ORPHA:530849

Familial apolipoprotein A5 deficiency

Synonyms: Familial APOA5 deficiency · Familial apolipoprotein A-V deficiency

This disease is described under Familial chylomicronemia syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial apolipoprotein A5 deficiency	Familial APOA5 deficiency · Familial apolipoprotein A-V deficiency
fr	Déficit familial en apolipoprotéine A5	Déficit familial en apolipoprotéine A-V
de	Familiärer Apolipoprotein A5-Mangel	Familiäre APOA5-Defizienz · Familiäre Apolipoprotein-A-V-Defizienz · Familiärer APOA5-Mangel · Familiärer Apolipoprotein A-V-Mangel
es	Deficiencia de apolipoproteína A5 familiar	Deficiencia de APOA5 familiar · Deficiencia de apolipoproteína A-V familiar
it	Chilomicronemia familiare a esordio nell'età adulta
nl	Familiale apolipoproteïne A5-deficiëntie	Familiale APOA5-deficiëntie · Familiale apolipoproteïne A-V-deficiëntie
pt	Deficiência de apolipoproteína A5 familiar
pl	Niedobór rodzinny apolipoproteiny A5	Rodzinny niedobór APOA5
cs	Familiární deficit apolipoproteinu A5	= en
uk	Сімейний дефіцит аполіпопротеїну А5	Сімейний дефіцит APOA5 · Сімейний дефіцит аполіпопротеїнів A-V
zh	家族性载脂蛋白A5缺乏症	Familial apolipoprotein A-V deficiency
tr	Ailesel apolipoprotein A5 eksikliği	Ailesel APOA5 eksikliği · Ailesel apolipoprotein A-V eksikliği

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	144650	BTNT		validated
OMIM	145750	BTNT		validated
ICD-10	E78.3	NTBT	attributed	validated
MONDO	0007762	E		validated
UMLS	C5680141	E		validated
GARD	6704	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:444490Familial chylomicronemia syndrome
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
APOA5	Disease-causing germline mutation(s) in	Assessed	HGNC:17288	ENSG00000110243	606368	11q23.3	apolipoprotein A5	25732519[PMID]_29980054[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_25732519[PMID]
Cases/families		3 families	Worldwide	Family(ies)	Validated	25732519[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.

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