Disease #05195 (HCINF2 (hypercalcemia, infantile, type 2 (HCINF-2)), OMIM:616963)

Official abbreviation HCINF2
Name hypercalcemia, infantile, type 2 (HCINF-2)
OMIM ID 616963
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 1 gene SLC34A1
Associated tissues -
Disease features -
Remarks -
Date created 2016-10-11 12:16:28 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00074402 26047794-Fam1Pat1 PubMed: Schlingmann 2016, Journal: Schlingmann 2016 6-generation family, affected niece/nephew, unaffected heterozygous carrier parents, Pat1 F yes Turkey - >01y06m - - - HCINF2 Failure to thrive (HP:0001508), Polyuria (HP:0000103), Dehydration (HP:0001944), Muscular hypotonia (HP:0001252), Nephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), SLC34A1 SLC34A1 1 2 Pieter Klap
00074403 26047794-Fam1Pat2 PubMed: Schlingmann 2016, Journal: Schlingmann 2016 Pat2 M yes Turkey - >07y - - Rehydration (acute phase); oral phosphate, hydrochlorothiazide (long term) HCINF2 failure to thrive (HP:0001508), Polyuria (HP:0000103), Dehydration (HP:0001944), no muscular hypotonia (-HP:0001252), Nephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148) SLC34A1 SLC34A1 1 1 Pieter Klap
00074404 26047794-Fam2Pat1 PubMed: Schlingmann 2016, Journal: Schlingmann 2016 5-generation family, 1 affected, unaffected heterozygous carrier parents - yes Turkey - >06y - - - HCINF2 diagnosis infantile hypercalcemia; ephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), ephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152) SLC34A1 SLC34A1 1 1 Pieter Klap
00074405 26047794-Fam3Pat1 PubMed: Schlingmann 2016, Journal: Schlingmann 2016 4-generation family, 1 affected, unaffected heterozygous carrier parents - yes Turkey - >01y06m - - - HCINF2 diagnosis infantile hypercalcemia; failure to thrive (HP:0001508), Polyuria (HP:0000103), Dehydration (HP:0001944), no muscular hypotonia (-HP:0001252), Nephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148) SLC34A1 SLC34A1 1 1 Pieter Klap
00095161 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095162 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 1 1 Johan den Dunnen
00095163 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095164 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095165 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095166 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095167 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095168 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Bulgaria - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095169 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Israel - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 1 1 Johan den Dunnen
00095170 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Belgium - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095171 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 2 1 Johan den Dunnen
00095172 - PubMed: Schlingmann 2016, Journal: Schlingmann 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - HCINF2 see paper; … SLC34A1 SLC34A1 1 1 Johan den Dunnen
00248174 - - - F - Russia - >00y06m - - - FRTS2, HCINF2 Nephrocalcinosis, Muscular hypotonia, Failure to thrive - SLC34A1 2 1 Valeriia Apukhtina
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