MCID: IMM176
MIFTS: 23

Immunodeficiency with Hyper-Igm, Type 5

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood 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 75
Immunodeficiency with Hyper Igm Type 5 12 53 29 6
Hyper-Igm Syndrome 5 57 12 75
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 73
Immunodeficiency, with Hyper Igm, Type 5 40
Immunodeficiency with Hyper-Igm 5 75
Hyper-Igm Immunodeficiency Type 5 75
Hyper-Igm Syndrome Type 5 59
Hyper Igm Syndrome 5 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
recurrent bacterial infections


HPO:

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


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 608106
Disease Ontology 12 DOID:0060759
Orphanet 59 ORPHA101092
UMLS via Orphanet 74 C1720958
ICD10 via Orphanet 34 D80.5
MedGen 42 C1720958
MeSH 44 D053306
UMLS 73 C1720958

Summaries for Immunodeficiency with Hyper-Igm, Type 5

Disease Ontology : 12 A hyperimmunoglobulin syndrome 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 epididymitis and lymphadenopathy

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent upper and lower respiratory tract infections

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

GenitourinaryInternal GenitaliaMale:
chronic epididymitis


Clinical features from OMIM:

608106

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

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

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

Variations for Immunodeficiency with Hyper-Igm, Type 5

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

75
# Symbol AA change Variation ID SNP ID
1 UNG p.Phe251Ser VAR_017094 rs104894380

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

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 UNG UNG, 1-BP DEL, 462C deletion Pathogenic
2 UNG UNG, 2-BP DEL, 639TA deletion Pathogenic
3 UNG NM_080911.2(UNG): c.752T> C (p.Phe251Ser) single nucleotide variant Pathogenic rs104894380 GRCh37 Chromosome 12, 109541367: 109541367
4 UNG NM_080911.2(UNG): c.752T> C (p.Phe251Ser) single nucleotide variant Pathogenic rs104894380 GRCh38 Chromosome 12, 109103562: 109103562
5 UNG UNG, 2-BP DEL, 497AT deletion Pathogenic
6 UNG NM_080911.2(UNG): c.528G> A (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs373915335 GRCh38 Chromosome 12, 109101994: 109101994
7 UNG NM_080911.2(UNG): c.528G> A (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs373915335 GRCh37 Chromosome 12, 109539799: 109539799
8 UNG NM_080911.2(UNG): c.533+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs55812333 GRCh38 Chromosome 12, 109102005: 109102005
9 UNG NM_080911.2(UNG): c.533+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs55812333 GRCh37 Chromosome 12, 109539810: 109539810
10 UNG NM_080911.2(UNG): c.759C> G (p.Leu253=) single nucleotide variant Benign/Likely benign rs76391872 GRCh38 Chromosome 12, 109103569: 109103569
11 UNG NM_080911.2(UNG): c.759C> G (p.Leu253=) single nucleotide variant Benign/Likely benign rs76391872 GRCh37 Chromosome 12, 109541374: 109541374
12 UNG NM_080911.2(UNG): c.146A> G (p.Lys49Arg) single nucleotide variant Uncertain significance rs143103316 GRCh38 Chromosome 12, 109098445: 109098445
13 UNG NM_080911.2(UNG): c.146A> G (p.Lys49Arg) single nucleotide variant Uncertain significance rs143103316 GRCh37 Chromosome 12, 109536250: 109536250
14 UNG NM_080911.2(UNG): c.843G> T (p.Leu281Phe) single nucleotide variant Likely benign rs576935575 GRCh37 Chromosome 12, 109547675: 109547675
15 UNG NM_080911.2(UNG): c.843G> T (p.Leu281Phe) single nucleotide variant Likely benign rs576935575 GRCh38 Chromosome 12, 109109870: 109109870
16 UNG NM_080911.2(UNG): c.291C> T (p.Ser97=) single nucleotide variant Benign rs3219210 GRCh37 Chromosome 12, 109536395: 109536395
17 UNG NM_080911.2(UNG): c.291C> T (p.Ser97=) single nucleotide variant Benign rs3219210 GRCh38 Chromosome 12, 109098590: 109098590
18 UNG NM_080911.2(UNG): c.265A> G (p.Asn89Asp) single nucleotide variant Uncertain significance rs201031933 GRCh37 Chromosome 12, 109536369: 109536369
19 UNG NM_080911.2(UNG): c.265A> G (p.Asn89Asp) single nucleotide variant Uncertain significance rs201031933 GRCh38 Chromosome 12, 109098564: 109098564
20 UNG NM_080911.2(UNG): c.911G> A (p.Gly304Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 109547743: 109547743
21 UNG NM_080911.2(UNG): c.911G> A (p.Gly304Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109109938: 109109938

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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