ITCMDBv1
DiseaseID 893

Wolfram综合征

disease

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

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Disease: 1Experiment: 3Symptom: 12Target: 12Links: 27
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Record Fields

Scalar fields from the final disease record.

Disease Id
893
Core Entity Id
1006
Source Entity Count
1
Preferred Name
Wolfram Syndrome
Name Cn
Wolfram综合征
Name Pinyin
Wolfram Zong He Zheng
Name En
Wolfram Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Endocrine System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesNervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
Do Class
syndrome; genetic disease
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Hpo Class Name
Do Class Name
genetic disease; syndrome
Disease Definition
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Wolfram Syndrome
Role
preferred
Name
Wolfram Syndrome 1
Role
preferred
Name
Wolfram Syndrome 2
Role
preferred
Name
Maternally-Inherited Diabetes And Deafness
Role
preferred
Name
Other Specified Diabetes Mellitus With Unspecified Complications
Role
preferred
Name
Wolfram-Like Syndrome
Role
preferred
Name
DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS
Role
alias
Name
DIDMOAD
Role
alias
Name
DIDMOAD Syndrome
Role
alias
Name
Diabetes Insipidus-diabetes Mellitus-optic Atrophy-deafness Syndrome
Role
alias
Name
WFS
Role
alias
Name
WFS1
Role
alias
Name
WFS2
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS003154HBDIS017498HBDIS027288HBDIS028472HBDIS030006
Me Sh
D014929
Omim
222300598500604928
Umls
C0043207C0342289C1858028C3280358
Icd10
E13.8
Sym Map
SMDE00944SMDE03408SMDE04037SMDE04500SMDE04672
Do Class
DOID:225DOID:630
Dis Ge Net
C0043207C0348932C1858028C4518338C4551693
Orphanet
2253463411590
Umls Sty
T047
Me Sh Class
C09C10C11C12C13C16C18C19C23
Tcmbank Disease
18952458831333

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
01
Do Class Name
genetic disease; syndrome
Disease Type
disease
Link Disease Id
4500.0
Do Disease Class
syndrome; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.NCI2016_02D:A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.|MSH2017_2016_08_12:A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.|JABL99:A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atroWolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally
Me Sh Disease Class
Endocrine System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesNervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Disease or Syndrome