ORPHA:707789

Unstable alpha globin chain variant disease

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Unstable alpha globin chain variant disease
fr	Anémie par hémoglobine instable due à la chaîne alpha globine
de	Instabile Alpha-Globinketten-Variante
es	Enfermedad por inestabilidad de la variante de la cadena de globina alfa inestable
it	Malattia da variante instabile della catena dellalfa globina
nl	Ziektevariant door onstabiele alfaglobineketen
pt	Unstable alpha globin chain variant disease
pl	Choroba z niestabilnym wariantem łańcucha alfa-globiny
cs	Unstable alpha globin chain variant disease

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	D58.2	NTBT	attributed	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:275745Alpha-thalassemia and related disorders
rare genetic diseases; rare hematological diseases; rare transplant-related disorders

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HBA1	Disease-causing germline mutation(s) in	Assessed	HGNC:4823	ENSG00000206172	141800	16p13.3	hemoglobin subunit alpha 1	28696843[PMID]
HBA2	Disease-causing germline mutation(s) in	Assessed	HGNC:4824	ENSG00000188536	141850	16p13.3	hemoglobin subunit alpha 2	25212678[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

Orphanet has no HPO annotation for this code in this release.