FPLD1
MCID: LPD040
MIFTS: 44

Lipodystrophy, Familial Partial, Type 1 (FPLD1)

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

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 1

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 1:

Name: Lipodystrophy, Familial Partial, Type 1 57
Familial Partial Lipodystrophy Type 1 12 53 59 15
Fpld1 57 12 53 59
Familial Partial Lipodystrophy, Köbberling Type 53 59
Lipodystrophy, Familial Partial, Kobberling Type 57
Familial Partial Lipodystrophy Kobberling Type 12
Familial Partial Lipodystrophy Type Köbberling 53
Familial Partial Lipodystrophy, Type 1 73
Familial Partial Lipodystrophy 1 29

Characteristics:

Orphanet epidemiological data:

59
familial partial lipodystrophy, köbberling type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
only women have been reported
inheritance may be x-linked dominant


HPO:

32
lipodystrophy, familial partial, type 1:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Lipodystrophy, Familial Partial, Type 1, also known as familial partial lipodystrophy type 1, is related to familial partial lipodystrophy and lipodystrophy, partial, acquired. An important gene associated with Lipodystrophy, Familial Partial, Type 1 is LMNA (Lamin A/C), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Affiliated tissues include skin, ovary and liver, and related phenotypes are diabetes mellitus and hypertension

Disease Ontology : 12 A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.

OMIM : 57 Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986). For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. (608600)

Related Diseases for Lipodystrophy, Familial Partial, Type 1

Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 1 Lipodystrophy, Partial, Acquired
Lipodystrophy, Familial Partial, Type 4 Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Familial Partial, Type 6 Familial Partial Lipodystrophy Due to Akt2 Mutations

Diseases related to Lipodystrophy, Familial Partial, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 familial partial lipodystrophy 29.4 INS LEP LMNA PPARG
2 lipodystrophy, partial, acquired 11.1
3 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1 INS LMNA
4 congenital generalized lipodystrophy 10.0 LEP LMNA
5 autosomal genetic disease 10.0 INS LMNA
6 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 INS LEP
7 nonalcoholic steatohepatitis 10.0 INS LEP
8 degos 'en cocarde' erythrokeratoderma 10.0
9 fatty liver disease, nonalcoholic 1 10.0 INS LEP
10 fetal macrosomia 10.0 INS LEP
11 lipodystrophy, congenital generalized, type 2 10.0 LMNA PPARG
12 apnea, obstructive sleep 10.0 INS LEP
13 endocrine pancreas disease 10.0 INS LEP
14 lipodystrophy, familial partial, type 3 10.0 LMNA PPARG
15 pancreas disease 10.0 INS LEP
16 alstrom syndrome 10.0 INS LEP
17 sleep disorder 10.0 INS LEP
18 anovulation 10.0 INS LEP
19 diabetic neuropathy 10.0 INS LEP
20 inherited metabolic disorder 10.0 INS LEP
21 sleep apnea 9.9 INS LEP
22 uremia 9.9 INS LEP
23 maturity-onset diabetes of the young, type 10 9.9 INS PPARG
24 idiopathic edema 9.9 INS PPARG
25 hyperthyroidism 9.9 INS LEP
26 lipodystrophy, congenital generalized, type 1 9.9 INS LEP LMNA
27 lipodystrophy, familial partial, type 2 9.9 INS LEP LMNA
28 gestational diabetes 9.9 INS LEP
29 proteasome-associated autoinflammatory syndrome 1 9.8 INS PPARG
30 insulin-like growth factor i 9.8 INS LEP
31 abdominal obesity-metabolic syndrome 1 9.7 INS LEP PPARG
32 prediabetes syndrome 9.7 INS LEP PPARG
33 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 INS LEP PPARG
34 overnutrition 9.7 INS LEP PPARG
35 arteries, anomalies of 9.7 INS LEP PPARG
36 lipid metabolism disorder 9.7 INS LEP PPARG
37 glucose metabolism disease 9.7 INS LEP PPARG
38 morbid obesity 9.7 INS LEP PPARG
39 acquired metabolic disease 9.7 INS LEP PPARG
40 glucose intolerance 9.7 INS LEP PPARG
41 nonalcoholic fatty liver disease 9.7 INS LEP PPARG
42 hyperglycemia 9.7 INS LEP PPARG
43 maturity-onset diabetes of the young, type 1 9.7 INS LEP PPARG
44 atherosclerosis susceptibility 9.7 INS PPARG
45 osteoporosis 9.6 INS LEP PPARG
46 complete generalized lipodystrophy 9.6 INS LEP LMNA PPARG
47 acquired generalized lipodystrophy 9.6 INS LEP LMNA PPARG
48 acanthosis nigricans 9.6 INS LEP LMNA PPARG
49 body mass index quantitative trait locus 11 9.6 INS LEP LMNA PPARG
50 diabetes mellitus, noninsulin-dependent 9.6 INS LEP LMNA PPARG

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, Type 1:



Diseases related to Lipodystrophy, Familial Partial, Type 1

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension
prominent superficial veins
coronary artery disease

Endocrine Features:
insulin-resistant diabetes mellitus

Laboratory Abnormalities:
hyperglycemia
increased serum triglycerides
increased serum lipoproteins
increased serum total cholesterol

Head And Neck Face:
normal or increased facial adipose tissue

Abdomen Pancreas:
pancreatitis, acute

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
prominent superficial veins
xanthomata
acanthosis nigricans in patients with diabetes

Muscle Soft Tissue:
loss of subcutaneous adipose tissue in limbs
increased subcutaneous truncal adipose tissue
loss of gluteal adipose tissue
normal or increased facial and neck adipose tissue

Head And Neck Neck:
normal or increased adipose tissue around the neck

Metabolic Features:
increased metabolic rate


Clinical features from OMIM:

608600

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
2 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
3 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
4 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
5 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
6 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
7 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
8 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
9 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
10 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
11 xanthomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0000991
12 hypertriglyceridemia 32 HP:0002155
13 lipodystrophy 32 HP:0009125
14 abnormality of the musculature 32 HP:0003011
15 insulin-resistant diabetes mellitus 32 HP:0000831
16 prominent superficial veins 32 HP:0001015
17 hyperglycemia 32 HP:0003074
18 coronary artery disease 59 Occasional (29-5%)
19 loss of subcutaneous adipose tissue in limbs 32 HP:0003635
20 increased adipose tissue around the neck 32 HP:0000468
21 increased subcutaneous truncal adipose tissue 32 HP:0009003
22 increased facial adipose tissue 32 HP:0000287
23 loss of gluteal subcutaneous adipose tissue 32 HP:0009017
24 acute pancreatitis 32 HP:0001735
25 coronary artery atherosclerosis 32 occasional (7.5%) HP:0001677

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.46 INS LEP LMNA PPARG
2 liver/biliary system MP:0005370 9.26 INS LEP LMNA PPARG
3 renal/urinary system MP:0005367 8.92 INS LEP LMNA PPARG

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 1

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

Genetic Tests for Lipodystrophy, Familial Partial, Type 1

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

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 1 29

Anatomical Context for Lipodystrophy, Familial Partial, Type 1

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

41
Skin, Ovary, Liver, Pancreas

Publications for Lipodystrophy, Familial Partial, Type 1

Articles related to Lipodystrophy, Familial Partial, Type 1:

# Title Authors Year
1
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. ( 28973478 )
2017

Variations for Lipodystrophy, Familial Partial, Type 1

Expression for Lipodystrophy, Familial Partial, Type 1

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

Pathways for Lipodystrophy, Familial Partial, Type 1

Pathways related to Lipodystrophy, Familial Partial, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.85 INS LEP PPARG
2 11.23 INS PPARG
3 11.04 INS LEP LMNA PPARG
4 11.02 INS LEP
5 10.55 LEP PPARG
6 10.3 LEP PPARG

GO Terms for Lipodystrophy, Familial Partial, Type 1

Biological processes related to Lipodystrophy, Familial Partial, Type 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.49 LEP PPARG
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.48 INS LEP
3 cellular response to retinoic acid GO:0071300 9.46 LEP PPARG
4 regulation of blood pressure GO:0008217 9.43 LEP PPARG
5 glucose metabolic process GO:0006006 9.4 INS LEP
6 placenta development GO:0001890 9.37 LEP PPARG
7 glucose homeostasis GO:0042593 9.33 INS LEP PPARG
8 positive regulation of insulin receptor signaling pathway GO:0046628 9.32 INS LEP
9 regulation of fat cell differentiation GO:0045598 9.26 LEP PPARG
10 negative regulation of acute inflammatory response GO:0002674 8.96 INS PPARG
11 regulation of protein localization to nucleus GO:1900180 8.62 LEP LMNA

Sources for Lipodystrophy, Familial Partial, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....