MCID: FML145
MIFTS: 22

Familial Partial Lipodystrophy, Kobberling Type malady

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

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 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, Kobberling Type is LMNA (lamin A/C). Affiliated tissues include liver, ovary and skin.

Aliases & Classifications for Familial Partial Lipodystrophy, Kobberling Type

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Sources:
20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Familial Partial Lipodystrophy, Kobberling Type, Aliases & Descriptions:

Name: Familial Partial Lipodystrophy, Kobberling Type 20
Familial Partial Lipodystrophy Type 1 47 22
Familial Partial Lipodystrophy, Köbberling Type 47
 
Familial Partial Lipodystrophy, Type 1 60
Fpld1 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
familial partial lipodystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 79084
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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, 210.2
2lipodystrophy, partial, acquired10.1

Symptoms for Familial Partial Lipodystrophy, Kobberling Type

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Symptoms:

 47 (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
2 Lipodystrophy, Familial Partial, Type 122

Anatomical Context for Familial Partial Lipodystrophy, Kobberling Type

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

31
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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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
  • Proteins
  • Kits and Assays

Sources for Familial Partial Lipodystrophy, Kobberling Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet