ADMIO2
MCID: ATM093
MIFTS: 20

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 57 72 29 6
Admio2 57 72
Autoimmune Disease, Multisystem, Infantile-Onset, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
autoimmune disease, multisystem, infantile-onset, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 617006
OMIM Phenotypic Series 57 PS615952
MeSH 44 D001327

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

UniProtKB/Swiss-Prot : 72 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 t cells, and related phenotypes are proteinuria and nephrotic syndrome

More information from OMIM: 617006 PS615952

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 very rare (1%) HP:0000093
2 nephrotic syndrome 31 very rare (1%) HP:0000100
3 colitis 31 very rare (1%) HP:0002583
4 impaired lymphocyte transformation with phytohemagglutinin 31 very rare (1%) HP:0003347
5 minimal change glomerulonephritis 31 very rare (1%) HP:0012579
6 decreased specific pneumococcal antibody level 31 very rare (1%) HP:0012476
7 podocyte foot process effacement 31 very rare (1%) HP:0031266
8 linear igg deposits along the epidermal basement membrane zone 31 very rare (1%) HP:0031540
9 increased cd4:cd8 ratio 31 very rare (1%) HP:0033221
10 autoimmunity 31 HP:0002960

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
T Cells

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

Articles related to Autoimmune Disease, Multisystem, Infantile-Onset, 2:

# Title Authors PMID Year
1
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. 57 6
26783323 2016

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZAP70 NM_001079.3(ZAP70):c.574C>T (p.Arg192Trp) SNV Pathogenic 222951 rs199840952 GRCh37: 2:98349356-98349356
GRCh38: 2:97732893-97732893
2 ZAP70 NM_001079.3(ZAP70):c.1079G>C (p.Arg360Pro) SNV Pathogenic 222950 rs869025224 GRCh37: 2:98351172-98351172
GRCh38: 2:97734709-97734709
3 ZAP70 NM_001079.3(ZAP70):c.1082+8C>T SNV Uncertain significance 471240 rs55933862 GRCh37: 2:98351183-98351183
GRCh38: 2:97734720-97734720
4 ZAP70 NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu) SNV Uncertain significance 1028508 GRCh37: 2:98341592-98341592
GRCh38: 2:97725129-97725129
5 ZAP70 NM_001079.4(ZAP70):c.692C>T (p.Thr231Met) SNV Uncertain significance 1033248 GRCh37: 2:98349474-98349474
GRCh38: 2:97733011-97733011

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

72
# Symbol AA change Variation ID SNP ID
1 ZAP70 p.Arg192Trp VAR_077137 rs199840952
2 ZAP70 p.Arg360Pro VAR_077138 rs869025224

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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