FPLD1
MCID: FML145
MIFTS: 23

Familial Partial Lipodystrophy, Kobberling Type (FPLD1) malady

Genetic diseases, Skin diseases, Endocrine diseases, Rare diseases categories

Summaries for Familial Partial Lipodystrophy, Kobberling Type

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48OMIM, 34MalaCards
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MalaCards: Familial Partial Lipodystrophy, Kobberling Type, also known as familial partial lipodystrophy, köbberling type, is related to lipodystrophy, familial partial, type 2 and barraquer-simons syndrome, and has symptoms including angor pectoris/myocardial infarction, pancreatitis and abnormal/polycystic ovaries. An important gene associated with Familial Partial Lipodystrophy, Kobberling Type is LMNA (lamin A/C). Affiliated tissues include liver, ovary and skin.

Description from OMIM:48 608600

Aliases & Classifications for Familial Partial Lipodystrophy, Kobberling Type

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21GeneTests, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

50
familial partial lipodystrophy, köbberling type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

familial partial lipodystrophy, kobberling type 21
familial partial lipodystrophy, köbberling type 50 48
familial partial lipodystrophy, type 1 63
familial partial lipodystrophy type 1 50
fpld1 50


External Ids:

OMIM48 608600
ICD10 via Orphanet27 E88.1

Related Diseases for Familial Partial Lipodystrophy, Kobberling Type

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18GeneCards, 19GeneDecks
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Diseases related to Familial Partial Lipodystrophy, Kobberling Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, type 210.2
2barraquer-simons syndrome10.1

Symptoms for Familial Partial Lipodystrophy, Kobberling Type

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

608600

Clinical features from OMIM:

608600

Symptoms:

50 (show all 15)
  • angor pectoris/myocardial infarction
  • pancreatitis
  • abnormal/polycystic ovaries
  • liver/hepatic steatosis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • xanthomas/lipomas
  • acanthosis nigricans
  • abnormal fat distribution/lipodystrophy
  • autosomal dominant inheritance
  • hyperinsulinism/hyperinsulinemia
  • insulin resistance
  • insulin-dependent/type 1 diabetes
  • diabetes mellitus
  • chronic arterial hypertension
  • lipoatrophy

Drugs & Therapeutics for Familial Partial Lipodystrophy, Kobberling Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Partial Lipodystrophy, Kobberling Type

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Genetic Tests for Familial Partial Lipodystrophy, Kobberling Type

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21GeneTests
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Genetic tests related to Familial Partial Lipodystrophy, Kobberling Type:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy, Kobberling Type21

Anatomical Context for Familial Partial Lipodystrophy, Kobberling Type

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34MalaCards
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MalaCards organs/tissues related to Familial Partial Lipodystrophy, Kobberling Type:

34
Liver, Ovary, Skin

Animal Models for Familial Partial Lipodystrophy, Kobberling Type or affiliated genes

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Publications for Familial Partial Lipodystrophy, Kobberling Type

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Variations for Familial Partial Lipodystrophy, Kobberling Type

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Expression for genes affiliated with Familial Partial Lipodystrophy, Kobberling Type

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Partial Lipodystrophy, Kobberling Type

Search GEO for disease gene expression data for Familial Partial Lipodystrophy, Kobberling Type.

Pathways for genes affiliated with Familial Partial Lipodystrophy, Kobberling Type

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Compounds for genes affiliated with Familial Partial Lipodystrophy, Kobberling Type

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GO Terms for genes affiliated with Familial Partial Lipodystrophy, Kobberling Type

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Products for genes affiliated with Familial Partial Lipodystrophy, Kobberling Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Partial Lipodystrophy, Kobberling Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet