Hypomagnesemia 5, Renal, With Ocular Involvement; Homg5

Description

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypomagnesemia 5, Renal, With Ocular Involvement; Homg5

  • Nystagmus
  • Visual impairment
  • Myopia
  • Renal insufficiency
  • Inguinal hernia
  • Hernia
  • Umbilical hernia
  • Coloboma
  • Nephropathy
  • Hematuria
And another 17 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hypomagnesemia 5, Renal, With Ocular Involvement; Homg5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
CLDN19. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CLDN19
Specificity
100 %
Genes
100 %
Hypomagnesemia type 5 (sequence analysis of CLDN19 gene).

By CGC Genetics in Portugal.

CLDN19
Specificity
100 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
100 %
Primary hypomagnesemia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CLDN19
Specificity
100 %
Genes
100 %
Hypomagnesemia 5, renal, with ocular involvement.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CLDN19
Specificity
100 %
Genes
100 %
Renal Hypomagnesemia 5 via CLDN19 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CLDN19
Specificity
100 %
Genes
100 %
Hypomagnesemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1B, SARS2, CASR, SLC12A3, BSND, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
7 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Hypomagnesemia 5, renal, with ocular involvement.

By Centogene AG - the Rare Disease Company in Germany.

CLDN19
Specificity
100 %
Genes
100 %
Hypomagnesemia with hypercalciuria , nephrocalcinosis and severe ocular involvement, Familial: CLDN19 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CLDN19
Specificity
100 %
Genes
100 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
CLDN19.

By Fulgent Genetics Fulgent Genetics in United States.

CLDN19
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Hypomagnesemia Panel.

By Blueprint Genetics in Finland.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, MAGT1, CNNM4, PCBD1, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF, NIPA2
Specificity
6 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

CLDN16, CLDN19
Specificity
50 %
Genes
100 %
Familial Hypomagnesemia with Hypercalciuria-Nephrocalcinosis and Severe OcularInvolvement, Sequencing CLDN19 Gene.

By Reference Laboratory Genetics in Spain.

CLDN19
Specificity
100 %
Genes
100 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, NR3C2, KLHL3, SLC4A1, WNK4, CLDN16 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

HNF1B, SARS2, CASR, SLC12A3, CLCNKB, KCNA1, KCNJ10, PCBD1, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
8 %
Genes
100 %

Alternate names

Hypomagnesemia 5, Renal, With Ocular Involvement; Homg5 Is also known as hypomagnesemia, renal, with ocular involvement, hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement, fhhnc with severe ocular involvement, macular coloboma, bilateral, with hypercalciuria;fhhnc with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome; meier-blumberg-imahorn syndrome.



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