |
| tr | Kalıtsal elliptositoz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130600 | BTNT | validated | |
| OMIM | 235370 | BTNT | validated | |
| OMIM | 611804 | BTNT | validated | |
| OMIM | 617948 | BTNT | validated | |
| ICD-10 | D58.1 | E | specific | validated |
| ICD-11 | 3A10.2 | E | specific | validated |
| MONDO | 0017319 | E | validated | |
| MeSH | D004612 | E | validated | |
| UMLS | C0013902 | E | validated | |
| GARD | 6621 | E | validated | |
| MedDRA | 10014490 | 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):
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:98864Common hereditary elliptocytosis moved to · inactive
- ORPHA:98865Homozygous hereditary elliptocytosis moved to · inactive
- ORPHA:98866OBSOLETE: Spherocytic elliptocytosis referred to · inactive
- ORPHA:98867Hereditary pyropoikilocytosis moved to · inactive
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPB41 | Disease-causing germline mutation(s) in | Assessed | HGNC:3377 | ENSG00000159023 | 130500 | 1p35.3 | erythrocyte membrane protein band 4.1 | 23664421[PMID] |
| GYPC | Disease-causing germline mutation(s) in | Assessed | HGNC:4704 | ENSG00000136732 | 110750 | 2q14.3 | glycophorin C (Gerbich blood group) | 1884026[PMID]_8353290[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] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Validated | [EXPERT] |
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
23 annotations · validated 2019-05-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001877 | Abnormal erythrocyte morphology | |
| Frequent (79-30%) | ||
| HP:0004445 | Elliptocytosis | |
| HP:0005502 | Increased red cell osmotic fragility | |
| Occasional (29-5%) | ||
| HP:0004804 | Congenital hemolytic anemia | |
| HP:0003546 | Exercise intolerance | |
| HP:0012378 | Fatigue | |
| HP:0001878 | Hemolytic anemia | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0000952 | Jaundice | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0004447 | Poikilocytosis | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0001923 | Reticulocytosis | |
| HP:0200042 | Skin ulcer | |
| HP:0001744 | Splenomegaly | |
| HP:0004446 | Stomatocytosis | |
| Very rare (<4-1%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0025143 | Chills | |
| HP:0001081 | Cholelithiasis | |
| HP:0001945 | Fever | |
| HP:0002007 | Frontal bossing | |
| HP:0001789 | Hydrops fetalis | |
| HP:0008897 | Postnatal growth retardation | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32966004[PMID]_30369757[PMID]_23664421[PMID]_27667160[PMID]_3818958[PMID]_3708157[PMID]_3801663[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/288
- This record as JSON: /data/d/288.json