ORPHA:101050

Familial hypocalciuric hypercalcemia type 3

Synonyms: FHH type 3

This disease is described under Familial hypocalciuric hypercalcemia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial hypocalciuric hypercalcemia type 3	FHH type 3
fr	Hypercalcémie hypocalciurique familiale type 3	FHH type 3 · Syndrome de Marx type 3
de	Hyperkalzämie, familiäre hypokalziurische, Typ 3	FHH Typ 3
es	Hipercalcemia hipocalciúrica familiar tipo 3	FHH tipo 3
it	Ipercalcemia ipocalciurica familiare, tipo 3	FHH, tipo 3
nl	Familiale hypocalciurische hypercalciëmie type 3	= en
pt	Hipercalcemia hipocalciúrica, familiar, tipo 3
pl	Rodzinna hipokalcuria hiperkalcemiczna typu 3	= en
cs	Familiární hypokalciurická hyperkalcémie, typ 3	FHH, typ 3
uk	Сімейна гіпокальціурична гіперкальціємія, тип 3	FHH тип 3
zh	家族性低尿钙性高钙血症3型	FHH3型
tr	Ailesel hipokalsiürik hiperkalsemi tip 3	FHH tip 3

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	600740	E		validated
ICD-10	E83.5	NTBT	attributed	validated
ICD-11	5A51.2	NTBT	attributed	validated
MONDO	0010926	E		validated
MeSH	C537147	E		validated
UMLS	C1833372	E		validated
GARD	2878	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:405Familial hypocalciuric hypercalcemia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare endocrine diseases; rare bone diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AP2S1	Disease-causing germline mutation(s) in	Assessed	HGNC:565	ENSG00000042753	602242	19q13.32	adaptor related protein complex 2 subunit sigma 1	23222959[PMID]

0 records

No prevalence record in this release.

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