Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial hypocalciuric hypercalcemia type 3

Familial hypocalciuric hypercalcemia type 3 is an autosomal dominant disorder caused by mutations of the AP2S1 gene.

Systematic

Inherited disorders of calcium balance
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
AP2S1
Hypophosphatasia
Infantile hypercalcemia

References:

1.

McMurtry CT et al. (1992) Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia.

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2.

Nesbit MA et al. (2013) Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

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3.

Hannan FM et al. (2010) Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

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4.

Trump D et al. (1995) Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

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5.

Lloyd SE et al. (1999) Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.

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6.

OMIM.ORG article

Omim 600740 [^]
7.

Orphanet article

Orphanet ID 101050 [^]
Update: April 29, 2019