ORPHA:707792

Unstable gamma 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 gamma globin chain variant disease
fr	Anémie par hémoglobine instable due à la chaîne gamma globine
de	Instabile Gamma-Globinketten-Variante
es	Enfermedad por inestabilidad de la variante de la cadena de globina gamma inestable
it	Malattia da variante instabile della catena della gamma globina
nl	Ziektevariant door onstabiele gammaglobineketen
pt	Unstable gamma globin chain variant disease
pl	Choroba z niestabilnym wariantem łańcucha gamma-globiny
cs	Unstable gamma 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 (2):

ORPHA:466066Genetic hemoglobinopathy
rare genetic diseases
ORPHA:68364Hemoglobinopathy
rare hematological diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HBG2	Disease-causing germline mutation(s) in	Assessed	HGNC:4832	ENSG00000196565	142250	11p15.4	hemoglobin subunit gamma 2	24483321[PMID]_31985299[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	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.