MCID: LPD040
MIFTS: 25

Lipodystrophy, Familial Partial, Type 1 malady

Categories: Genetic diseases, Skin diseases, Endocrine diseases, Rare diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 1

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Aliases & Descriptions for Lipodystrophy, Familial Partial, Type 1:

Name: Lipodystrophy, Familial Partial, Type 1 50
Familial Partial Lipodystrophy Type 1 52 25
Familial Partial Lipodystrophy, Köbberling Type 52
 
Familial Partial Lipodystrophy, Kobberling Type 23
Fpl, Kobberling Type 23
Fpld1 52

Characteristics:

Orphanet epidemiological data:

52
familial partial lipodystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
lipodystrophy, familial partial, type 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 608600
Orphanet52 ORPHA79084
ICD10 via Orphanet29 E88.1

Summaries for Lipodystrophy, Familial Partial, Type 1

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OMIM:50 Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose... (608600) more...

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

Related Diseases for Lipodystrophy, Familial Partial, Type 1

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Symptoms for Lipodystrophy, Familial Partial, Type 1

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Symptoms by clinical synopsis from OMIM:

608600

Clinical features from OMIM:

608600

Symptoms:

 52 (show all 12)
  • polycystic ovaries
  • diabetes mellitus
  • hypertension
  • hyperinsulinemia
  • insulin resistance
  • acanthosis nigricans
  • xanthomatosis
  • hepatic steatosis
  • coronary artery disease
  • pancreatitis
  • hepatomegaly
  • lipoatrophy

HPO human phenotypes related to Lipodystrophy, Familial Partial, Type 1:

(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

UMLS symptoms related to Lipodystrophy, Familial Partial, Type 1:


hepatomegaly

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lipodystrophy, Familial Partial, Type 1

Genetic Tests for Lipodystrophy, Familial Partial, Type 1

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Genetic tests related to Lipodystrophy, Familial Partial, Type 1:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 125
2 Familial Partial Lipodystrophy, Kobberling Type23

Anatomical Context for Lipodystrophy, Familial Partial, Type 1

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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 1:

34
Ovary, Skin

Animal Models for Lipodystrophy, Familial Partial, Type 1 or affiliated genes

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Publications for Lipodystrophy, Familial Partial, Type 1

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Variations for Lipodystrophy, Familial Partial, Type 1

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Expression for genes affiliated with Lipodystrophy, Familial Partial, Type 1

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Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 1.

Pathways for genes affiliated with Lipodystrophy, Familial Partial, Type 1

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GO Terms for genes affiliated with Lipodystrophy, Familial Partial, Type 1

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Sources for Lipodystrophy, Familial Partial, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet