ORPHA:88

Idiopathic aplastic anemia

Synonyms: Idiopathic bone marrow failure

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Idiopathic aplastic anemia	Idiopathic bone marrow failure
fr	Aplasie médullaire idiopathique
de	Aplastische Anämie, idiopathische	Knochenmarkaplasie, idiopathische
es	Anemia aplásica idiopática	Fallo idiopático de la médula ósea
it	Anemia aplastica idiopatica	Insufficienza idiopatia del midollo osseo
nl	Idiopathische aplastische anemie	Idiopathisch beenmergfalen
pt	Falência da medula óssea
pl	Idiopatyczna niedokrwistość aplastyczna	Niewydolność szpiku kostnego
cs	Idiopatická aplastická anémie	Idiopatické selhání kostní dřeně
uk	Ідіопатична апластична анемія	Ідіопатична недостатність кісткового мозку
zh	特发性再生障碍性贫血	特发性骨髓衰竭性疾病
tr	İdiyopatik aplastik anemi	İdiyopatik kemik iliği yetmezliği

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609135	E		validated
ICD-10	D61.3	E	specific	validated
ICD-11	3A70.12	E	specific	validated
MONDO	0012197	E		validated
MeSH	C538494	E		validated
UMLS	C0348890	E		validated
MedDRA	10054580	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:164823Rare acquired aplastic anemia
rare hematological diseases; rare transplant-related disorders

No children.

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
IFNG	Major susceptibility factor in	Assessed	HGNC:5438	ENSG00000111537	147570	12q15	interferon gamma	15327519[PMID]
PRF1	Major susceptibility factor in	Assessed	HGNC:9360	ENSG00000180644	170280	10q22.1	perforin 1	17311987[PMID]
SBDS	Major susceptibility factor in	Assessed	HGNC:19440	ENSG00000126524	607444	7q11.21	SBDS ribosome maturation factor	17478638[PMID]
TERC	Major susceptibility factor in	Assessed	HGNC:11727	ENSG00000270141	602322	3q26.2	telomerase RNA component	12090986[PMID]
TERT	Major susceptibility factor in	Assessed	HGNC:11730	ENSG00000164362	187270	5p15.33	telomerase reverse transcriptase	16627250[PMID]_16990594[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.4 / 100 000	Europe	Value and class	Not yet validated	ORPHANET
Annual incidence	1-9 / 1 000 000	0.27 / 100 000	Brazil	Value and class	Validated	35209917[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.

12 annotations · validated 2019-05-17

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0001903	Anemia
Very frequent (99-80%)
HP:0005528	Bone marrow hypocellularity
Frequent (79-30%)
HP:0001876	Pancytopenia
HP:0001896	Reticulocytopenia
Occasional (29-5%)
HP:0001875	Decreased total neutrophil count
HP:0031364	Ecchymosis
HP:0000421	Epistaxis
HP:0000225	Gingival bleeding
HP:0002719	Recurrent infections
HP:0000573	Retinal hemorrhage
HP:0001873	Thrombocytopenia
Excluded (0%)
HP:0030057	Autoimmune antibody positivity

Annotation source: 17214739[PMID]_24790407[PMID]_24424170[PMID]