MCID: ATM093
MIFTS: 18

Autoimmune Disease, Multisystem, Infantile-Onset, 2

Categories: Genetic diseases, Bone diseases, Blood diseases, Rare diseases

Aliases & Classifications for Autoimmune Disease, Multisystem, Infantile-Onset, 2

MalaCards integrated aliases for Autoimmune Disease, Multisystem, Infantile-Onset, 2:

Name: Autoimmune Disease, Multisystem, Infantile-Onset, 2 57 75 29 6
Admio2 57 75
Autoimmune Disease, Multisystem, Infantile-Onset, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
a brother and sister from 1 family have been reported (last curated june 2016)
both patients had resolution of symptoms after hematopoietic stem cell transplantation


HPO:

32
autoimmune disease, multisystem, infantile-onset, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617006
MeSH 44 D001327

Summaries for Autoimmune Disease, Multisystem, Infantile-Onset, 2

UniProtKB/Swiss-Prot : 75 Autoimmune disease, multisystem, infantile-onset, 2: An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome.

MalaCards based summary : Autoimmune Disease, Multisystem, Infantile-Onset, 2, is also known as admio2. An important gene associated with Autoimmune Disease, Multisystem, Infantile-Onset, 2 is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include skin and t cells, and related phenotypes are proteinuria and nephrotic syndrome

Description from OMIM: 617006

Related Diseases for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Diseases in the Autoimmune Disease, Multisystem, Infantile-Onset, 1 family:

Autoimmune Disease, Multisystem, Infantile-Onset, 2

Symptoms & Phenotypes for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
inflammatory colitis

Skin Nails Hair Skin:
blistering skin disease
bullous pemphigoid

Hematology:
autoantibodies to factor viii (1 boy)

Genitourinary Kidneys:
nephrotic syndrome (1 patient)
igg deposition (1 patient)
effacement of podocytes (1 patient)
minimal change disease (1 patient)
proteinuria

Endocrine Features:
autoimmune hypothyroidism (1 patient)

Immunology:
autoimmune disorder
autoantibody production
decreased numbers of cd8+ t cells
diminished proliferative response of t cells


Clinical features from OMIM:

617006

Human phenotypes related to Autoimmune Disease, Multisystem, Infantile-Onset, 2:

32
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 nephrotic syndrome 32 occasional (7.5%) HP:0000100
3 minimal change glomerulonephritis 32 occasional (7.5%) HP:0012579

Drugs & Therapeutics for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Search Clinical Trials , NIH Clinical Center for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Genetic Tests for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Genetic tests related to Autoimmune Disease, Multisystem, Infantile-Onset, 2:

# Genetic test Affiliating Genes
1 Autoimmune Disease, Multisystem, Infantile-Onset, 2 29 ZAP70

Anatomical Context for Autoimmune Disease, Multisystem, Infantile-Onset, 2

MalaCards organs/tissues related to Autoimmune Disease, Multisystem, Infantile-Onset, 2:

41
Skin, T Cells

Publications for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Variations for Autoimmune Disease, Multisystem, Infantile-Onset, 2

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Disease, Multisystem, Infantile-Onset, 2:

75
# Symbol AA change Variation ID SNP ID
1 ZAP70 p.Arg192Trp VAR_077137 rs199840952
2 ZAP70 p.Arg360Pro VAR_077138 rs869025224

ClinVar genetic disease variations for Autoimmune Disease, Multisystem, Infantile-Onset, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZAP70 NM_001079.3(ZAP70): c.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs199840952 GRCh37 Chromosome 2, 98349356: 98349356
2 ZAP70 NM_001079.3(ZAP70): c.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs199840952 GRCh38 Chromosome 2, 97732893: 97732893
3 ZAP70 NM_001079.3(ZAP70): c.1079G> C (p.Arg360Pro) single nucleotide variant Pathogenic rs869025224 GRCh38 Chromosome 2, 97734709: 97734709
4 ZAP70 NM_001079.3(ZAP70): c.1079G> C (p.Arg360Pro) single nucleotide variant Pathogenic rs869025224 GRCh37 Chromosome 2, 98351172: 98351172

Expression for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Search GEO for disease gene expression data for Autoimmune Disease, Multisystem, Infantile-Onset, 2.

Pathways for Autoimmune Disease, Multisystem, Infantile-Onset, 2

GO Terms for Autoimmune Disease, Multisystem, Infantile-Onset, 2

Sources for Autoimmune Disease, Multisystem, Infantile-Onset, 2

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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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