ORPHA:181428

Familial Hyperalphalipoproteinemia

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial Hyperalphalipoproteinemia
fr	Hyperalphalipoprotéinémie familiale
de	Hyperalphalipoproteinämie, familiäre
es	Hiperalfalipoproteinemia familiar
it	Iperalfalipoproteinemia familiare
nl	Familiale hyperalfalipoproteïnemie
pt	Hiperalfalipoproteinemia
pl	Rodzinna hiperalfalipoproteinemia
cs	Hyperalfalipoproteinémie
uk	Гіперальфаліпопротеїнемія
zh	高α-脂蛋白血症
tr	Hiperalfalipoproteinemi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	143470	BTNT		validated
OMIM	610762	BTNT		validated
OMIM	614028	BTNT		validated
ICD-10	E78.4	NTBT	attributed	validated
ICD-11	5C80.3	E	specific	validated
MONDO	0015903	E		validated
UMLS	C0342883	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:181422Rare hyperlipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases

No children.

Codes that Orphanet moved or referred to this one:

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
APOC3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:610	ENSG00000110245	107720	11q23.3	apolipoprotein C3	23701270[PMID]
CETP	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1869	ENSG00000087237	118470	16q13	cholesteryl ester transfer protein	34207236[PMID]
SCARB1	Disease-causing germline mutation(s) in	Assessed	HGNC:1664	ENSG00000073060	601040	12q24.31	scavenger receptor class B member 1	21480869[PMID]

0 records

No prevalence record in this release.

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