PedAM

Pediatric Disease Annotations & Medicines


	blau syndrome

Disease ID	299
Disease	blau syndrome
Definition	An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis.
Synonym	acug arthrocutaneouveal granulamotosis arthrocutaneouveal granulomatosis blaus early onset sarcoidosis early-onset sarcoidosis familial granulomatosis, blau type familial granulomatous inflammatory arthritis, dermatitis and uveitis familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) familial juvenile systemic granulomatosis granulomatosis, familial juvenile systemic granulomatosis, familial, blau type granulomatous inflammatory arthritis, dermatitis and uveitis, familial granulomatous inflammatory arthritis, dermatitis, and uveitis, familial jabs syndrome pediatric granulomatous arthritis synovitis granulomatous with uveitis and cranial neuropathies synovitis, granulomatous, with uveitis and cranial neuropathies synovitis, granulomatous, with uveitis and cranial neuropathies (disorder)
Orphanet	ORPHANET:90340 ORPHANET:90341
OMIM	OMIM:186580
DOID	DOID:0050678
UMLS	C1861303
SNOMED-CT	SNOMEDCT_US_2016_09_01:699861000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0030524 \| paratuberculosis \| 1 C0003864 \| arthritis \| 1 C0003864 \| joint inflammation \| 1 C0039520 \| tenosynovitis \| 1 C0039103 \| synovitis \| 1 C0015974 \| periodic fever \| 1 C0042164 \| uveitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) NOD2 \| 64127 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 4210 \| MEFV \| DISEASES 8767 \| RIPK2 \| DISEASES 10392 \| NOD1 \| DISEASES 329 \| BIRC2 \| DISEASES 4598 \| MVK \| DISEASES 3554 \| IL1R1 \| DISEASES 3569 \| IL6 \| DISEASES 3557 \| IL1RN \| DISEASES 26525 \| IL36RN \| DISEASES 7097 \| TLR2 \| DISEASES 8424 \| BBOX1 \| DISEASES 3553 \| IL1B \| DISEASES 6687 \| SPG7 \| DISEASES 3606 \| IL18 \| DISEASES 11167 \| FSTL1 \| DISEASES 64127 \| NOD2 \| DISEASES 10892 \| MALT1 \| DISEASES 91662 \| NLRP12 \| DISEASES 114548 \| NLRP3 \| DISEASES 3605 \| IL17A \| DISEASES 1822 \| ATN1 \| DISEASES 10803 \| CCR9 \| DISEASES 58484 \| NLRC4 \| DISEASES 3459 \| IFNGR1 \| DISEASES 64170 \| CARD9 \| DISEASES 7099 \| TLR4 \| DISEASES 5696 \| PSMB8 \| DISEASES 7133 \| TNFRSF1B \| DISEASES 7124 \| TNF \| DISEASES 4615 \| MYD88 \| DISEASES 9278 \| ZBTB22 \| DISEASES 81704 \| DOCK8 \| DISEASES 834 \| CASP1 \| DISEASES 4671 \| NAIP \| DISEASES 9051 \| PSTPIP1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) NOD2 \| 16q12.1

Disease ID	299
Disease	blau syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:56) HP:0007432 \| Intermittent generalized erythematous papular rash HP:0002829 \| Arthralgia HP:0000585 \| Band keratopathy HP:0000953 \| Hyperpigmentation of the skin HP:0000988 \| Skin rash HP:0002092 \| Pulmonary arterial hypertension HP:0000964 \| Eczema HP:0006770 \| Clear cell renal cell carcinoma HP:0011505 \| Cystoid macular edema HP:0005310 \| Large vessel vasculitis HP:0005764 \| Polyarticular arthritis HP:0012123 \| Posterior uveitis HP:0100490 \| Camptodactyly of finger HP:0007813 \| Nongranulomatous uveitis HP:0000488 \| Retinopathy HP:0001945 \| Fever HP:0002716 \| Lymphadenopathy HP:0008064 \| Ichthyosis HP:0000598 \| Ear anomaly HP:0000572 \| Visual loss HP:0001386 \| Joint swelling HP:0001744 \| Splenomegaly HP:0000822 \| Hypertension HP:0000501 \| Glaucoma HP:0100769 \| Synovitis HP:0200042 \| Skin ulcer HP:0100654 \| Retrobulbar optic neuritis HP:0012647 \| Abnormal inflammatory response HP:0002094 \| Dyspnea HP:0001392 \| Abnormality of the liver HP:0000217 \| Xerostomia HP:0010286 \| Abnormality of the salivary glands HP:0010628 \| Facial palsy HP:0001376 \| Limitation of joint mobility HP:0000610 \| Abnormality of the choroid HP:0000554 \| Uveitis HP:0001369 \| Arthritis HP:0000491 \| Keratitis HP:0000958 \| Dry skin HP:0001701 \| Pericarditis HP:0000518 \| Cataract HP:0003774 \| Stage 5 chronic kidney disease HP:0001101 \| Iritis HP:0001291 \| Cranial nerve disease HP:0001903 \| Anemia HP:0004942 \| Aortic aneurysm HP:0012219 \| Erythema nodosum HP:0000112 \| Nephropathy HP:0001094 \| Iridocyclitis HP:0001291 \| Abnormality of the cranial nerves HP:0200034 \| Papule HP:0005830 \| Flexion contracture of toe HP:0008046 \| Abnormality of the retinal vasculature HP:0000613 \| Photophobia HP:0000587 \| Abnormality of the optic nerve HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0012089 \| Arteritis \| 1 HP:0001369 \| Arthritis \| 1 HP:0000554 \| Uveitis \| 1 HP:0100769 \| Synovitis \| 1

Disease ID	299
Disease	blau syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0206061 \| interstitial pneumonitis C0002940 \| aneurysm
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104895460	NA	64127	NOD2	umls:C1861303	CLINVAR	NA	0.50156346	NA	NOD2	16	50711316	C	T
rs104895460	11528384	64127	NOD2	umls:C1861303	UNIPROT	CARD15 mutations in Blau syndrome.	0.50156346	2001	NOD2	16	50711316	C	T
rs104895461	NA	64127	NOD2	umls:C1861303	CLINVAR	NA	0.50156346	NA	NOD2	16	50710912	G	A
rs104895461	25416713	64127	NOD2	umls:C1861303	BeFree	Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees.	0.50156346	2015	NOD2	16	50710912	G	A
rs104895461	11528384	64127	NOD2	umls:C1861303	UNIPROT	CARD15 mutations in Blau syndrome.	0.50156346	2001	NOD2	16	50710912	G	A
rs104895462	NA	64127	NOD2	umls:C1861303	CLINVAR	NA	0.50156346	NA	NOD2	16	50710911	C	T
rs104895462	25416713	64127	NOD2	umls:C1861303	BeFree	Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees.	0.50156346	2015	NOD2	16	50710911	C	T
rs104895462	20199415	64127	NOD2	umls:C1861303	BeFree	Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees.	0.50156346	2010	NOD2	16	50710911	C	T
rs104895462	11528384	64127	NOD2	umls:C1861303	UNIPROT	CARD15 mutations in Blau syndrome.	0.50156346	2001	NOD2	16	50710911	C	T
rs104895462	17916199	64127	NOD2	umls:C1861303	BeFree	A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene.	0.50156346	2007	NOD2	16	50710911	C	T
rs104895462	17372104	64127	NOD2	umls:C1861303	BeFree	A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.	0.50156346	2007	NOD2	16	50710911	C	T
rs104895476	22821420	64127	NOD2	umls:C1861303	BeFree	A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?	0.50156346	2012	NOD2	16	50711057	C	G,T
rs104895477	19479836	64127	NOD2	umls:C1861303	BeFree	Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.	0.50156346	2009	NOD2	16	50711058	G	A,T
rs104895477	NA	64127	NOD2	umls:C1861303	CLINVAR	NA	0.50156346	NA	NOD2	16	50711058	G	A,T
rs104895477	15812565	64127	NOD2	umls:C1861303	UNIPROT	A new CARD15 mutation in Blau syndrome.	0.50156346	2005	NOD2	16	50711058	G	A,T
rs104895493	24445386	64127	NOD2	umls:C1861303	BeFree	In our patient, we found a new de novo mutation (E383G) in NOD2 that has been reported only in a family of Japanese patients with BS.	0.50156346	2014	NOD2	16	50711059	A	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.)

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