FPLD1
MCID: FML145
MIFTS: 23

Familial Partial Lipodystrophy, Kobberling Type (FPLD1) malady

Genetic diseases, Skin diseases, Endocrine diseases, Rare diseases categories
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Summaries for Familial Partial Lipodystrophy, Kobberling Type

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47OMIM, 33MalaCards
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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:47 608600

Aliases & Classifications for Familial Partial Lipodystrophy, Kobberling Type

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20GeneTests, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 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):

49
familial partial lipodystrophy, köbberling type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

familial partial lipodystrophy, kobberling type 20
familial partial lipodystrophy, köbberling type 49 47
familial partial lipodystrophy, type 1 62
familial partial lipodystrophy type 1 49
fpld1 49


External Ids:

OMIM47 608600
ICD10 via Orphanet26 E88.1

Related Diseases for Familial Partial Lipodystrophy, Kobberling Type

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

608600

Clinical features from OMIM:

608600

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Familial Partial Lipodystrophy, Kobberling Type

Search NIH Clinical Center for Familial Partial Lipodystrophy, Kobberling Type

Genetic Tests for Familial Partial Lipodystrophy, Kobberling Type

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20GeneTests
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Genetic tests related to Familial Partial Lipodystrophy, Kobberling Type:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy, Kobberling Type20

Anatomical Context for Familial Partial Lipodystrophy, Kobberling Type

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33MalaCards
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MalaCards organs/tissues related to Familial Partial Lipodystrophy, Kobberling Type:

33
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet