PedAM

Pediatric Disease Annotations & Medicines


	familial cold autoinflammatory syndrome

Disease ID	427
Disease	familial cold autoinflammatory syndrome
Definition	An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by short episodes of fever, rash, and arthralgia after exposure to cold or rapid decrease in temperature.
Synonym	caps1 cold hypersensitivity cold induced autoinflammatory syndrome, familial cold urticaria, familial cold urticarias, familial cold-induced autoinflammatory syndrome, familial cryopyrin-associated periodic syndrome 1 familial cold autoinflammatory syndrome 1 familial cold induced autoinflammatory syndrome familial cold urticaria familial cold urticaria (disorder) familial cold urticarias familial cold-induced autoinflammatory syndrome fcas fcas1 fcu urticaria, familial cold urticarias, familial cold
Orphanet	ORPHANET:47045
OMIM	OMIM:120100
UMLS	C0343068
SNOMED-CT	SNOMEDCT_US_2016_09_01:238687000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0022568 \| keratitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NLRP3 \| 114548 \| CLINVAR;CTD_human;ORPHANET;UNIPROT NLRC4 \| 58484 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:31) 4210 \| MEFV \| DISEASES 4598 \| MVK \| DISEASES 29108 \| PYCARD \| DISEASES 22933 \| SIRT2 \| DISEASES 1401 \| CRP \| DISEASES 3569 \| IL6 \| DISEASES 3557 \| IL1RN \| DISEASES 26525 \| IL36RN \| DISEASES 4069 \| LYZ \| DISEASES 3553 \| IL1B \| DISEASES 80013 \| FAM188A \| DISEASES 3606 \| IL18 \| DISEASES 64127 \| NOD2 \| DISEASES 3556 \| IL1RAP \| DISEASES 91662 \| NLRP12 \| DISEASES 114548 \| NLRP3 \| DISEASES 79092 \| CARD14 \| DISEASES 31 \| ACACA \| DISEASES 6288 \| SAA1 \| DISEASES 1822 \| ATN1 \| DISEASES 5336 \| PLCG2 \| DISEASES 58484 \| NLRC4 \| DISEASES 9447 \| AIM2 \| DISEASES 6280 \| S100A9 \| DISEASES 338442 \| HCAR2 \| DISEASES 838 \| CASP5 \| DISEASES 55655 \| NLRP2 \| DISEASES 834 \| CASP1 \| DISEASES 5027 \| P2RX7 \| DISEASES 9051 \| PSTPIP1 \| DISEASES 22861 \| NLRP1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	427
Disease	familial cold autoinflammatory syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0003326 \| Muscle pain HP:0001974 \| Leukocytosis HP:0000509 \| Conjunctivitis HP:0002315 \| Headaches HP:0001954 \| Increased body temperature, episodic HP:0001917 \| Renal amyloidosis HP:0002829 \| Arthralgias
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000491 \| Corneal inflammation \| 1

Disease ID	427
Disease	familial cold autoinflammatory syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0268382 \| renal amyloidosis
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:14)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908146	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247424765	C	T
rs121908147	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247424041	G	A,C
rs121908147	11687797	114548	NLRP3	umls:C0343068	UNIPROT	This resulted in the identification of four distinct mutations in a gene that segregated with the disorder in three families with FCAS and one family with MWS.	0.566786047	2001	NLRP3	1	247424041	G	A,C
rs121908148	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247425329	A	G
rs121908149	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247424504	C	T
rs121908150	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247424227	C	T
rs121908151	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247425154	G	C
rs121908152	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247425167	T	C
rs121908153	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247424356	G	A,C
rs121908154	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247424375	T	C
rs145268073	15593220	114548	NLRP3	umls:C0343068	UNIPROT	The clinical data suggested a diagnosis of familial cold-induced autoinflammatory syndrome in 3 families, CINCA/NOMID syndrome in 3 others, and a possible Muckle-Wells syndrome, whereas mutational analysis showed different CIAS1/PYPAF1/NALP3 missense mutations in 5 families.	0.566786047	2004	NLRP3	1	247424912	G	A,C
rs28937896	12522564	114548	NLRP3	umls:C0343068	BeFree	Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.	0.566786047	2003	NLRP3	1	247424507	T	C
rs28937896	12522564	114548	NLRP3	umls:C0343068	UNIPROT	Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.	0.566786047	2003	NLRP3	1	247424507	T	C
rs28937896	NA	114548	NLRP3	umls:C0343068	CLINVAR	NA	0.566786047	NA	NLRP3	1	247424507	T	C

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001917	Renal amyloidosis	MP:0001777	abnormal body temperature homeostasis;

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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