HIGM5
MCID: IMM176
MIFTS: 25

Immunodeficiency with Hyper-Igm, Type 5 (HIGM5)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 5

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 5:

Name: Immunodeficiency with Hyper-Igm, Type 5 57
Higm5 57 12 53 59 74
Immunodeficiency with Hyper Igm Type 5 12 53 29 6
Hyper-Igm Syndrome 5 57 12 74
Hyper-Igm Syndrome Due to Uracil N-Glycosylase 12 59
Hyper-Igm Syndrome Due to Ung Deficiency 12 59
Immunodeficiency with Hyper Igm, Type 5 57 13
Hyper-Igm Immunodeficiency Syndrome, Type 5 72
Immunodeficiency, with Hyper Igm, Type 5 40
Immunodeficiency with Hyper-Igm 5 74
Hyper-Igm Immunodeficiency Type 5 74
Hyper-Igm Syndrome Type 5 59
Hyper Igm Syndrome 5 53

Characteristics:

OMIM:

57
Miscellaneous:
recurrent bacterial infections

Inheritance:
autosomal recessive


HPO:

32
immunodeficiency with hyper-igm, type 5:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060759
MeSH 44 D053306
ICD10 33 D80.5
ICD10 via Orphanet 34 D80.5
UMLS via Orphanet 73 C1720958
Orphanet 59 ORPHA101092
MedGen 42 C1720958
UMLS 72 C1720958

Summaries for Immunodeficiency with Hyper-Igm, Type 5

Disease Ontology : 12 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has material basis in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 5, is also known as higm5. An important gene associated with Immunodeficiency with Hyper-Igm, Type 5 is UNG (Uracil DNA Glycosylase). Affiliated tissues include b cells and lymph node, and related phenotypes are immunodeficiency and recurrent bacterial infections

OMIM : 57 Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). (608106)

UniProtKB/Swiss-Prot : 74 Immunodeficiency with hyper-IgM 5: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.

Related Diseases for Immunodeficiency with Hyper-Igm, Type 5

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 5

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 5:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 recurrent bacterial infections 32 HP:0002718
3 decreased circulating iga level 32 HP:0002720
4 decreased circulating igg level 32 HP:0004315
5 lymphadenopathy 32 HP:0002716
6 recurrent upper and lower respiratory tract infections 32 HP:0200117
7 epididymitis 32 HP:0000031
8 increased circulating igm level 32 HP:0003496
9 impaired ig class switch recombination 32 HP:0002959

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent upper and lower respiratory tract infections

Genitourinary Internal Genitalia Male:
chronic epididymitis

Immunology:
impaired ig class switch recombination (csr)
lymph node hyperplasia
normal b-cell (cd19+) count
elevated igm
low igg and iga

Clinical features from OMIM:

608106

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 5

Search Clinical Trials , NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 5

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 5

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 5:

# Genetic test Affiliating Genes
1 Immunodeficiency with Hyper Igm Type 5 29 UNG

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 5

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 5:

41
B Cells, Lymph Node

Publications for Immunodeficiency with Hyper-Igm, Type 5

Articles related to Immunodeficiency with Hyper-Igm, Type 5:

# Title Authors PMID Year
1
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. 8 71
12958596 2003
2
B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. 71
15967827 2005

Variations for Immunodeficiency with Hyper-Igm, Type 5

ClinVar genetic disease variations for Immunodeficiency with Hyper-Igm, Type 5:

6 (show all 27)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UNG UNG, 1-BP DEL, 462C deletion Pathogenic
2 UNG UNG, 2-BP DEL, 639TA deletion Pathogenic
3 UNG NM_080911.3(UNG): c.752T> C (p.Phe251Ser) single nucleotide variant Pathogenic rs104894380 12:109541367-109541367 12:109103562-109103562
4 UNG UNG, 2-BP DEL, 497AT deletion Pathogenic
5 UNG NM_080911.3(UNG): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic 12:109541300-109541300 12:109103495-109103495
6 UNG NM_080911.3(UNG): c.528G> A (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs373915335 12:109539799-109539799 12:109101994-109101994
7 UNG NM_080911.3(UNG): c.533+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs55812333 12:109539810-109539810 12:109102005-109102005
8 UNG NM_080911.3(UNG): c.651G> A (p.Thr217=) single nucleotide variant Uncertain significance 12:109541266-109541266 12:109103461-109103461
9 UNG NM_080911.3(UNG): c.392C> T (p.Pro131Leu) single nucleotide variant Uncertain significance 12:109537046-109537046 12:109099241-109099241
10 UNG NM_080911.3(UNG): c.265A> G (p.Asn89Asp) single nucleotide variant Uncertain significance rs201031933 12:109536369-109536369 12:109098564-109098564
11 UNG NM_080911.3(UNG): c.911G> A (p.Gly304Asp) single nucleotide variant Uncertain significance rs1555265484 12:109547743-109547743 12:109109938-109109938
12 UNG NM_080911.3(UNG): c.544A> G (p.Ile182Val) single nucleotide variant Uncertain significance rs545691651 12:109540654-109540654 12:109102849-109102849
13 UNG NM_080911.3(UNG): c.*70_*71del deletion Uncertain significance rs193922714 12:109547844-109547845 12:109110039-109110040
14 UNG NM_080911.3(UNG): c.262C> T (p.Arg88Cys) single nucleotide variant Uncertain significance rs151095402 12:109536366-109536366 12:109098561-109098561
15 UNG NM_080911.3(UNG): c.146A> G (p.Lys49Arg) single nucleotide variant Uncertain significance rs143103316 12:109536250-109536250 12:109098445-109098445
16 UNG NM_080911.3(UNG): c.61G> A (p.Ala21Thr) single nucleotide variant Uncertain significance 12:109535545-109535545 12:109097740-109097740
17 UNG NM_080911.3(UNG): c.260C> T (p.Ala87Val) single nucleotide variant Uncertain significance 12:109536364-109536364 12:109098559-109098559
18 UNG NM_080911.3(UNG): c.366A> C (p.Arg122Ser) single nucleotide variant Uncertain significance 12:109537020-109537020 12:109099215-109099215
19 UNG NM_080911.3(UNG): c.593A> G (p.His198Arg) single nucleotide variant Uncertain significance 12:109540703-109540703 12:109102898-109102898
20 UNG NM_080911.3(UNG): c.805C> T (p.Arg269Trp) single nucleotide variant Uncertain significance 12:109547637-109547637 12:109109832-109109832
21 UNG NM_080911.3(UNG): c.802-6T> C single nucleotide variant Uncertain significance 12:109547628-109547628 12:109109823-109109823
22 UNG NC_000012.11: g.(?_109547614)_(109547794_?)dup duplication Uncertain significance 12:109547614-109547794 12:109109809-109109989
23 UNG NM_080911.3(UNG): c.843G> T (p.Leu281Phe) single nucleotide variant Likely benign rs576935575 12:109547675-109547675 12:109109870-109109870
24 UNG NM_080911.3(UNG): c.732G> A (p.Gln244=) single nucleotide variant Likely benign rs193922715 12:109541347-109541347 12:109103542-109103542
25 UNG NM_080911.3(UNG): c.759C> G (p.Leu253=) single nucleotide variant Benign/Likely benign rs76391872 12:109541374-109541374 12:109103569-109103569
26 UNG NM_080911.3(UNG): c.246G> C (p.Leu82=) single nucleotide variant Benign/Likely benign rs144083363 12:109536350-109536350 12:109098545-109098545
27 UNG NM_080911.3(UNG): c.291C> T (p.Ser97=) single nucleotide variant Benign rs3219210 12:109536395-109536395 12:109098590-109098590

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency with Hyper-Igm, Type 5:

74
# Symbol AA change Variation ID SNP ID
1 UNG p.Phe251Ser VAR_017094 rs104894380

Expression for Immunodeficiency with Hyper-Igm, Type 5

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 5.

Pathways for Immunodeficiency with Hyper-Igm, Type 5

GO Terms for Immunodeficiency with Hyper-Igm, Type 5

Sources for Immunodeficiency with Hyper-Igm, Type 5

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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