Anemia, Sideroblastic, 4; Sidba4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015).For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (OMIM ).

Genes related to Anemia, Sideroblastic, 4; Sidba4

HSPA9

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Anemia, Sideroblastic, 4; Sidba4

Anemia
Anemia of inadequate production
Sideroblastic anemia
Refractory anemia with ringed sideroblasts

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.

Anemia, Sideroblastic, 4; Sidba4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive mitochondrial disorders panel. By Centogene AG - the Rare Disease Company (Germany). RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...) View the complete list with 156 more genes Panel complete gene list RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SUOX, SURF1, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, GFM1, MRPS16, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PANK2, COX4I2, PARK7, LIAS, KIF1B, MCEE, MFN2, HAX1, LARS2, TIMM44, AASS, SARS2, TMLHE, ATPAF2, NDUFAF1, MMAA, MMAB, SLC25A22, CYCS, NDUFA11, BRIP1, PDHX, ACAD9, DIABLO, AGK, COX10, COX15, COX6B1, ABAT, CPOX, CPT1A, CPT2, DMGDH, COQ2, TRMU, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, DBT, DGUOK, DHODH, DLAT, DLD, CRBN, AFG3L2, AGXT, ETFA, ETFB, ETFDH, ACSL4, AK2, FECH, FH, FXN, ALAS2, ALDH4A1, ALDH5A1, GATM, GCDH, GCSH, GK, GLDC, GLUD1, AMACR, ABCB6, AMT, HADH, ABCB7, HADHA, HADHB, HK1, HLCS, HMGCL, HMGCS2, HSD3B2, HSPA9, HSPD1, IDH2, IDH3B, PDX1, IVD, MAOA, MCCC1, MCCC2, MIP, MLYCD, ALDH6A1, MTRR, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGG1, OPA1, OPA3, ATP5F1E, OTC, OXCT1, PC, PCCA, PCCB, ACAD8, ATP7B, PCK2, PDHA1, PDHB, ACADM, AUH, ACADS, ACADSB, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, PRODH, CAVIN1, ALDH18A1, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
Hereditary Sideroblastic Anemia. By Asper Biogene Asper Biogene LLC (Estonia). SLC19A2, PUS1, TRNT1, GLRX5, YARS2, SLC25A38, ALAS2, ABCB7, HSPA9 Specificity 12 % Genes 100 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia. By BLOODGENETICS BLOODGENETICS (Spain). SF3B1, SLC19A2, PUS1, LARS2, TRNT1, GLRX5, NDUFB11, YARS2, STEAP3, SLC25A38, ALAS2, ABCB7, HSPA9 Specificity 8 % Genes 100 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...) View the complete list with 476 more genes Panel complete gene list RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, ACHE, SHMT1, SLC16A1, SLC19A2, SLC22A4, SLC22A5, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC27A4, SLC2A1, SLC3A1, SLC6A8, SPAST, SPG7, SPR, SPTLC2, STAR, CDKL5, SUCLA2, SUCLG1, SUOX, SURF1, ACLY, TAT, TAZ, TSPO, TWNK, TCIRG1, TFAM, ACO2, TIMM8A, TK2, TP53, TPI1, TSFM, TST, TUFM, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, UROS, USP24, WFS1, WWOX, AAAS, GFM1, CACNA1A, CACNA1S, CACNA2D1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, AGXT2, MRPS22, IMMP2L, SIRT1, SIRT3, SIRT5, CASP8, PUS1, LRPPRC, PANK2, NDUFAF5, PAK5, GDAP1, APTX, SUGCT, COX4I2, DNAJC5, NFU1, LIAS, ACSL5, KIF1B, MRPL48, MCEE, NPL, MFN2, TFB1M, MGLL, LARS2, NDUFA13, RRM2B, TIMM44, DTNBP1, AASS, CDC42BPB, AS3MT, MTCH2, SARS2, PDSS1, TXN2, PTGES2, NAGS, TOMM40, TXNRD2, MOCOS, PARL, CLYBL, SPART, LRRK2, PMPCA, ATPAF2, NDUFAF1, CFTR, MMAA, TDP1, CHAT, PACRG, MTO1, MMAB, CHRNA4, CHRNB2, COQ4, CKM, SLC25A22, CYCS, GLRX5, CLCN1, CLCN2, CLCN5, COQ6, CLCN7, CLCNKB, NUBPL, NDUFA11, L2HGDH, TPH2, TPP1, CLN3, CLN5, CLN6, CLN8, AARS2, NDUFAF4, MTHFD1L, RSPH9, FARS2, PDHX, RARS2, ACAD9, DIABLO, CNR1, AGK, COX10, COX15, COX4I1, COX6B1, COX7A2, PEX26, ABAT, PDSS2, CPOX, CPT1A, ETHE1, CPT1B, CPT2, NIPSNAP3A, MED23, NDUFA12, CISD2, GLYCTK, YARS2, SLC25A39, TACO1, BOLA3, DMGDH, MMACHC, RAB11FIP5, MOGS, GPAM, MARS2, HOGA1, MMADHC, COQ2, CTSD, COQ9, TMEM126A, TRMU, DMAC2, MTPAP, DARS2, CYB5A, CYBA, CYBB, REEP1, CYP11A1, CYP11B1, CYP11B2, TTC19, CYP24A1, SDHAF2, CYP27A1, TMEM70, SLC25A38, CYP27B1, NARS2, C12orf65, FOXRED1, DBT, PARP1, ECI1, DDAH1, DDC, ACSF3, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, MFSD8, DGUOK, NDUFAF6, DHODH, COQ5, CYB5R3, DISC1, DLAT, DLD, ADSL, FASTKD2, ANKRD26, MAVS, DMPK, EARS2, ECSIT, UQCRQ, MTFMT, DNM1L, TOP1MT, ISCU, NLRX1, NDUFAF3, PPARGC1B, PREPL, DNAJC19, SECISBP2, TYMP, AFG3L2, ARMS2, AGPS, ELN, ENO1, ENO3, COA5, SDHAF1, AGXT, ETFA, ETFB, ETFDH, FAAH, ACSL4, FASN, FBP1, AK2, FECH, AKAP10, FH, ATP8B1, FOLR1, FOXC1, FOXG1, FPGS, AKR7A2, AKT1, AKT2, FXN, ALAS2, FTH1, ALDH3A2, G6PC, G6PD, ALDH4A1, ALDH5A1, GAD1, GAD2, GALC, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, TAP1, GLDC, GLO1, GLRA1, GLS, GLUD1, GNAS, GNPAT, GPD1, GPD2, GPI, AMACR, GPX1, GPX4, ABCB6, GYS1, GYS2, AMT, H6PD, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS, HARS2, HCCS, HTT, HIBCH, HK1, HK2, ANK2, HLCS, HMGCL, HMGCS2, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPB7, HSPD1, IDE, IDH1, IDH2, IDH3B, ABCC8, ABCC9, IMMT, INSR, ABCD1, PDX1, IVD, KARS, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ11, KCNJ2, KCNQ1, KCNQ2, KCNQ3, KRT5, KYNU, LDHA, LDHB, LETM1, ABCD3, MAOA, MAOB, MCCC1, MCCC2, MDH1, MECP2, MEN1, MGST3, MLYCD, ALDH6A1, MOCS1, MOCS2, MRRF, MTHFD1, MTHFS, MTRR, MMUT, MUTYH, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFB1, NDUFB3, NDUFB6, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NIPSNAP1, NME1, ATIC, NRXN1, NTHL1, OAT, OGG1, OPA1, OPA3, ATP5F1E, ACACA, ACACB, OTC, OXCT1, PAH, PRKN, PC, PCCA, PCCB, ACAD8, ATP7B, PCK1, PCK2, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, ACADM, AUH, PHB, PHYH, ACADS, PKLR, ACADSB, PNKD, PNMT, POLG, POLG2, ACADVL, POLRMT, PPARGC1A, PDP1, PPOX, ACAT1, PPT1, ACAT2, PRODH, BAX, PTS, PEX19, PEX2, PEX5, PYCR1, ALDH18A1, QDPR, BCAT1, BCAT2, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
HSPA9. By Fulgent Genetics Fulgent Genetics (United States). HSPA9 Specificity 100 % Genes 100 %

You can get up to -3 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX WOLF-HIRSCHHORN SYNDROME PANCREATIC LIPASE DEFICIENCY; PNLIPD KBG SYNDROME; KBGS CHROMOSOME 15q14 DELETION SYNDROME 1P21.3 MICRODELETION SYNDROME RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS