ADMIO2
MCID: ATM093
MIFTS: 18

Autoimmune Disease, Multisystem, Infantile-Onset, 2 (ADMIO2)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin 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 58 76 30 6
Admio2 58 76
Autoimmune Disease, Multisystem, Infantile-Onset, Type 2 41

Characteristics:

OMIM:

58
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:

33
autoimmune disease, multisystem, infantile-onset, 2:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 617006
MeSH 45 D001327

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

UniProtKB/Swiss-Prot : 76 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 nephrotic syndrome and minimal change glomerulonephritis

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

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

33
# Description HPO Frequency HPO Source Accession
1 nephrotic syndrome 33 occasional (7.5%) HP:0000100
2 minimal change glomerulonephritis 33 occasional (7.5%) HP:0012579
3 proteinuria 33 HP:0000093
4 autoimmunity 33 HP:0002960

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
proteinuria
nephrotic syndrome (1 patient)
igg deposition (1 patient)
effacement of podocytes (1 patient)
minimal change disease (1 patient)

Skin Nails Hair Skin:
blistering skin disease
bullous pemphigoid

Hematology:
autoantibodies to factor viii (1 boy)

Abdomen Gastrointestinal:
inflammatory colitis

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

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 30 ZAP70

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

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

42
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:

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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