MCID: ATM094
MIFTS: 21

Autoimmune Disease, Multisystem, Infantile-Onset, 1

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

Aliases & Classifications for Autoimmune Disease, Multisystem, Infantile-Onset, 1

MalaCards integrated aliases for Autoimmune Disease, Multisystem, Infantile-Onset, 1:

Name: Autoimmune Disease, Multisystem, Infantile-Onset, 1 57 75 29 6
Admio1 57 75
Stat3-Related Early-Onset Multisystem Autoimmune Disease 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
variable features
most cases result from a de novo mutation


HPO:

32
autoimmune disease, multisystem, infantile-onset, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoimmune Disease, Multisystem, Infantile-Onset, 1

OMIM : 57 Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). (615952)

MalaCards based summary : Autoimmune Disease, Multisystem, Infantile-Onset, 1, is also known as admio1. An important gene associated with Autoimmune Disease, Multisystem, Infantile-Onset, 1 is STAT3 (Signal Transducer And Activator Of Transcription 3). Affiliated tissues include t cells and bone, and related phenotypes are abnormality of the dentition and hypothyroidism

UniProtKB/Swiss-Prot : 75 Autoimmune disease, multisystem, infantile-onset, 1: A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty.

Related Diseases for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Symptoms & Phenotypes for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skin Nails Hair Skin:
eczema
dermatitis

Immunology:
recurrent infections (in some patients)
hypogammaglobulinemia
serum autoantibodies
altered t-cell regulation
increased numbers of double-negative t cells (cd4-, cd8-)

Head And Neck Teeth:
dental anomalies (in some patients)

Skeletal:
arthritis (in some patients)

Abdomen Gastrointestinal:
celiac disease
autoimmune enteropathy

Hematology:
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune cytopenia

Endocrine Features:
delayed puberty (in some patients)
hypothyroidism (in some patients)
type 1 diabetes mellitus

Respiratory Lung:
interstitial pneumonitis (in some patients)

Neoplasia:
increased susceptibility to large granular lymphocytic t-cell leukemia


Clinical features from OMIM:

615952

Human phenotypes related to Autoimmune Disease, Multisystem, Infantile-Onset, 1:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 32 occasional (7.5%) HP:0000164
2 hypothyroidism 32 occasional (7.5%) HP:0000821
3 delayed puberty 32 occasional (7.5%) HP:0000823
4 eczema 32 HP:0000964
5 arthritis 32 occasional (7.5%) HP:0001369
6 autoimmune hemolytic anemia 32 HP:0001890
7 autoimmune thrombocytopenia 32 HP:0001973
8 celiac disease 32 HP:0002608
9 recurrent infections 32 occasional (7.5%) HP:0002719
10 decreased antibody level in blood 32 HP:0004313
11 short stature 32 HP:0004322
12 interstitial pneumonitis 32 occasional (7.5%) HP:0006515

Drugs & Therapeutics for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Search Clinical Trials , NIH Clinical Center for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Genetic Tests for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Genetic tests related to Autoimmune Disease, Multisystem, Infantile-Onset, 1:

# Genetic test Affiliating Genes
1 Autoimmune Disease, Multisystem, Infantile-Onset, 1 29 STAT3

Anatomical Context for Autoimmune Disease, Multisystem, Infantile-Onset, 1

MalaCards organs/tissues related to Autoimmune Disease, Multisystem, Infantile-Onset, 1:

41
T Cells, Bone

Publications for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Variations for Autoimmune Disease, Multisystem, Infantile-Onset, 1

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Disease, Multisystem, Infantile-Onset, 1:

75
# Symbol AA change Variation ID SNP ID
1 STAT3 p.Lys392Arg VAR_071885 rs587777648
2 STAT3 p.Asn646Lys VAR_071886 rs587777649
3 STAT3 p.Lys658Asn VAR_071887 rs587777650
4 STAT3 p.Thr716Met VAR_071888 rs869312892
5 STAT3 p.Pro330Ser VAR_078445

ClinVar genetic disease variations for Autoimmune Disease, Multisystem, Infantile-Onset, 1:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh37 Chromosome 17, 40481466: 40481466
2 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh38 Chromosome 17, 42329448: 42329448
3 STAT3 NM_139276.2(STAT3): c.1175A> G (p.Lys392Arg) single nucleotide variant Pathogenic rs587777648 GRCh38 Chromosome 17, 42329612: 42329612
4 STAT3 NM_139276.2(STAT3): c.1175A> G (p.Lys392Arg) single nucleotide variant Pathogenic rs587777648 GRCh37 Chromosome 17, 40481630: 40481630
5 STAT3 NM_003150.3(STAT3): c.1938C> G (p.Asn646Lys) single nucleotide variant Pathogenic rs587777649 GRCh37 Chromosome 17, 40474463: 40474463
6 STAT3 NM_003150.3(STAT3): c.1938C> G (p.Asn646Lys) single nucleotide variant Pathogenic rs587777649 GRCh38 Chromosome 17, 42322445: 42322445
7 STAT3 NM_003150.3(STAT3): c.1974G> C (p.Lys658Asn) single nucleotide variant Pathogenic rs587777650 GRCh37 Chromosome 17, 40474427: 40474427
8 STAT3 NM_003150.3(STAT3): c.1974G> C (p.Lys658Asn) single nucleotide variant Pathogenic rs587777650 GRCh38 Chromosome 17, 42322409: 42322409
9 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh37 Chromosome 17, 40468917: 40468917
10 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh38 Chromosome 17, 42316899: 42316899
11 STAT3 NM_139276.2(STAT3): c.2107G> A (p.Ala703Thr) single nucleotide variant Pathogenic rs869312894 GRCh37 Chromosome 17, 40469237: 40469237
12 STAT3 NM_139276.2(STAT3): c.2107G> A (p.Ala703Thr) single nucleotide variant Pathogenic rs869312894 GRCh38 Chromosome 17, 42317219: 42317219
13 STAT3 NM_139276.2(STAT3): c.1988C> T (p.Thr663Ile) single nucleotide variant Pathogenic rs869312889 GRCh37 Chromosome 17, 40474413: 40474413
14 STAT3 NM_139276.2(STAT3): c.1988C> T (p.Thr663Ile) single nucleotide variant Pathogenic rs869312889 GRCh38 Chromosome 17, 42322395: 42322395
15 STAT3 NM_139276.2(STAT3): c.1261G> A (p.Gly421Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869312888 GRCh37 Chromosome 17, 40481448: 40481448
16 STAT3 NM_139276.2(STAT3): c.1261G> A (p.Gly421Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869312888 GRCh38 Chromosome 17, 42329430: 42329430
17 STAT3 NM_139276.2(STAT3): c.1260T> G (p.Asn420Lys) single nucleotide variant Pathogenic rs869312893 GRCh37 Chromosome 17, 40481449: 40481449
18 STAT3 NM_139276.2(STAT3): c.1260T> G (p.Asn420Lys) single nucleotide variant Pathogenic rs869312893 GRCh38 Chromosome 17, 42329431: 42329431
19 STAT3 NM_139276.2(STAT3): c.1057G> T (p.Val353Phe) single nucleotide variant Pathogenic rs869312891 GRCh37 Chromosome 17, 40483542: 40483542
20 STAT3 NM_139276.2(STAT3): c.1057G> T (p.Val353Phe) single nucleotide variant Pathogenic rs869312891 GRCh38 Chromosome 17, 42331524: 42331524
21 STAT3 NM_139276.2(STAT3): c.1032G> C (p.Gln344His) single nucleotide variant Pathogenic rs869312887 GRCh37 Chromosome 17, 40485708: 40485708
22 STAT3 NM_139276.2(STAT3): c.1032G> C (p.Gln344His) single nucleotide variant Pathogenic rs869312887 GRCh38 Chromosome 17, 42333690: 42333690
23 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs869312890 GRCh37 Chromosome 17, 40491346: 40491346
24 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs869312890 GRCh38 Chromosome 17, 42339328: 42339328

Expression for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Search GEO for disease gene expression data for Autoimmune Disease, Multisystem, Infantile-Onset, 1.

Pathways for Autoimmune Disease, Multisystem, Infantile-Onset, 1

GO Terms for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Sources for Autoimmune Disease, Multisystem, Infantile-Onset, 1

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