MCID: FML301
MIFTS: 27

Familial Partial Lipodystrophy, Köbberling Type malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases

Aliases & Classifications for Familial Partial Lipodystrophy, Köbberling Type

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Aliases & Descriptions for Familial Partial Lipodystrophy, Köbberling Type:

Name: Familial Partial Lipodystrophy, Köbberling Type 45 51
Familial Partial Lipodystrophy Type 1 45 51 24
Fpld1 45 51
 
Familial Partial Lipodystrophy, Kobberling Type 22
Familial Partial Lipodystrophy, Type 1 65
Fpl, Kobberling Type 22

Characteristics:

Orphanet epidemiological data:

51
familial partial lipodystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

Orphanet51 79084
ICD10 via Orphanet28 E88.1

Summaries for Familial Partial Lipodystrophy, Köbberling Type

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MalaCards based summary: Familial Partial Lipodystrophy, Köbberling Type, also known as familial partial lipodystrophy type 1, is related to lipodystrophy, familial partial, 2 and lipodystrophy, partial, acquired, and has symptoms including hypertension, hyperinsulinemia and insulin resistance. An important gene associated with Familial Partial Lipodystrophy, Köbberling Type is LMNA (Lamin A/C). Affiliated tissues include liver, ovary and skin.

Related Diseases for Familial Partial Lipodystrophy, Köbberling Type

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Diseases related to Familial Partial Lipodystrophy, Köbberling Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, 210.5
2lipodystrophy, partial, acquired10.3

Symptoms for Familial Partial Lipodystrophy, Köbberling Type

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Symptoms:

 51 (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, Köbberling Type:

(show all 28)
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 increased facial adipose tissue HP:0000287
14 increased adipose tissue around the neck HP:0000468
15 hypertension HP:0000822
16 insulin-resistant diabetes mellitus HP:0000831
17 acanthosis nigricans HP:0000956
18 xanthomatosis HP:0000991
19 prominent superficial veins HP:0001015
20 coronary artery disease HP:0001677
21 acute pancreatitis HP:0001735
22 hypertriglyceridemia HP:0002155
23 hepatomegaly HP:0002240
24 abnormality of the musculature HP:0003011
25 hyperglycemia HP:0003074
26 loss of subcutaneous adipose tissue in limbs HP:0003635
27 increased subcutaneous truncal adipose tissue HP:0009003
28 loss of gluteal subcutaneous adipose tissue HP:0009017

Drugs & Therapeutics for Familial Partial Lipodystrophy, Köbberling Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Familial Partial Lipodystrophy, Köbberling Type

Genetic Tests for Familial Partial Lipodystrophy, Köbberling Type

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Genetic tests related to Familial Partial Lipodystrophy, Köbberling Type:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy, Kobberling Type22

Anatomical Context for Familial Partial Lipodystrophy, Köbberling Type

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

33
Liver, Ovary, Skin

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

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Publications for Familial Partial Lipodystrophy, Köbberling Type

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Variations for Familial Partial Lipodystrophy, Köbberling Type

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Expression for genes affiliated with Familial Partial Lipodystrophy, Köbberling Type

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

Pathways for genes affiliated with Familial Partial Lipodystrophy, Köbberling Type

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

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Sources for Familial Partial Lipodystrophy, Köbberling Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet