DiseaseID 4887
周期性综合征
disease
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural heari
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 16Herb: 12Symptom: 12Target: 24Links: 64
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4887
- Core Entity Id
- 61304
- Source Entity Count
- 1
- Preferred Name
- Periodic Syndrome
- Name Cn
- 周期性综合征
- Name Pinyin
- Zhou Qi Xing Zong He Zheng
- Name En
- Periodic Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Immune System Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Immune System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitydisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural heari
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Periodic Syndrome
Role
preferred
Name
Cinca Syndrome
Role
preferred
Name
Cryopyrin-Associated Periodic Syndromes
Role
preferred
Name
Deficiency Of Mevalonate Kinase
Role
preferred
Name
Familial Cold Autoinflammatory Syndrome 1
Role
preferred
Name
Familial Cold Autoinflammatory Syndrome 3
Role
preferred
Name
Familial Cold Autoinflammatory Syndrome 4
Role
preferred
Name
Familial Cold Urticaria
Role
preferred
Name
Familial Mediterranean Fever
Role
preferred
Name
Familial Mediterranean Fever, Autosomal Dominant
Role
preferred
Name
Hereditary Amyloid Nephropathy
Role
preferred
Name
Mevalonic Aciduria
Role
preferred
Name
Muckle-Wells Syndrome
Role
preferred
Name
Chronic Infantile Neurological, Cutaneous, And Articular Syndrome
Role
preferred
Name
Familial Non-Neuropathic Amyloidosis
Role
preferred
Name
Gracile Syndrome
Role
preferred
Name
Hyper-Igd Syndrome
Role
preferred
Name
Hyperimmunoglobulinemia D
Role
preferred
Name
Multiple Symmetric Lipomatosis
Role
preferred
Name
Oxoglutaricaciduria
Role
preferred
Name
PLCG2-associated antibody deficiency and immune dysregulation
Role
preferred
Name
Periodic Fever Syndrome
Role
preferred
Name
Periodic Fever, Familial, Autosomal Dominant
Role
preferred
Name
TNF receptor-associated periodic fever syndrome (TRAPS)
Role
preferred
Name
Tumor Necrosis Factor Receptor Associated Periodic Syndrome [Traps]
Role
preferred
Name
Urticaria Due To Cold And Heat
Role
preferred
Name
ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
Role
alias
Name
Autosomal Dominant Familial Periodic Fever
Role
alias
Name
Benign Paroxysmal Peritonitis
Role
alias
Name
Benign Recurrent Polyserositis
Role
alias
Name
CAPS1
Role
alias
Name
CAPS2
Role
alias
Name
COLD HYPERSENSITIVITY
Role
alias
Name
COLD URTICARIA, FAMILIAL
Role
alias
Name
COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL
Role
alias
Name
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
Role
alias
Name
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2
Role
alias
Name
Chronic Infantile Neurological Cutaneous Articular Syndrome
Role
alias
Name
Complete Mevalonate Kinase Deficiency
Role
alias
Name
FACU
Role
alias
Name
FAMILIAL ATYPICAL COLD URTICARIA
Role
alias
Name
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE
Role
alias
Name
FCAS
Role
alias
Name
FCAS1
Role
alias
Name
FCAS3
Role
alias
Name
FCAS4
Role
alias
Name
FCU
Role
alias
Name
FMF
Role
alias
Name
FMF, AUTOSOMAL DOMINANT
Role
alias
Name
Familial Cold Autoinflammatory Syndrome
Role
alias
Name
Familial Paroxysmal Polyserositis
Role
alias
Name
IOMID Syndrome
Role
alias
Name
Infantile-onset Multisystem Inflamma
Role
alias
Name
Kinase Deficiencies, Mevalonate
Role
alias
Name
MEVA
Role
alias
Name
MVA
Role
alias
Name
MWS
Role
alias
Name
Mevalonate Kinase Deficiency
Role
alias
Name
NOMID Syndrome
Role
alias
Name
Neonatal-onset Multisystem Inflammatory Disease
Role
alias
Name
Neutrophilic Urticaria
Role
alias
Name
Non-Neuropathic Heredofamilial Amyloidosis
Role
alias
Name
PLAID
Role
alias
Name
POLYSEROSITIS, FAMILIAL PAROXYSMAL
Role
alias
Name
POLYSEROSITIS, RECURRENT
Role
alias
Name
Periodic Disease
Role
alias
Name
Prieur-Griscelli Syndrome
Role
alias
Name
Tnf Receptor-Associated Periodic Syndrome (Traps)
Role
alias
Name
Traps
Role
alias
Name
UDA SYNDROME
Role
alias
Name
URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002354HBDIS004031HBDIS006292HBDIS008032HBDIS008057HBDIS008123HBDIS008807HBDIS009018HBDIS010369HBDIS013094HBDIS014862HBDIS016793HBDIS018598HBDIS019065HBDIS021359HBDIS022865HBDIS023106HBDIS025875HBDIS027334HBDIS027832
Me Sh
D010505D054078D056587
Omim
120100134610142680191900249100260920607115610377614468616115
Umls
C0023804C0024445C0031069C0268390C0342731C0343068C0398691C0409818C0585274C1275126C1719313C1851347C1864002C1959626C2316212C2752074C2931642C3280914C4015276
Icd10
E85.0E88.8L50.2M04.1M04.2
Med Dra
10016207100645691006457010072219
Sym Map
SMDE00183SMDE00910SMDE01152SMDE01186SMDE01385SMDE01420SMDE02490SMDE02778SMDE03328SMDE03443SMDE03715SMDE03822SMDE04117SMDE04709SMDE07651SMDE07756SMDE09403SMDE12071
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0031069C0157742C0268390C0342611C0342731C0343068C0398691C0409818C0585274C1275126C1719313C1851347C1959626C2316212C3280914C3889979C4015276C4268691C4551895C4722480
Orphanet
145123982931329603423434704553693575
Umls Sty
T037T047
Me Sh Class
C10C15C16C17C18C20C23
Etcm Disease
Cinca SyndromeFamilial Cold Autoinflammatory Syndrome 1Familial Cold Autoinflammatory Syndrome 3Familial Cold Autoinflammatory Syndrome 4Familial Mediterranean FeverFamilial Mediterranean Fever, Autosomal DominantGracile SyndromeHyper-Igd SyndromeMevalonic AciduriaMuckle-Wells Syndrome
Tcmbank Disease
100671066713111146251504170119862212402232524278248772950532217458461465177111753690109761
Itcmdb Generated
ITX-DISEASE-23C720779A34ITX-DISEASE-28AECAB64031ITX-DISEASE-335C7F5B06C6ITX-DISEASE-3852DA950361ITX-DISEASE-552C8A7B8010ITX-DISEASE-6C6D59C86505ITX-DISEASE-913141425A3DITX-DISEASE-9EDB9DA25FE4ITX-DISEASE-AFA5133D663DITX-DISEASE-C29135300CDFITX-DISEASE-CF3AEE24E409ITX-DISEASE-CF6179F9FF64ITX-DISEASE-FC96EEE81187
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Cinca Syndrome Details pageDisease Familial Cold Autoinflammatory Syndrome 1 Details pageDisease Familial Cold Autoinflammatory Syndrome 3 Details pageDisease Familial Cold Autoinflammatory Syndrome 4 Details pageDisease Familial Mediterranean Fever Details pageDisease Familial Mediterranean Fever, Autosomal Dominant Details pageDisease Gracile Syndrome Details pageDisease Hyper-Igd Syndrome Details pageDisease Mevalonic Aciduria Details pageDisease Muckle-Wells Syndrome Details page
Do Class Name
disease of anatomical entitydisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Link Disease Id
1152.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Umls Disease Type
Disease or SyndromeInjury or Poisoning
Basic Information
Disease Name
Cinca Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Skin diseases
Disease Name
Familial Cold Autoinflammatory Syndrome 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Endocrine diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Familial Cold Autoinflammatory Syndrome 3
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Endocrine diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Familial Cold Autoinflammatory Syndrome 4
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Endocrine diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Familial Mediterranean Fever
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Name
Familial Mediterranean Fever, Autosomal Dominant
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Name
Gracile Syndrome
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases;Nephrological diseases
Disease Name
Hyper-Igd Syndrome
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Skin diseases
Disease Name
Mevalonic Aciduria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Skin diseases
Disease Name
Muckle-Wells Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Ear diseases;Nephrological diseases;Skin diseases
Disease Definition
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural heariFamilial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by eGRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvementMuckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticarMultiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable NCI2016_NICHD_1602D:A family of autoinflammatory diseases caused by gain of function mutations in NLRP3, which encodes cryopyrin, resulting in inflammasome activation and enhanced IL-1 beta and IL-18 production. This results in clinical signs and symptoms of inflammation in the form of rash, fever, joint, neurologic and eye symptoms, with increased acute phase reactants.|NCI2016_02D:A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather.|MSH2017_2016_08_12:A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.NCI2016_NICHD_1602D: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.|NCI2016_02D: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.NCI2016_NICHD_1602D:An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK.|NCI2016_02D:A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.|MSH2017_2016_08_12:Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglut
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Immune System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Immune System Diseases
Umls Semantic Type Name
Disease or SyndromeInjury or Poisoning