MCID: IMM071
MIFTS: 20

Immunodeficiency 12

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

Aliases & Classifications for Immunodeficiency 12

MalaCards integrated aliases for Immunodeficiency 12:

Name: Immunodeficiency 12 57 75 29 6 73
Imd12 57 75
Combined Immunodeficiency Due to Malt1 Deficiency 59
Immunodeficiency, Type 12 40

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to malt1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
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:

32
immunodeficiency 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615468
Orphanet 59 ORPHA397964
ICD10 via Orphanet 34 D81.8
MeSH 44 D007153
UMLS 73 C3809583

Summaries for Immunodeficiency 12

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor growth

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


Clinical features from OMIM:

615468

Human phenotypes related to Immunodeficiency 12:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
2 osteoporosis 32 occasional (7.5%) HP:0000939
3 immunodeficiency 32 HP:0002721
4 growth delay 32 HP:0001510
5 recurrent bacterial infections 32 HP:0002718
6 recurrent viral infections 32 HP:0004429

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 29 MALT1

Anatomical Context for Immunodeficiency 12

MalaCards organs/tissues related to Immunodeficiency 12:

41
T Cells, Bone, B Cells

Publications for Immunodeficiency 12

Variations for Immunodeficiency 12

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

75
# Symbol AA change Variation ID SNP ID
1 MALT1 p.Ser89Ile VAR_070857 rs398123058

ClinVar genetic disease variations for Immunodeficiency 12:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 MALT1 NM_006785.3(MALT1): c.266G> T (p.Ser89Ile) single nucleotide variant Pathogenic rs398123058 GRCh37 Chromosome 18, 56348458: 56348458
2 MALT1 NM_006785.3(MALT1): c.266G> T (p.Ser89Ile) single nucleotide variant Pathogenic rs398123058 GRCh38 Chromosome 18, 58681226: 58681226
3 MALT1 NM_006785.3(MALT1): c.1739G> C (p.Trp580Ser) single nucleotide variant Pathogenic rs587777337 GRCh38 Chromosome 18, 58742000: 58742000
4 MALT1 NM_006785.3(MALT1): c.1739G> C (p.Trp580Ser) single nucleotide variant Pathogenic rs587777337 GRCh37 Chromosome 18, 56409232: 56409232
5 MALT1 NM_006785.3(MALT1): c.1299A> T (p.Pro433=) single nucleotide variant Benign rs35575273 GRCh37 Chromosome 18, 56400705: 56400705
6 MALT1 NM_006785.3(MALT1): c.1299A> T (p.Pro433=) single nucleotide variant Benign rs35575273 GRCh38 Chromosome 18, 58733473: 58733473
7 MALT1 NM_006785.3(MALT1): c.677A> G (p.Lys226Arg) single nucleotide variant Uncertain significance rs149988025 GRCh38 Chromosome 18, 58709405: 58709405
8 MALT1 NM_006785.3(MALT1): c.677A> G (p.Lys226Arg) single nucleotide variant Uncertain significance rs149988025 GRCh37 Chromosome 18, 56376637: 56376637
9 MALT1 NM_006785.3(MALT1): c.649A> G (p.Arg217Gly) single nucleotide variant Benign rs74847855 GRCh38 Chromosome 18, 58700591: 58700591
10 MALT1 NM_006785.3(MALT1): c.649A> G (p.Arg217Gly) single nucleotide variant Benign rs74847855 GRCh37 Chromosome 18, 56367823: 56367823
11 MALT1 NM_006785.3(MALT1): c.649+9C> T single nucleotide variant Likely benign rs200919386 GRCh38 Chromosome 18, 58700600: 58700600
12 MALT1 NM_006785.3(MALT1): c.649+9C> T single nucleotide variant Likely benign rs200919386 GRCh37 Chromosome 18, 56367832: 56367832
13 MALT1 NM_006785.3(MALT1): c.1921A> G (p.Ile641Val) single nucleotide variant Likely benign rs35533328 GRCh38 Chromosome 18, 58745675: 58745675
14 MALT1 NM_006785.3(MALT1): c.1921A> G (p.Ile641Val) single nucleotide variant Likely benign rs35533328 GRCh37 Chromosome 18, 56412907: 56412907
15 MALT1 NM_006785.3(MALT1): c.210-7C> T single nucleotide variant Likely benign rs768986231 GRCh38 Chromosome 18, 58681163: 58681163
16 MALT1 NM_006785.3(MALT1): c.210-7C> T single nucleotide variant Likely benign rs768986231 GRCh37 Chromosome 18, 56348395: 56348395
17 MALT1 NM_006785.3(MALT1): c.1429T> G (p.Leu477Val) single nucleotide variant Uncertain significance rs756679089 GRCh38 Chromosome 18, 58734335: 58734335
18 MALT1 NM_006785.3(MALT1): c.1429T> G (p.Leu477Val) single nucleotide variant Uncertain significance rs756679089 GRCh37 Chromosome 18, 56401567: 56401567
19 MALT1 NM_006785.3(MALT1): c.2284C> T (p.His762Tyr) single nucleotide variant Uncertain significance rs150624858 GRCh37 Chromosome 18, 56414883: 56414883
20 MALT1 NM_006785.3(MALT1): c.2284C> T (p.His762Tyr) single nucleotide variant Uncertain significance rs150624858 GRCh38 Chromosome 18, 58747651: 58747651
21 MALT1 NM_006785.3(MALT1): c.2351A> T (p.Asp784Val) single nucleotide variant Uncertain significance rs904452707 GRCh37 Chromosome 18, 56414950: 56414950
22 MALT1 NM_006785.3(MALT1): c.2351A> T (p.Asp784Val) single nucleotide variant Uncertain significance rs904452707 GRCh38 Chromosome 18, 58747718: 58747718
23 MALT1 NM_006785.3(MALT1): c.824A> G (p.Tyr275Cys) single nucleotide variant Uncertain significance rs145169756 GRCh38 Chromosome 18, 58709552: 58709552
24 MALT1 NM_006785.3(MALT1): c.824A> G (p.Tyr275Cys) single nucleotide variant Uncertain significance rs145169756 GRCh37 Chromosome 18, 56376784: 56376784

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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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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