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	familial cold autoinflammatory syndrome

Disease ID	793
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:3) C0022568 \| keratitis \| 1 C0042109 \| urticarial \| 1 C0002895 \| sickle cell disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 114548 \| NLRP3 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 91662 \| NLRP12 \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:16) 31 \| ACACA \| 1.561 \| DISEASES 9447 \| AIM2 \| 1.768 \| DISEASES 1822 \| ATN1 \| 2.634 \| DISEASES 79092 \| CARD14 \| 2.533 \| DISEASES 834 \| CASP1 \| 4.079 \| DISEASES 838 \| CASP5 \| 2.404 \| DISEASES 338442 \| HCAR2 \| 2.144 \| DISEASES 58484 \| NLRC4 \| 2.608 \| DISEASES 22861 \| NLRP1 \| 1.817 \| DISEASES 55655 \| NLRP2 \| 2.674 \| DISEASES 114548 \| NLRP3 \| 6.681 \| DISEASES 5027 \| P2RX7 \| 1.28 \| DISEASES 5336 \| PLCG2 \| 2.776 \| DISEASES 9051 \| PSTPIP1 \| 2.988 \| DISEASES 6280 \| S100A9 \| 1.293 \| DISEASES 6288 \| SAA1 \| 1.835 \| DISEASES
Locus	(Waiting for update.)

Disease ID	793
Disease	familial cold autoinflammatory syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0001974 \| Leukocytosis HP:0001917 \| Renal amyloidosis HP:0002315 \| Headaches HP:0000509 \| Conjunctivitis HP:0001954 \| Increased body temperature, episodic HP:0002829 \| Arthralgias HP:0003326 \| Muscle pain
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0000491 \| Corneal inflammation \| 1 HP:0012531 \| Pain \| 1

Disease ID	793
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.)

Text Mining Genotype(Total 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:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002829	Arthralgia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000509	Conjunctivitis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002315	Headache	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001954	Episodic fever	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001974	Leukocytosis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001917	Renal amyloidosis	MP:0011085	postnatal lethality, complete penetrance	premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)

Disease ID	793
Disease	familial cold autoinflammatory syndrome
Case	(Waiting for update.)

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