PedAM

Pediatric Disease Annotations & Medicines


	omenn syndrome

Disease ID	394
Disease	omenn syndrome
Definition	An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.
Synonym	familial reticuloendothelioses familial reticuloendotheliosis omenn's syndrome omenns syndrome reticuloendothelioses, familial reticuloendotheliosis, familial syndrome, omenn syndrome, omenn's
Orphanet	ORPHANET:39041
OMIM	OMIM:603554
DOID	DOID:0060010
UMLS	C2700553
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0085110 \| severe combined immunodeficiency \| 1 C0085110 \| severe combined immunodeficiency syndrome \| 1 C0085110 \| severe combined immunodefic \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) ADA \| 100 \| ORPHANET RAG1 \| 5896 \| ORPHANET;UNIPROT RAG2 \| 5897 \| ORPHANET;UNIPROT DCLRE1C \| 64421 \| ORPHANET;UNIPROT LIG4 \| 3981 \| ORPHANET IL7R \| 3575 \| ORPHANET IL2RG \| 3561 \| ORPHANET RMRP \| 6023 \| ORPHANET CHD7 \| 55636 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:48) 3558 \| IL2 \| DISEASES 3587 \| IL10RA \| DISEASES 4055 \| LTBR \| DISEASES 3565 \| IL4 \| DISEASES 3567 \| IL5 \| DISEASES 5335 \| PLCG1 \| DISEASES 5184 \| PEPD \| DISEASES 6774 \| STAT3 \| DISEASES 7535 \| ZAP70 \| DISEASES 8915 \| BCL10 \| DISEASES 5295 \| PIK3R1 \| DISEASES 3578 \| IL9 \| DISEASES 115650 \| TNFRSF13C \| DISEASES 326 \| AIRE \| DISEASES 2215 \| FCGR3B \| DISEASES 3600 \| IL15 \| DISEASES 5896 \| RAG1 \| DISEASES 1493 \| CTLA4 \| DISEASES 84522 \| JAGN1 \| DISEASES 3575 \| IL7R \| DISEASES 5897 \| RAG2 \| DISEASES 9448 \| MAP4K4 \| DISEASES 10892 \| MALT1 \| DISEASES 23765 \| IL17RA \| DISEASES 1946 \| EFNA5 \| DISEASES 3836 \| KPNA1 \| DISEASES 3841 \| KPNA5 \| DISEASES 3981 \| LIG4 \| DISEASES 10803 \| CCR9 \| DISEASES 6772 \| STAT1 \| DISEASES 4860 \| PNP \| DISEASES 2214 \| FCGR3A \| DISEASES 7062 \| TCHH \| DISEASES 639 \| PRDM1 \| DISEASES 58528 \| RRAGD \| DISEASES 959 \| CD40LG \| DISEASES 64170 \| CARD9 \| DISEASES 1503 \| CTPS1 \| DISEASES 100 \| ADA \| DISEASES 3561 \| IL2RG \| DISEASES 10673 \| TNFSF13B \| DISEASES 50943 \| FOXP3 \| DISEASES 64421 \| DCLRE1C \| DISEASES 84433 \| CARD11 \| DISEASES 55636 \| CHD7 \| DISEASES 81704 \| DOCK8 \| DISEASES 5238 \| PGM3 \| DISEASES 6023 \| RMRP \| DISEASES
Locus	Symbol \| Locus(Total Locus:9) CHD7 \| 8q12.2 LIG4 \| 13q33.3 IL7R \| 5p13.2 RAG1 \| 11p12 RAG2 \| 11p13 ADA \| 20q13.12 RMRP \| 9p13.3 DCLRE1C \| 10p13 IL2RG \| Xq13.1

Disease ID	394
Disease	omenn syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:28) HP:0002090 \| Pneumonia HP:0001974 \| Leukocytosis HP:0001831 \| Short toe HP:0001019 \| Erythroderma HP:0002716 \| Lymphadenopathy HP:0002960 \| Autoimmunity HP:0001945 \| Fever HP:0001596 \| Alopecia HP:0100646 \| Thyroiditis HP:0004332 \| Abnormality of lymphocytes HP:0001744 \| Splenomegaly HP:0000969 \| Edema HP:0002240 \| Hepatomegaly HP:0001072 \| Thickened skin HP:0000100 \| Nephrotic syndrome HP:0000989 \| Pruritus HP:0100806 \| Sepsis HP:0100840 \| Aplasia/Hypoplasia of the eyebrow HP:0001880 \| Eosinophilia HP:0000821 \| Hypothyroidism HP:0000958 \| Dry skin HP:0007549 \| Desquamation of skin soon after birth HP:0004430 \| Severe combined immunodeficiency HP:0001903 \| Anemia HP:0002665 \| Lymphoma HP:0002028 \| Chronic diarrhea HP:0001508 \| Failure to thrive HP:0000944 \| Abnormality of the metaphyses
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0001880 \| Eosinophilia \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0004430 \| Severe combined immunodeficiency \| 1

Disease ID	394
Disease	omenn syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0302148 \| thrombus
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:25)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894284	9630231	5896	RAG1	umls:C2700553	UNIPROT	We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.	0.24	1998	RAG1	11	36574986	G	A
rs104894285	9630231	5896	RAG1	umls:C2700553	UNIPROT	We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.	0.24	1998	RAG1	11	36574985	C	T
rs104894286	18463379	5896	RAG1	umls:C2700553	UNIPROT	An immunodeficiency disease with RAG mutations and granulomas.	0.24	2008	RAG1	11	36575514	G	A
rs104894289	10606976	5896	RAG1	umls:C2700553	UNIPROT	Omenn syndrome was recently found to be caused by missense mutations in RAG1 or RAG2 gene that result in partial V(D)J recombination activity.	0.24	2000	RAG1	11	36574490	C	T
rs104894290	9630231	5896	RAG1	umls:C2700553	UNIPROT	We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.	0.24	1998	RAG1	11	36576039	A	G
rs104894291	19912631	5896	RAG1	umls:C2700553	UNIPROT	Omenn syndrome (OS) shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C.	0.24	2009	RAG1	11	36574491	G	A,T
rs104894291	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574491	G	A,T
rs104894292	9630231	5896	RAG1	umls:C2700553	UNIPROT	We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.	0.24	1998	RAG1	11	36574590	A	G
rs104894298	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574823	C	T
rs121918571	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574287	G	A
rs141524540	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574607	A	G
rs150739647	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36576228	G	A,C
rs193922461	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574870	G	T
rs199474676	21771083	5896	RAG1	umls:C2700553	UNIPROT	Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.	0.24	2011	RAG1	11	36575399	C	T
rs199474677	21624848	5896	RAG1	umls:C2700553	UNIPROT	Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.	0.24	2011	RAG1	11	36574665	T	A
rs199474679	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574601	G	A
rs199474681	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574981	G	T
rs199474682	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574505	T	C
rs199474684	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574533	G	A
rs199474685	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574635	C	T
rs199474686	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36574725	G	A
rs199474687	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36575562	A	G,T
rs199474688	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36575174	C	T
rs199474689	11133745	5896	RAG1	umls:C2700553	UNIPROT	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.	0.24	2001	RAG1	11	36575310	A	G
rs199474691	10606976	5896	RAG1	umls:C2700553	UNIPROT	Omenn syndrome was recently found to be caused by missense mutations in RAG1 or RAG2 gene that result in partial V(D)J recombination activity.	0.24	2000	RAG1	11	36575958	T	C,G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)