IMD12
MCID: IMM071
MIFTS: 20

Immunodeficiency 12 (IMD12)

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

Aliases & Classifications for Immunodeficiency 12

MalaCards integrated aliases for Immunodeficiency 12:

Name: Immunodeficiency 12 58 76 30 6 74
Imd12 58 76
Combined Immunodeficiency Due to Malt1 Deficiency 60
Immunodeficiency, Type 12 41

Characteristics:

Orphanet epidemiological data:

60
combined immunodeficiency due to malt1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014)
death may occur in late childhood


HPO:

33
immunodeficiency 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 615468
MeSH 45 D007153
ICD10 via Orphanet 35 D81.8
Orphanet 60 ORPHA397964
UMLS 74 C3809583

Summaries for Immunodeficiency 12

UniProtKB/Swiss-Prot : 76 Immunodeficiency 12: A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens.

MalaCards based summary : Immunodeficiency 12, is also known as imd12. An important gene associated with Immunodeficiency 12 is MALT1 (MALT1 Paracaspase). Affiliated tissues include t cells, bone and b cells, and related phenotypes are delayed skeletal maturation and osteoporosis

Description from OMIM: 615468

Related Diseases for Immunodeficiency 12

Symptoms & Phenotypes for Immunodeficiency 12

Human phenotypes related to Immunodeficiency 12:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 33 occasional (7.5%) HP:0002750
2 osteoporosis 33 occasional (7.5%) HP:0000939
3 immunodeficiency 33 HP:0002721
4 growth delay 33 HP:0001510
5 recurrent bacterial infections 33 HP:0002718
6 recurrent viral infections 33 HP:0004429

Symptoms via clinical synopsis from OMIM:

58
Immunology:
recurrent bacterial infections
recurrent viral infections
primary immunodeficiency
opportunistic infections
recurrent candidal infections
more
Skeletal:
delayed bone age (1 patient)
osteoporosis (1 patient)

Growth Other:
poor growth

Clinical features from OMIM:

615468

Drugs & Therapeutics for Immunodeficiency 12

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 12

Genetic Tests for Immunodeficiency 12

Genetic tests related to Immunodeficiency 12:

# Genetic test Affiliating Genes
1 Immunodeficiency 12 30 MALT1

Anatomical Context for Immunodeficiency 12

MalaCards organs/tissues related to Immunodeficiency 12:

42
T Cells, Bone, B Cells

Publications for Immunodeficiency 12

Variations for Immunodeficiency 12

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 12:

76
# Symbol AA change Variation ID SNP ID
1 MALT1 p.Ser89Ile VAR_070857 rs398123058

ClinVar genetic disease variations for Immunodeficiency 12:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 MALT1 NM_006785.4(MALT1): c.266G> T (p.Ser89Ile) single nucleotide variant Pathogenic rs398123058 GRCh37 Chromosome 18, 56348458: 56348458
2 MALT1 NM_006785.4(MALT1): c.266G> T (p.Ser89Ile) single nucleotide variant Pathogenic rs398123058 GRCh38 Chromosome 18, 58681226: 58681226
3 MALT1 NM_006785.4(MALT1): c.1739G> C (p.Trp580Ser) single nucleotide variant Pathogenic rs587777337 GRCh38 Chromosome 18, 58742000: 58742000
4 MALT1 NM_006785.4(MALT1): c.1739G> C (p.Trp580Ser) single nucleotide variant Pathogenic rs587777337 GRCh37 Chromosome 18, 56409232: 56409232
5 MALT1 NM_006785.4(MALT1): c.1299A> T (p.Pro433=) single nucleotide variant Benign rs35575273 GRCh37 Chromosome 18, 56400705: 56400705
6 MALT1 NM_006785.4(MALT1): c.1299A> T (p.Pro433=) single nucleotide variant Benign rs35575273 GRCh38 Chromosome 18, 58733473: 58733473
7 MALT1 NM_006785.4(MALT1): c.677A> G (p.Lys226Arg) single nucleotide variant Uncertain significance rs149988025 GRCh38 Chromosome 18, 58709405: 58709405
8 MALT1 NM_006785.4(MALT1): c.677A> G (p.Lys226Arg) single nucleotide variant Uncertain significance rs149988025 GRCh37 Chromosome 18, 56376637: 56376637
9 MALT1 NM_006785.4(MALT1): c.649A> G (p.Arg217Gly) single nucleotide variant Benign rs74847855 GRCh38 Chromosome 18, 58700591: 58700591
10 MALT1 NM_006785.4(MALT1): c.649A> G (p.Arg217Gly) single nucleotide variant Benign rs74847855 GRCh37 Chromosome 18, 56367823: 56367823
11 MALT1 NM_006785.4(MALT1): c.649+9C> T single nucleotide variant Likely benign rs200919386 GRCh38 Chromosome 18, 58700600: 58700600
12 MALT1 NM_006785.4(MALT1): c.649+9C> T single nucleotide variant Likely benign rs200919386 GRCh37 Chromosome 18, 56367832: 56367832
13 MALT1 NM_006785.4(MALT1): c.1921A> G (p.Ile641Val) single nucleotide variant Likely benign rs35533328 GRCh38 Chromosome 18, 58745675: 58745675
14 MALT1 NM_006785.4(MALT1): c.1921A> G (p.Ile641Val) single nucleotide variant Likely benign rs35533328 GRCh37 Chromosome 18, 56412907: 56412907
15 MALT1 NM_006785.4(MALT1): c.210-7C> T single nucleotide variant Likely benign rs768986231 GRCh37 Chromosome 18, 56348395: 56348395
16 MALT1 NM_006785.4(MALT1): c.210-7C> T single nucleotide variant Likely benign rs768986231 GRCh38 Chromosome 18, 58681163: 58681163
17 MALT1 NM_006785.4(MALT1): c.1429T> G (p.Leu477Val) single nucleotide variant Uncertain significance rs756679089 GRCh37 Chromosome 18, 56401567: 56401567
18 MALT1 NM_006785.4(MALT1): c.1429T> G (p.Leu477Val) single nucleotide variant Uncertain significance rs756679089 GRCh38 Chromosome 18, 58734335: 58734335
19 MALT1 NM_006785.4(MALT1): c.2284C> T (p.His762Tyr) single nucleotide variant Uncertain significance rs150624858 GRCh37 Chromosome 18, 56414883: 56414883
20 MALT1 NM_006785.4(MALT1): c.2284C> T (p.His762Tyr) single nucleotide variant Uncertain significance rs150624858 GRCh38 Chromosome 18, 58747651: 58747651
21 MALT1 NM_006785.4(MALT1): c.2351A> T (p.Asp784Val) single nucleotide variant Uncertain significance rs904452707 GRCh37 Chromosome 18, 56414950: 56414950
22 MALT1 NM_006785.4(MALT1): c.2351A> T (p.Asp784Val) single nucleotide variant Uncertain significance rs904452707 GRCh38 Chromosome 18, 58747718: 58747718
23 MALT1 NM_006785.4(MALT1): c.824A> G (p.Tyr275Cys) single nucleotide variant Uncertain significance rs145169756 GRCh38 Chromosome 18, 58709552: 58709552
24 MALT1 NM_006785.4(MALT1): c.824A> G (p.Tyr275Cys) single nucleotide variant Uncertain significance rs145169756 GRCh37 Chromosome 18, 56376784: 56376784
25 MALT1 NM_006785.4(MALT1): c.253G> A (p.Glu85Lys) single nucleotide variant Uncertain significance rs1229588896 GRCh37 Chromosome 18, 56348445: 56348445
26 MALT1 NM_006785.4(MALT1): c.253G> A (p.Glu85Lys) single nucleotide variant Uncertain significance rs1229588896 GRCh38 Chromosome 18, 58681213: 58681213
27 MALT1 NM_006785.4(MALT1): c.1820A> T (p.Glu607Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 56411636: 56411636
28 MALT1 NM_006785.4(MALT1): c.1820A> T (p.Glu607Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 58744404: 58744404
29 MALT1 NM_006785.4(MALT1): c.1282G> A (p.Val428Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 58733456: 58733456
30 MALT1 NM_006785.4(MALT1): c.1282G> A (p.Val428Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 56400688: 56400688
31 MALT1 NM_006785.4(MALT1): c.1238C> T (p.Ala413Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 56400644: 56400644
32 MALT1 NM_006785.4(MALT1): c.1238C> T (p.Ala413Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 58733412: 58733412
33 MALT1 NM_006785.4(MALT1): c.1302T> C (p.Tyr434=) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 58733476: 58733476
34 MALT1 NM_006785.4(MALT1): c.1302T> C (p.Tyr434=) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 56400708: 56400708
35 MALT1 NM_006785.4(MALT1): c.1666G> A (p.Glu556Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 58741927: 58741927
36 MALT1 NM_006785.4(MALT1): c.1666G> A (p.Glu556Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 56409159: 56409159
37 MALT1 NM_006785.4(MALT1): c.1911+3_1911+6del deletion Uncertain significance GRCh37 Chromosome 18, 56411730: 56411733
38 MALT1 NM_006785.4(MALT1): c.1911+3_1911+6del deletion Uncertain significance GRCh38 Chromosome 18, 58744498: 58744501
39 MALT1 NM_006785.4(MALT1): c.2119G> T (p.Val707Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 56414718: 56414718
40 MALT1 NM_006785.4(MALT1): c.2119G> T (p.Val707Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 58747486: 58747486
41 MALT1 NM_006785.3(MALT1): c.2152delC (p.His718Ilefs) deletion Uncertain significance GRCh37 Chromosome 18, 56414751: 56414751
42 MALT1 NM_006785.3(MALT1): c.2152delC (p.His718Ilefs) deletion Uncertain significance GRCh38 Chromosome 18, 58747519: 58747519

Expression for Immunodeficiency 12

Search GEO for disease gene expression data for Immunodeficiency 12.

Pathways for Immunodeficiency 12

GO Terms for Immunodeficiency 12

Sources for Immunodeficiency 12

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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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