Heme Oxygenase 1 Deficiency; Hmox1d

Clinical Features

Phenotypes and symptoms related to Heme Oxygenase 1 Deficiency; Hmox1d

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever
  • Proteinuria
  • Skin rash
  • Hemolytic anemia
  • Hematuria
  • Asplenia

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.

Heme Oxygenase 1 Deficiency; Hmox1d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RMRP, BCS1L, RS1, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC19A2, SLC22A5, SLC26A2, SMN1, SMPD1, BTD, TH, TTPA, TYR , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic (United States).

RHAG, RPS19, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, UGT1A1, XK, CD59, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, STOM, FANCA, FANCC, FANCG , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
HMOX1.

By Fulgent Genetics Fulgent Genetics (United States).

HMOX1
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC19A2, SLC22A5, SLC26A2, SMN1, SMPD1, BTD, TH, TTPA, TYR, CLRN1 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

You can get up to -4 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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