Details of Disease

General Information of Disease (ID: DISAXTN7)

Disease Name STAT3-related early-onset multisystem autoimmune disease
Synonyms ADMIO; autoimmune disease, multisystem, infantile-onset; autoimmune disease, multisystem, infantile-onset, 1; ADMIO1
Disease Hierarchy
DISRTNJ3: Autoimmune disease, multisystem, infantile-onset
DISNCK1H: Haematopoietic/lymphoid cancer
DISAXTN7: STAT3-related early-onset multisystem autoimmune disease
Disease Identifiers
MONDO ID
MONDO_0014414
UMLS CUI
C4014795
OMIM ID
615952
MedGen ID
863232
Orphanet ID
438159
SNOMED CT ID
1197362009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 19 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADIPOQ TTXKA7D Limited Unknown [1]
DAG1 TT4X7PG moderate Genetic Variation [2]
ERAP2 TTVGS1C moderate Genetic Variation [2]
GPR35 TT254XD moderate Genetic Variation [2]
IL23R TT6H4QR moderate Genetic Variation [2]
LRRK2 TTK0FEA moderate Genetic Variation [2]
TNFSF15 TTEST6I moderate Genetic Variation [2]
ALDH2 TTFLN4T Strong Genetic Variation [3]
FAP TTGPQ0F Strong Genetic Variation [3]
FLT3 TTGJCWZ Strong Genetic Variation [3]
IL2RA TT10Y9E Strong Genetic Variation [3]
JAK1 TT6DM01 Strong Genetic Variation [3]
NTRK1 TTTDVOJ Strong Genetic Variation [3]
PTPN2 TTY8PUS Strong Genetic Variation [3]
STAT3 TTHJT3X Strong Genetic Variation [4]
TNFRSF11B TT2CJ75 Strong Genetic Variation [3]
TPO TT52XDZ Strong Genetic Variation [3]
TYK2 TTBYWP2 Strong Genetic Variation [3]
STAT3 TTH8FZW Definitive Autosomal dominant [5]
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⏷ Show the Full List of 19 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
KCNH7 DT3WXPI Strong Genetic Variation [3]
SLC22A5 DT3HUVD Strong Genetic Variation [3]
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This Disease Is Related to 46 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADIPOQ OTNX23LE Limited Unknown [1]
ADGRL2 OTCXD2YR moderate Genetic Variation [2]
ANKRD30A OTJXYAE5 moderate Genetic Variation [2]
ANKRD55 OT62KZII moderate Genetic Variation [2]
ATG16L1 OTEOYC5D moderate Genetic Variation [2]
ATXN2L OTP5M3R9 moderate Genetic Variation [2]
C1orf141 OTASPHL0 moderate Genetic Variation [2]
CARD9 OTJ81AWD moderate Genetic Variation [2]
CRB1 OTXYUNG0 moderate Genetic Variation [2]
FNBP1 OTSJ5KKA moderate Genetic Variation [2]
FUT2 OTLXM6WI moderate Genetic Variation [2]
INS-IGF2 OTZR74BO moderate Genetic Variation [2]
LURAP1L OTSJ29M5 moderate Genetic Variation [2]
NKD1 OTY3MO97 moderate Genetic Variation [2]
SUOX OTEJQ9FC moderate Genetic Variation [2]
ADCY7 OTAWMGP3 Strong Genetic Variation [3]
ARHGAP31 OTUYTF4I Strong Genetic Variation [3]
ARID5B OTUQ4CQY Strong Genetic Variation [3]
BACH2 OT17GS18 Strong Genetic Variation [3]
C12orf42 OTRQP2SW Strong Genetic Variation [3]
C1QTNF6 OT57EPQC Strong Genetic Variation [3]
CAMK4 OT47RDGV Strong Genetic Variation [3]
CCDC88B OTEDUI2J Strong Genetic Variation [3]
CCN4 OT69BER9 Strong Genetic Variation [3]
CD226 OT4UG0KB Strong Genetic Variation [3]
CPT1C OT8F1MBF Strong Genetic Variation [3]
ELMO1 OTY2ORXK Strong Genetic Variation [3]
IRF5 OT8SIIAP Strong Genetic Variation [3]
LPP OT6TU8SE Strong Genetic Variation [3]
MB21D2 OT5C4VVU Strong Genetic Variation [3]
NEURL4 OTRDTYNV Strong Genetic Variation [3]
PLEKHA1 OT66PF24 Strong Genetic Variation [3]
PLXNC1 OTJ5XKYY Strong Genetic Variation [3]
PSMD5 OTYLM6S2 Strong Genetic Variation [3]
PTPN22 OTDCNTC3 Strong Genetic Variation [3]
PUS10 OTFFJWZX Strong Genetic Variation [3]
RAB5B OT06PN42 Strong Genetic Variation [3]
RAB5C OTQE5QQ2 Strong Genetic Variation [3]
RASGRP1 OTX9WN2E Strong Genetic Variation [3]
RMI2 OTA0HP4S Strong Genetic Variation [3]
SH2D2A OTQSKW7U Strong Genetic Variation [3]
SPATA13 OTQ8NPAW Strong Genetic Variation [3]
STAT4 OTAK3VFR Strong Genetic Variation [3]
TG OT3ELHIJ Strong Genetic Variation [3]
TMEM131 OT72FBLT Strong Genetic Variation [3]
STAT3 OTAAGKYZ Definitive Autosomal dominant [5]
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⏷ Show the Full List of 46 DOT(s)

References

1 Genomic structure and mutations in adipose-specific gene, adiponectin. Int J Obes Relat Metab Disord. 2000 Jul;24(7):861-8. doi: 10.1038/sj.ijo.0801244.
2 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.Nat Med. 2015 Sep;21(9):1018-27. doi: 10.1038/nm.3933. Epub 2015 Aug 24.
3 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.Am J Hum Genet. 2019 Jan 3;104(1):65-75. doi: 10.1016/j.ajhg.2018.11.008. Epub 2018 Dec 27.
4 An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. Diabetes. 2017 Apr;66(4):1022-1029. doi: 10.2337/db16-0867. Epub 2017 Jan 10.
5 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.