Details of Disease

Disease Name

Omenn syndrome

severe combined immunodeficiency with hypereosinophilia; reticuloendotheliosis, familial, with eosinophilia; reticuloendotheliosis familial with eosinophilia; Omenn syndrome; combined immunodeficiency with hypereosinophilia

Definition

An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).

Disease Hierarchy

DIS8RTG7: Familial severe combined immunodeficiency

DIS225UQ: T-B- severe combined immunodeficiency

DIS2C887: Omenn syndrome

Disease Identifiers

MONDO ID

MONDO_0011338

MESH ID

D016511

UMLS CUI

C2700553

OMIM ID

603554

MedGen ID

398130

Orphanet ID

39041

General Information of Disease (ID: DIS2C887)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL7R	TTAWI51	Supportive	Autosomal recessive	[1]
ADA	TTLP57V	Strong	Genetic Variation	[2]
CD3E	TTZAT79	Strong	Genetic Variation	[3]
IL21R	TTZO9B0	Strong	Biomarker	[4]
IL7R	TTAWI51	Strong	Genetic Variation	[5]
JAK3	TTT7PJU	Strong	Biomarker	[6]
PTPRC	TTUS45N	Strong	Biomarker	[7]
TFRC	TT8MG4S	Strong	Biomarker	[8]
ZAP70	TTUMHT8	Strong	Genetic Variation	[9]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADA	DEDQHBV	Supportive	Autosomal recessive	[1]
AK2	DEY1FJO	Strong	Biomarker	[10]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRM3	OT6574BF	Limited	Biomarker	[11]
ADA	OTOX2872	Supportive	Autosomal recessive	[1]
CHD7	OTHNIZWZ	Supportive	Autosomal recessive	[1]
DCLRE1C	OTW3KB1I	Supportive	Autosomal recessive	[1]
IL2RG	OTRZ3OMY	Supportive	Autosomal recessive	[1]
IL7R	OTBMFLQQ	Supportive	Autosomal recessive	[1]
LIG4	OT40DNXU	Supportive	Autosomal recessive	[1]
AIRE	OTA7G1Y1	moderate	Altered Expression	[12]
CD3D	OTRBLP0R	Strong	Biomarker	[13]
CORO1A	OTVAZOHC	Strong	Biomarker	[14]
RAG2	OTG9UYTW	Strong	Autosomal recessive	[15]
RAG1	OTV131E4	Definitive	Autosomal recessive	[16]
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⏷ Show the Full List of 12 DOT(s)

References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.Clin Immunol. 2011 Sep;140(3):284-90. doi: 10.1016/j.clim.2011.04.011. Epub 2011 May 7.
3	Anti-CD3 mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications.Blood. 2012 Aug 2;120(5):1005-14. doi: 10.1182/blood-2012-01-406827. Epub 2012 Jun 21.
4	Novel genetic variation of human interleukin-21 receptor is associated with elevated IgE levels in females.Genes Immun. 2003 Apr;4(3):228-33. doi: 10.1038/sj.gene.6363954.
5	Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.Hum Immunol. 2014 Jul;75(7):662-6. doi: 10.1016/j.humimm.2014.04.006. Epub 2014 Apr 20.
6	Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.Immunol Rev. 2005 Feb;203:127-42. doi: 10.1111/j.0105-2896.2005.00220.x.
7	CD45-deficient severe combined immunodeficiency caused by uniparental disomy.Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10456-61. doi: 10.1073/pnas.1202249109. Epub 2012 Jun 11.
8	A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7.
9	Defining combined immunodeficiency.J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029. Epub 2012 Jun 2.
10	Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet. 2009 Jan;41(1):101-5. doi: 10.1038/ng.265. Epub 2008 Nov 30.
11	Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.Clin Exp Immunol. 2014 Jun;176(3):380-6. doi: 10.1111/cei.12273.
12	Defect of regulatory T cells in patients with Omenn syndrome.J Allergy Clin Immunol. 2010 Jan;125(1):209-16. doi: 10.1016/j.jaci.2009.10.023.
13	Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest. 2004 Nov;114(10):1512-7. doi: 10.1172/JCI22588.
14	Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.Clin Immunol. 2009 Apr;131(1):24-30. doi: 10.1016/j.clim.2008.11.002. Epub 2008 Dec 20.
15	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
16	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.