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 |
---|
![]() 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 % |
![]() 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 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
HMOX1
Specificity
100 %
Genes
100 % |
![]() 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
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4 OHDO SYNDROME, SBBYS VARIANT; SBBYSS SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD 5Q14.3 MICRODELETION SYNDROME SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR