ORPHA:309020

Familial apolipoprotein C-II deficiency

Synonyms: Familial APOC2 deficiency · Familial apoC-II deficiency

This disease is described under Familial chylomicronemia syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial apolipoprotein C-II deficiency	Familial APOC2 deficiency · Familial apoC-II deficiency
fr	Déficit familial en apolipoprotéine C-II	Déficit familial en apoC-II · Déficit familial en apoC2
de	Apolipoprotein CII-Mangel, familiärer	Familiärer APOC2-Mangel · Familiärer ApoC-II-Mangel
es	Deficiencia familiar de apolipoproteína C-II	Deficiencia familiar de apoC-II
it	Deficit familiare di apolipoproteina C-II	Deficit di apoC-II
nl	Familiale deficiëntie van apolipoproteïne C-II	Familiale APOC2-deficiëntie · Familiale apoC-II-deficiëntie
pt	Défice familiar de apolipoproteína C-II
pl	Rodzinny niedobór apolipoproteiny C-II	Rodzinny Niedobór apoC-II
cs	Familiární deficit apoliproteinu C-II	Familiární deficit apoC-II
uk	Сімейний дефіцит аполіпопротеїну C-II	Сімейний дефіцит APOC2 · Сімейний дефіцит апоС-ІІ
zh	家族性载脂蛋白C-II缺乏症	家族性载脂蛋白C-II缺乏症
tr	Ailesel apolipoprotein C-II eksikliği	Ailesel APOC2 eksikliği · Ailesel apoC-II eksikliği

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	207750	E		validated
ICD-10	E78.3	NTBT	attributed	validated
ICD-11	5C80.1	NTBT	index	validated
MONDO	0008810	E		validated
UMLS	C0268199	E		validated
GARD	759	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
APOC2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:609	ENSG00000234906	608083	19q13.32	apolipoprotein C2	24589565[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		10 families	Worldwide	Family(ies)	Validated	25732519[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_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.