Congenital Atransferrinemia

Table of contents:

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

Description

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

Genes related to Congenital Atransferrinemia

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Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Atransferrinemia

Growth delay
Anemia
Hepatomegaly
Fatigue
Congestive heart failure
Recurrent infections
Pneumonia
Hypothyroidism
Arthritis
Pallor

And another 9 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Congenital Atransferrinemia Is also known as hypotransferrinemia, familial, congenital hypotransferrinemia.

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.

Congenital Atransferrinemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyperferritinemia Panel. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M Specificity 7 % Genes 100 %
ATRANSFERRINEMIA. By BLOODGENETICS BLOODGENETICS (Spain). TF Specificity 100 % Genes 100 %
NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2). By BLOODGENETICS BLOODGENETICS (Spain). SLC11A2, TF, TMPRSS6, ACVR1, CP, STEAP3, ATP4A, ATP7B Specificity 13 % Genes 100 %
TF. By Fulgent Genetics Fulgent Genetics (United States). TF Specificity 100 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics (Finland). RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...) View the complete list with 218 more genes Panel complete gene list RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF, BRCA1, BRCA2, SMARCD2, SOS1, SPTA1, SPTB, SRC, SRP72, STX11, STXBP2, EPCAM, TBXA2R, TCN2, TERC, TERT, TF, THBD, THPO, TINF2, FAS, FASLG, TP53, TPI1, EGLN1, TYR, TYRP1, VWF, WAS, WIPF1, WDR1, XRCC2, IKZF1, ACTB, SAMD9, SAMD9L, ADAMTS13, ABCG5, ABCG8, MRTFA, NHP2, NOP10, LPIN2, VPS45, AMN, CBL, PUS1, HPS3, HPS4, RTEL1, TUBB1, ACTN1, SLC45A2, TMPRSS6, HAX1, HPS5, CDAN1, DTNBP1, TRNT1, DCLRE1B, NT5C3A, CDKN2A, P2RY12, CEBPA, MCFD2, DDX41, HPS6, MASTL, SBDS, LYST, CYCS, GPR143, CLCN7, BRIP1, FANCL, BLOC1S3, PDHX, VPS13B, UNC13D, FANCM, VKORC1, SLX4, YARS2, CSF2RA, CSF3R, G6PC3, ACD, CTSC, CUBN, WRAP53, FANCI, CXCR4, USB1, SLC25A38, PALB2, CTC1, RNF168, ERCC6L2, JAGN1, C15orf41, DNAJC21, DHFR, CYB5R3, MAGT1, DKC1, GINS1, PIEZO1, ANKRD26, LAMTOR2, SLC46A1, CLPB, NBEAL2, SLFN14, ABCA3, ELANE, EPAS1, EPB41, EPB42, EPOR, ERCC4, ETV6, MECOM, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, AK2, FGA, FGB, FGG, FLI1, FLNA, ALAS2, FYB1, G6PD, SLC37A4, GATA1, GATA2, GFI1, GFI1B, GGCX, GP1BA, GP1BB, GP9, GPI, GSS, ABCB7, HBA1, HBA2, HBB, HFE, ANK1, HOXA11, HPS1, HRAS, IFNGR2, AP3B1, AP3D1, XIAP, ITGA2, ITGA2B, ITGB3, ITK, JAK2, KLF1, KRAS, LMAN1, MAP2K1, MAP2K2, ARPC1B, MLH1, MPL, MSH2, MSH6, MTHFD1, MTR, MYH9, MYO5A, NBN, SERPINC1, NF1, ATM, NRAS, OCA2, BLOC1S6, PARN, PAX5, PC, PDHA1, ATR, ATRX, PGM3, PKLR, PMS2, PRF1, PRKACG, PROC, PROS1, PTPN11, RAB27A, RAC2, RAD51C, RBM8A, RECQL4, REN Specificity 1 % Genes 100 %
Anemia Panel. By Blueprint Genetics (Finland). RHAG, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, BLM, SEC23B, SLC19A2, BRCA2, SPTA1, SPTB, TCN2, TF, THBD , (...) View the complete list with 57 more genes Panel complete gene list RHAG, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, BLM, SEC23B, SLC19A2, BRCA2, SPTA1, SPTB, TCN2, TF, THBD, TPI1, XRCC2, ADAMTS13, LPIN2, AMN, PUS1, TMPRSS6, CDAN1, NT5C3A, SBDS, CLCN7, BRIP1, FANCL, PDHX, FANCM, SLX4, YARS2, CUBN, FANCI, SLC25A38, PALB2, C15orf41, DNAJC21, DHFR, CYB5R3, PIEZO1, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, G6PD, GATA1, GPI, GSS, ABCB7, HBA1, HBA2, HBB, HFE, ANK1, KLF1, MTR, NBN, ATM, PC, PDHA1, ATR, ATRX, PKLR, RAD51C, REN Specificity 2 % Genes 100 %
Atransferrinemia , Sequencing TF Gene. By Reference Laboratory Genetics (Spain). TF Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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