Hypercalcemia, Infantile, 2; Hcinf2
Description
Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Hypercalcemia, Infantile, 2; Hcinf2
- Failure to thrive
- Muscular hypotonia
- Vomiting
- Dehydration
- Recurrent urinary tract infections
- Nephrocalcinosis
- Hypercalciuria
- Hypercalcemia
- Polyuria
- Hypophosphatemia
And another 4 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Hypercalcemia, Infantile, 2; Hcinf2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
SLC34A1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1
Specificity
100 %
Genes
100 % |
SLC34A1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1
Specificity
100 %
Genes
100 % |
SLC34A1 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1
Specificity
100 %
Genes
100 % |
SLC34A1 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1
Specificity
100 %
Genes
100 % |
Low Bone Mass Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (sequence analysis of SLC34A1 gene).
By CGC Genetics (Portugal).
SLC34A1
Specificity
100 %
Genes
100 % |
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, VDR, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1 , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
You can get up to 17 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTHEMIA 1; THCYT1 TRANSALDOLASE DEFICIENCY SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY FICOLIN 3 DEFICIENCY EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56 HYPOCHONDROPLASIA; HCH