FPLD1
MCID: FML145
MIFTS: 24

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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MalaCards based summary: 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 lipoatrophy, chronic arterial hypertension and diabetes mellitus. An important gene associated with Familial Partial Lipodystrophy, Kobberling Type is LMNA (lamin A/C). Affiliated tissues include liver, skin and ovary.

Description from OMIM:46 608600

Aliases & Classifications for Familial Partial Lipodystrophy, Kobberling Type

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Sources:
20GeneTests, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Familial Partial Lipodystrophy, Kobberling Type, Aliases & Descriptions:

Name: Familial Partial Lipodystrophy, Kobberling Type 20
Familial Partial Lipodystrophy, Köbberling Type 48 46
Familial Partial Lipodystrophy, Type 1 62
 
Familial Partial Lipodystrophy Type 1 48
Fpld1 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
familial partial lipodystrophy, köbberling type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 608600
ICD10 via Orphanet26 E88.1

Related Diseases for Familial Partial Lipodystrophy, Kobberling Type

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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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Symptoms by clinical synopsis from OMIM:

608600

Clinical features from OMIM:

608600

Symptoms:

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

HPO human phenotypes related to Familial Partial Lipodystrophy, Kobberling Type:

(show all 31)
id Description Frequency HPO Source Accession
1 hypertension hallmark (90%) HP:0000822
2 hyperinsulinemia hallmark (90%) HP:0000842
3 insulin resistance hallmark (90%) HP:0000855
4 lipoatrophy hallmark (90%) HP:0100578
5 type i diabetes mellitus hallmark (90%) HP:0100651
6 polycystic ovaries typical (50%) HP:0000147
7 acanthosis nigricans typical (50%) HP:0000956
8 multiple lipomas typical (50%) HP:0001012
9 hepatic steatosis typical (50%) HP:0001397
10 hepatomegaly typical (50%) HP:0002240
11 coronary artery disease occasional (7.5%) HP:0001677
12 pancreatitis occasional (7.5%) HP:0001733
13 autosomal dominant inheritance HP:0000006
14 increased facial adipose tissue HP:0000287
15 increased adipose tissue around the neck HP:0000468
16 hypertension HP:0000822
17 insulin-resistant diabetes mellitus HP:0000831
18 acanthosis nigricans HP:0000956
19 xanthomatosis HP:0000991
20 prominent superficial veins HP:0001015
21 coronary artery disease HP:0001677
22 acute pancreatitis HP:0001735
23 hypertriglyceridemia HP:0002155
24 hepatomegaly HP:0002240
25 abnormality of the musculature HP:0003011
26 hyperglycemia HP:0003074
27 juvenile onset HP:0003621
28 loss of subcutaneous adipose tissue in limbs HP:0003635
29 increased subcutaneous truncal adipose tissue HP:0009003
30 loss of gluteal subcutaneous adipose tissue HP:0009017
31 lipodystrophy HP:0009125

Drugs & Therapeutics for Familial Partial Lipodystrophy, Kobberling Type

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

32
Liver, Skin, Ovary

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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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

Sources for Familial Partial Lipodystrophy, Kobberling Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet