DiseaseID 4715
Alport综合征
disease
MSH2017_2016_08_12:A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS)
Relationship Network
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Disease: 1Formula: 24Herb: 12Symptom: 11Target: 23Links: 71
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4715
- Core Entity Id
- 61105
- Source Entity Count
- 1
- Preferred Name
- Alport Syndrome
- Name Cn
- Alport综合征
- Name Pinyin
- Alport Zong He Zheng
- Name En
- Alport Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- disease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital DiseasesPathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Do Class Name
- genetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- MSH2017_2016_08_12:A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Alport Syndrome
Role
preferred
Name
Alport Syndrome, Autosomal Dominant
Role
preferred
Name
Alport Syndrome, Autosomal Recessive
Role
preferred
Name
Alport Syndrome, Dominant Type
Role
preferred
Name
Alport Syndrome, Recessive Type
Role
preferred
Name
Alport Syndrome, X-Linked
Role
preferred
Name
Hematuria, Benign Familial
Role
preferred
Name
Hereditary Nephritis
Role
preferred
Name
Thin Basement Membrane Disease
Role
preferred
Name
ALPORT SYNDROME 1, X-LINKED
Role
preferred
Name
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
Role
preferred
Name
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
Role
preferred
Name
Familial Hematuria
Role
preferred
Name
Hemorrhagic Hereditary Nephritis
Role
preferred
Name
ATS
Role
alias
Name
Autosomal Dominant Alport Syndrome
Role
alias
Name
Autosomal Recessive Alport Syndrome
Role
alias
Name
BFH
Role
alias
Name
Benign Familial Hematuria
Role
alias
Name
NEPHROPATHY AND DEAFNESS, X-LINKED
Role
alias
Name
Nephritis, Hemorrhagic Hereditary
Role
alias
Name
Nephritis, Hereditary
Role
alias
Name
THIN MEMBRANE NEPHROPATHY
Role
alias
Name
THIN-BASEMENT-MEMBRANE NEPHROPATHY
Role
alias
Name
TMN
Role
alias
Name
X-Linked Alport Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002088HBDIS005380HBDIS008884HBDIS013422HBDIS014604HBDIS014605HBDIS014606HBDIS014607HBDIS020261HBDIS020262HBDIS020377HBDIS028001HBDIS028003HBDIS028010
Me Sh
D009394
Omim
104200141200203780301050
Umls
C0027706C0241908C0403440C1567741C1567742C1567743C1567744C2931253C2931254
Icd10
Q87.81
Sym Map
SMDE01534SMDE02524SMDE03346SMDE03749SMDE05734SMDE05735SMDE05736SMDE09426SMDE13849
Do Class
DOID:630DOID:7
Dis Ge Net
C0027706C0241908C0403440C1305904C1567741C1567742C1567743C1567744C2931253C2931254C2931861C4746547C4746745C4746986
Umls Sty
T047
Me Sh Class
C12C13C16C17C23
Etcm Disease
Alport SyndromeAlport Syndrome 1, X-LinkedAlport Syndrome 2, Autosomal RecessiveAlport Syndrome 3, Autosomal DominantHematuria, Benign Familial
Tcmbank Disease
10380106714107147511640416643193992110528927302123221553560537350
Itcmdb Generated
ITX-DISEASE-15B5931C53AAITX-DISEASE-40E86EB1C85DITX-DISEASE-7B4422FAFDF7ITX-DISEASE-9E085D0D9364ITX-DISEASE-B54A50973E71ITX-DISEASE-B6AF94A37A9DITX-DISEASE-BF9E46B12B9EITX-DISEASE-DED77C63C073ITX-DISEASE-E08D8C859CE1
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Alport Syndrome 1, X-Linked Details pageDisease Alport Syndrome 2, Autosomal Recessive Details pageDisease Alport Syndrome 3, Autosomal Dominant Details pageDisease Alport Syndrome Details pageDisease Hematuria, Benign Familial Details page
Do Class Name
genetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic diseasegenetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Alport Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Nephrological diseases
Disease Name
Alport Syndrome 1, X-Linked
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Nephrological diseases
Disease Name
Alport Syndrome 2, Autosomal Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Nephrological diseases
Disease Name
Alport Syndrome 3, Autosomal Dominant
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Nephrological diseases
Disease Name
Hematuria, Benign Familial
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Nephrological diseases
Disease Definition
MSH2017_2016_08_12:A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.NCI2016_NICHD_1602D:A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities.|NCI2016_02D:A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.|JABL99:A genetically heterogenous disorder characterized by kidney abnormalities with hematuria and proteinuria, sensorineural hearing loss, and eye abnormalities. Two main genetically distinct forms are recognized: An X-linked dominant form (MIM 301050) with additional features including mental retardation, dysmorphic facies with midfacial hypoplasia, elliptocytosis and smooth muscle tumors; and an autosomal recessive form (OMIM 203780). Variants of Alport syndrome without mental retardation include: Alport syndrome with leukocyte inclusions and macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Fechtner syndrome (named after a patient) Sebastian platelet syndrome (named after a patient) macrothrombocytopathy-deafness-nephritis-leukocyte inclusions syndrome (OMIM 153640) Alport syndrome with macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Epstein syndrome hereditary macrothrombocytopathia-nephritis-deafness syndrome macrothrombocytopathy-nephritis-deafness syndrome thrombocytopenia-macrothrombocytopathia-nephritis-defames syndrome (OMIM 153650) hereditary nephropathy-deafness syndrome (transmitted as an autosomal dominant trait) Synonym: hereditary nephropathy-sensorineural hearing loss syndrome (OMIM 104200) Alport syndrome with abnormal collagen of basement membrane (transmitted as an X-linked trait) (OMIM 303630)|CSP2006:hereditary disorder characterized by progressive sensorineural hearing loss, progressive pyelonephritis or glomerulonephritis, and, occasionally, ocular defects; transmitted as an autosomal dominant or X-linked trait.
Me Sh Disease Class
Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital DiseasesPathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome