ORPHA:101049

Familial hypocalciuric hypercalcemia type 2

Synonyms: FHH type 2

This disease is described under Familial hypocalciuric hypercalcemia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial hypocalciuric hypercalcemia type 2	FHH type 2
fr	Hypercalcémie hypocalciurique familiale type 2	FHH type 2 · Syndrome de Marx type 2
de	Hyperkalzämie, familiäre hypokalziurische, Typ 2	FHH Typ 2
es	Hipercalcemia hipocalciúrica familiar tipo 2	FHH tipo 2
it	Ipercalcemia ipocalciurica familiare, tipo 2	FHH, tipo 2
nl	Familiale hypocalciurische hypercalciëmie type 2	= en
pt	Hipercalcemia hipocalciúrica, familiar, tipo 2
pl	Rodzinna hipokalcuria hiperkalcemiczna typu 2	= en
cs	Familiární hypokalciurická hyperkalcémie, typ 2	FHH, typ 2
uk	Сімейна гіпокальціурична гіперкальціємія, тип 2	FHH тип 2
zh	家族性低尿钙性高钙血症2型	FHH2型
tr	Ailesel hipokalsiürik hiperkalsemi tip 2	FHH tip 2

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	145981	E		validated
ICD-10	E83.5	NTBT	attributed	validated
ICD-11	5A51.2	NTBT	attributed	validated
MONDO	0007792	E		validated
MeSH	C537146	E		validated
UMLS	C1840347	E		validated
GARD	9758	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
GNA11	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4379	ENSG00000088256	139313	19p13.3	G protein subunit alpha 11	23802516[PMID]

0 records

No prevalence record in this release.

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