Anemia, Sideroblastic, 3, Pyridoxine-refractory; Sidba3

Description

Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit (summary by Liu et al., 2014).For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Anemia, Sideroblastic, 3, Pyridoxine-refractory; Sidba3

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Elevated hepatic transaminase
  • Jaundice
  • Hepatosplenomegaly
  • Cirrhosis
  • Type II diabetes mellitus
  • Microcytic anemia
  • Increased serum ferritin
And another 5 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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Anemia, Sideroblastic, 3, Pyridoxine-refractory; Sidba3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
GLRX5 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GLRX5
Specificity
100 %
Genes
100 %
Glutaredoxin 5 deficiency (GLRX5).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

GLRX5
Specificity
100 %
Genes
100 %
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

GLRX5
Specificity
100 %
Genes
100 %
Congenital sideroblastic anemia panel.

By Centogene AG - the Rare Disease Company in Germany.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1
Specificity
13 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Hereditary Sideroblastic Anemia.

By Asper Biogene Asper Biogene LLC in Estonia.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1, HSPA9
Specificity
12 %
Genes
100 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia.

By BLOODGENETICS BLOODGENETICS in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, MT-ATP6, SLC19A2, LARS2, SF3B1, TRNT1, STEAP3, NDUFB11, HSPA9
Specificity
8 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
GLRX5.

By Fulgent Genetics Fulgent Genetics in United States.

GLRX5
Specificity
100 %
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 %
Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel.

By Blueprint Genetics in Finland.

LIAS, BOLA3, NFU1, GCSH, GLDC, AMT, GLRX5, LIPT1, SLC6A9
Specificity
12 %
Genes
100 %
Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5
Specificity
17 %
Genes
100 %

Alternate names

Anemia, Sideroblastic, 3, Pyridoxine-refractory; Sidba3 Is also known as ;glrx5-related sideroblastic anemia.



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