Immunodeficiency 47; Imd47

Table of contents:

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

Description

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

Genes related to Immunodeficiency 47; Imd47

ATP6AP1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 47; Imd47

Intellectual disability
Seizures
Hearing impairment
Sensorineural hearing impairment
Hepatomegaly
Splenomegaly
Immunodeficiency
Recurrent infections
Jaundice
Hepatosplenomegaly

And another 13 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Immunodeficiency 47; Imd47 Is also known as immunodeficiency and hepatopathy with or without neurologic features.

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.

Immunodeficiency 47; Imd47 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal and peroxisomal diseases (NGS panel of 109 genes). By CGC Genetics (Portugal). SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...) View the complete list with 88 more genes Panel complete gene list SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5 Specificity 1 % Genes 100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes). By CGC Genetics (Portugal). SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...) View the complete list with 88 more genes Panel complete gene list SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5 Specificity 1 % Genes 100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...) View the complete list with 24 more genes Panel complete gene list SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, GORAB, AEBP1, EFEMP2, ELN, FBLN5, FLNA, FLNB, GGCX, SMAD3, ATP6V1A, ATP6V1E1, ATP6AP1, ATP7A, PLOD1, PLP1, B3GAT3, B4GALT7, PRDM5, PYCR1, ALDH18A1 Specificity 3 % Genes 100 %
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6 , (...) View the complete list with 30 more genes Panel complete gene list SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST, CCDC115, MAGT1, DPAGT1, DPM1, DPM2, DPM3, RFT1, TUSC3, STT3B, TMEM165, ALG13, ALG11, STT3A, COG1, COG2, MAN1B1, MGAT2, MPDU1, MPI, ATP6AP1, PGM1, PMM2, B4GALT1 Specificity 2 % Genes 100 %
ATP6AP1. By Fulgent Genetics Fulgent Genetics (United States). ATP6AP1 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 Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11 HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS