ORPHA:98873
Congenital dyserythropoietic anemia type II
Synonyms: CDA II · CDA type 2 · CDA type II · Congenital dyserythropoietic anemia type 2 · Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) · SEC23B-CDG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal
- Status
- active
A form of congenital dyserythropoietic anemia characterized by anemia, jaundice, splenomegaly, gallstones, and often iron overload.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital dyserythropoietic anemia type II | CDA II · CDA type 2 · CDA type II · Congenital dyserythropoietic anemia type 2 · Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) · SEC23B-CDG |
| fr | Anémie dysérythropoïétique congénitale type II | Anémie dysérythropoïétique congénitale type 2 · CDA II · CDA type 2 · CDA type II · HEMPAS · Multinucléarité érythroblastique héréditaire avec test de lyse positif dans un sérum acidifié · SEC23B-CDG |
| de | Anämie, dyserythropoetische, kongenitale, Typ II | CDA II · CDA Typ 2 · CDA Typ II · Hereditäre erythroblastische Multinuklearität mit positivem Säure-Serumtest (HEMPAS) · Kongenitale dyserythropoetische Anämie Typ 2 · SEC23B-CDG |
| es | Anemia diseritropoyética congénita tipo II | Anemia diseritropoyética congénita tipo 2 · CDA II · CDA tipo 2 · CDA tipo II · HEMPAS · Multinuclearidad eritroblástica hereditaria con prueba de suero acidificado positiva · SEC23B-CDG |
| it | Anemia diseritropoietica congenita, tipo II | CDA II · CDA, tipo 2 · CDA, tipo II · Multinuclearità eritroblastica ereditaria con positività del test del siero acidificato (hempas) · SEC23B-CDG · Sindrome SEC23B-CDG · Anemia diseritropoietica congenita, tipo 2 |
| nl | Congenitale dyserytropoëtische anemie type II | CDA II · CDA type 2 · CDA type II · Congenitale dyserytropoëtische anemie type 2 · Hereditaire erytroblastische multinucleariteit met een positieve aangezuurde serumtest (HEMPAS) · SEC23B-CDG |
| pt | Anemia diseritropoiética congénita tipo II | Anemia diseritropoiética congénita tipo 2 |
| pl | Wrodzona niedokrwistość dyserytopoetyczna typu II | CDA II · CDA typu 2 · CDA typu II · SEC23B-CDG · Wrodzona erytroblastyczna wielojąderkowość z dodatnim testem kwasowości (hempas) · Wrodzona niedokrwistość dyserytopoetyczna typu 2 |
| cs | Vrozená dyserytropoetická anémie, typ II | CDA II · CDA typ 2 · CDA typ II · Vrozená dyserytropoetická anémie, typ 2 · SEC23B-CDG · Hereditání erytroblastická dyserytropoéza s pozitivním sérum acidifikačním testem (hempas) |
| uk | Вроджена дизеритропоетична анемія, тип ІІ | CDA II · CDA тип 2 · CDA тип II · Вроджена дизеритропоетична анемія 2 типу · Спадкова еритробластична багатоядерність з позитивним тестом на підкислену сироватку крові (гемобластози) · SEC23B-CDG |
| zh | 先天性红细胞生成障碍性贫血II型 | 酸化血清试验阳性遗传性红细胞多核（HEMPAS） |
| tr | Doğumsal dizeritropoietik anemi tip II | CDA II · CDA tip 2 · SEC23B-CDG · CDA tip II · Doğumsal dizeritropoietik anemi tip 2 · Pozitif asitleştirilmiş serum testi (hempas) ile seyreden kalıtsal eritroblastik multinükleerlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224100 | E | validated | |
| ICD-10 | D64.4 | NTBT | attributed | validated |
| ICD-11 | 3A73 | NTBT | index | validated |
| MONDO | 0009134 | E | validated | |
| UMLS | C1306589 | E | validated | |
| GARD | 2001 | 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 (2):
- ORPHA:85Congenital dyserythropoietic anemia
rare genetic diseases; rare hematological diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEC23B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10702 | ENSG00000101310 | 610512 | 20p11.23 | SEC23 homolog B, COPII component |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | 20665989[PMID] |
| Cases/families | 377 cases | Europe | Case(s) | Validated | 20665989[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
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/98873
- This record as JSON: /data/d/98873.json