FPLD1
MCID: LPD040
MIFTS: 25

Lipodystrophy, Familial Partial, Type 1 (FPLD1) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine 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 52
Familial Partial Lipodystrophy Type 1 48 54 27
Familial Partial Lipodystrophy, Köbberling Type 48 54
Fpld1 48 54
 
Familial Partial Lipodystrophy Type Köbberling 48
Familial Partial Lipodystrophy, Kobberling Type 24
Familial Partial Lipodystrophy, Type 1 68
Fpl, Kobberling Type 24

Characteristics:

Orphanet epidemiological data:

54
familial partial lipodystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
lipodystrophy, familial partial, type 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 608600
Orphanet54 ORPHA79084
ICD10 via Orphanet31 E88.1

Summaries for Lipodystrophy, Familial Partial, Type 1

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NIH Rare Diseases:48 Familial partial lipodystrophy type köbberling is a rare subtype of early-onset familial partial lipodystrophy (fpl), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. the symptoms are similar to those seen in familial partial lipodystrophy, dunnigan type (the most common type of fpl).  however, only arms and legs have fat loss, and there is a normal or slightly increased fat distribution on the face, neck, and trunk, with excess of belly fat (central obesity). metabolic abnormalities including insulin resistance, high blood pressure (hypertension), and high levels of fat in the blood (hypertriglyceridemia) have also been reported. this form of fpl has only been reported in women. inheritance seems to be autosomal dominant, but the exact cause is not known. treatment includes medication for the metabolic problems, diet and exercises, and in some cases, surgical procedures. last updated: 10/20/2016

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

OMIM:52 Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose... (608600) more...

Related Diseases for Lipodystrophy, Familial Partial, Type 1

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Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 1

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Symptoms by clinical synopsis from OMIM:

608600

Clinical features from OMIM:

608600

Human phenotypes related to Lipodystrophy, Familial Partial, Type 1:

 54 64 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polycystic ovaries64 54 Frequent (79-30%) HP:0000147
2 diabetes mellitus64 54 Very frequent (99-80%) HP:0000819
3 hypertension64 54 Very frequent (99-80%) HP:0000822
4 hyperinsulinemia64 54 Very frequent (99-80%) HP:0000842
5 insulin resistance64 54 Very frequent (99-80%) HP:0000855
6 acanthosis nigricans64 54 Occasional (29-5%) HP:0000956
7 xanthomatosis64 54 Frequent (79-30%) HP:0000991
8 hepatic steatosis64 54 Frequent (79-30%) HP:0001397
9 coronary artery disease64 54 Occasional (29-5%) HP:0001677
10 pancreatitis64 54 Occasional (29-5%) HP:0001733
11 hepatomegaly64 54 Frequent (79-30%) HP:0002240
12 lipoatrophy64 54 Very frequent (99-80%) HP:0100578
13 increased facial adipose tissue64 HP:0000287
14 increased adipose tissue around the neck64 HP:0000468
15 insulin-resistant diabetes mellitus64 HP:0000831
16 prominent superficial veins64 HP:0001015
17 acute pancreatitis64 HP:0001735
18 hypertriglyceridemia64 HP:0002155
19 abnormality of the musculature64 HP:0003011
20 hyperglycemia64 HP:0003074
21 loss of subcutaneous adipose tissue in limbs64 HP:0003635
22 increased subcutaneous truncal adipose tissue64 HP:0009003
23 loss of gluteal subcutaneous adipose tissue64 HP:0009017
24 lipodystrophy64 HP:0009125

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 127
2 Familial Partial Lipodystrophy, Kobberling Type24

Anatomical Context for Lipodystrophy, Familial Partial, Type 1

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

36
Ovary, Skin

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet