DiseaseID 3798
脂肪营养不良
disease
Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.
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Disease: 1Formula: 5Herb: 3Symptom: 12Target: 24Links: 44
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3798
- Core Entity Id
- 60048
- Source Entity Count
- 1
- Preferred Name
- Lipodystrophy
- Name Cn
- 脂肪营养不良
- Name Pinyin
- Zhi Fang Ying Yang Bu Liang
- Name En
- Lipodystrophy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Nutritional and Metabolic Diseases; Endocrine System DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; disease of metabolismdisease of anatomical entity; genetic diseasegenetic disease; disease of anatomical entity; disease of metabolism
- Hpo Class
- Abnormality of connective tissue
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesNutritional and Metabolic Diseases; Endocrine System DiseasesNutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
- Hpo Class Name
- Abnormality of connective tissue
- Do Class Name
- disease of metabolism; disease of anatomical entitydisease of metabolism; genetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lipodystrophy
Role
preferred
Name
Akt2-Related Familial Partial Lipodystrophy
Role
preferred
Name
Generalized Congenital Lipodystrophy With Myopathy
Role
preferred
Name
Keppen-Lubinsky Syndrome
Role
preferred
Name
Lipoatrophic Diabetes Mellitus
Role
preferred
Name
Lipodystrophy, Congenital Generalized, Type 3
Role
preferred
Name
Lipodystrophy, Congenital Generalized, Type 4
Role
preferred
Name
Berardinelli-Seip Congenital Lipodystrophy
Role
preferred
Name
Cidec-Related Familial Partial Lipodystrophy
Role
preferred
Name
Congenital Generalized Lipodystrophy Type 1
Role
preferred
Name
Congenital Generalized Lipodystrophy Type 2
Role
preferred
Name
Familial Generalized Lipodystrophy
Role
preferred
Name
Familial Partial Lipodystrophy, Dunnigan Type
Role
preferred
Name
Familial Partial Lipodystrophy, K？Bberling Type
Role
preferred
Name
Lipe-Related Familial Partial Lipodystrophy
Role
preferred
Name
Lipodystrophy, Familial Partial, Type 3
Role
preferred
Name
Lipodystrophy, Not Elsewhere Classified
Role
preferred
Name
Lipodystrophy, Partial, Acquired, Susceptibility To
Role
preferred
Name
Partial Acquired Lipodystrophy
Role
preferred
Name
Plin1-Related Familial Partial Lipodystrophy
Role
preferred
Name
AKT2-related FPLD
Role
alias
Name
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3
Role
alias
Name
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULAR DYSTROPHY
Role
alias
Name
BSCL3
Role
alias
Name
Berardinelli-Seip Syndrome
Role
alias
Name
CGL3
Role
alias
Name
CGL4
Role
alias
Name
Congenital Generalized Lipodystrophy
Role
alias
Name
Congenital Generalized Lipodystrophy Type 3
Role
alias
Name
Congenital Generalized Lipodystrophy Type 4
Role
alias
Name
Diabetes Mellitus, Lipoatrophic
Role
alias
Name
GCL4
Role
alias
Name
Generalized Congenital Lipodystrophy Type 4
Role
alias
Name
Generalized Lipodystrophy-progeroid Features-severe Intellectual Disability Syndrome
Role
alias
Name
Inability To Make And Keep Healthy Fat Tissue
Role
alias
Name
KPLBS
Role
alias
Name
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3
Role
alias
Name
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 4, WITH MUSCULAR DYSTROPHY
Role
alias
Name
Lipodystrophy, Congenital Generalized
Role
alias
Name
Lipodystrophy, Congenital Generalized, Type 1
Role
alias
Name
Lipodystrophy, Congenital Generalized, Type 2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0009059HP:0009125
Herb
HBDIS000777HBDIS001750HBDIS004561HBDIS009733HBDIS014912HBDIS014913HBDIS019415HBDIS029179HBDIS029326HBDIS029530
Me Sh
D003923D008060D052497
Omim
269700608594608709612526613327614098
Umls
C0011859C0023787C0220989C0221032C1720859C1720860C1720861C2675861C2750069C3279800
Icd10
E88.1
Med Dra
10024603
Sym Map
SMDE00698SMDE00891SMDE01058SMDE01894SMDE02011SMDE02459SMDE02931SMDE03369SMDE04202SMDE04295SMDE04344SMDE04441SMDE04994SMDE08637SMDE10459SMDE10460
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0011859C0023787C0221032C0494360C1720862C1720863C2675861C2750069C3279800C3887501
Orphanet
228429234828035643562843565143566052879083790847908579087
Umls Sty
T019T033T047
Hpo Class
HP:0003549
Me Sh Class
C16C17C18C19
Etcm Disease
Berardinelli-Seip Congenital LipodystrophyKeppen-Lubinsky SyndromeLipodystrophy, Congenital Generalized, Type 3Lipodystrophy, Congenital Generalized, Type 4Lipodystrophy, Familial Partial, Type 3
Tcmbank Disease
2656829371313173227327542906697506
Itcmdb Generated
ITX-DISEASE-07348E766F51ITX-DISEASE-350085CF3D95ITX-DISEASE-37BDE3FD5E9EITX-DISEASE-9A883CADB249ITX-DISEASE-B33EA017D2BAITX-DISEASE-E9F955DF82A5ITX-DISEASE-FA71682E81AA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Berardinelli-Seip Congenital Lipodystrophy Details pageDisease Keppen-Lubinsky Syndrome Details pageDisease Lipodystrophy, Congenital Generalized, Type 3 Details pageDisease Lipodystrophy, Congenital Generalized, Type 4 Details pageDisease Lipodystrophy, Familial Partial, Type 3 Details page
Do Class Name
disease of metabolism; disease of anatomical entitydisease of metabolism; genetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of connective tissue
Link Disease Id
2011.0
Do Disease Class
disease of anatomical entity; disease of metabolismdisease of anatomical entity; genetic diseasegenetic disease; disease of anatomical entity; disease of metabolism
Hpo Disease Class
Abnormality of connective tissue
Umls Disease Type
Congenital AbnormalityDisease or SyndromeFinding
Basic Information
Disease Name
Berardinelli-Seip Congenital Lipodystrophy
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Skin diseases
Disease Name
Keppen-Lubinsky Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Skin diseases
Disease Name
Lipodystrophy, Congenital Generalized, Type 3
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Immune diseases;Muscle diseases;Skin diseases
Disease Name
Lipodystrophy, Congenital Generalized, Type 4
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Immune diseases;Muscle diseases;Skin diseases
Disease Name
Lipodystrophy, Familial Partial, Type 3
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Endocrine diseases;Liver diseases;Muscle diseases;Neuronal diseases;Skin diseases
Disease Definition
Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extremeFamilial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs;Familial partial lipodystrophy, K？bberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the liMSH2017_2016_08_12:This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.NCI2016_02D:A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.|MSH2017_2016_08_12:A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.|HPO2016_07_04:Degenerative changes of the fat tissue. [HPO:curators]|CSP2006:collection of rare conditions resulting from defective fat metabolism and characterized by atrophy of the subcutaneous fat; includes total, congenital or acquired, partial, abdominal infantile, and localized lipodystrophy.NCI2016_02D:A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus.|MSH2017_2016_08_12:Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.|JABL99:The concurrence of generalized loss of body fat, diabetes mellitus, hepatomegaly, acanthosis nigricans, enlarged external genitalia, and increased rate of skeletal growth. This and Kobberling-Dunnigan syndrome share many common characteristics.|HPO2016_07_04:Generalized degenerative changes of the fat tissue. [HPO:curators]NCI2016_02D:A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.|MSH2017_2016_08_12:A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED).
Me Sh Disease Class
Nutritional and Metabolic Diseases; Endocrine System DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesNutritional and Metabolic Diseases; Endocrine System DiseasesNutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome