FPLD1
MCID: LPD040
MIFTS: 40

Lipodystrophy, Familial Partial, Type 1 (FPLD1)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal 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
Lipodystrophy, Familial Partial, Kobberling Type 57
Familial Partial Lipodystrophy, Köbberling Type 53
Familial Partial Lipodystrophy, Kobberling Type 59
Familial Partial Lipodystrophy Kobberling Type 12
Familial Partial Lipodystrophy Type Köbberling 53
Familial Partial Lipodystrophy, Type 1 72
Familial Partial Lipodystrophy 1 29

Characteristics:

Orphanet epidemiological data:

59
familial partial lipodystrophy, kobberling 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:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070207
ICD10 via Orphanet 34 E88.1
UMLS via Orphanet 73 C1720859
Orphanet 59 ORPHA79084
MedGen 42 C1720859
UMLS 72 C1720859

Summaries for Lipodystrophy, Familial Partial, Type 1

NIH Rare Diseases : 53 Familial partial lipodystrophy type Kobberling 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 acanthosis nigricans. 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 ovary, skin and bone, 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 7 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 47)
# Related Disease Score Top Affiliating Genes
1 familial partial lipodystrophy 28.6 PPARG LMNA LEP INS
2 acanthosis nigricans 28.4 PPARG LMNA LEP INS
3 lipodystrophy, partial, acquired 11.3
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2 LMNA INS
5 congenital generalized lipodystrophy 10.1 LMNA LEP
6 autosomal genetic disease 10.0 LMNA INS
7 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 LEP INS
8 body mass index quantitative trait locus 1 10.0
9 conn's syndrome 10.0
10 fatty liver disease, nonalcoholic 1 10.0 LEP INS
11 fetal macrosomia 10.0 LEP INS
12 endocrine pancreas disease 10.0 LEP INS
13 lipodystrophy, congenital generalized, type 2 9.9 PPARG LMNA
14 pancreas disease 9.9 LEP INS
15 lipodystrophy, familial partial, type 3 9.9 PPARG LMNA
16 apnea, obstructive sleep 9.9 LEP INS
17 alstrom syndrome 9.9 LEP INS
18 sleep disorder 9.9 LEP INS
19 anovulation 9.9 LEP INS
20 diabetic neuropathy 9.9 LEP INS
21 inherited metabolic disorder 9.9 LEP INS
22 sleep apnea 9.8 LEP INS
23 uremia 9.8 LEP INS
24 maturity-onset diabetes of the young, type 10 9.8 PPARG INS
25 idiopathic edema 9.8 PPARG INS
26 hyperthyroidism 9.7 LEP INS
27 lipodystrophy, congenital generalized, type 1 9.7 LMNA LEP INS
28 lipodystrophy, familial partial, type 2 9.7 LMNA LEP INS
29 gestational diabetes 9.7 LEP INS
30 proteasome-associated autoinflammatory syndrome 1 9.6 PPARG INS
31 insulin-like growth factor i 9.6 LEP INS
32 abdominal obesity-metabolic syndrome 1 9.3 PPARG LEP INS
33 prediabetes syndrome 9.3 PPARG LEP INS
34 3-hydroxyacyl-coa dehydrogenase deficiency 9.3 PPARG LEP INS
35 overnutrition 9.3 PPARG LEP INS
36 arteries, anomalies of 9.3 PPARG LEP INS
37 glucose metabolism disease 9.3 PPARG LEP INS
38 lipid metabolism disorder 9.3 PPARG LEP INS
39 acquired metabolic disease 9.3 PPARG LEP INS
40 glucose intolerance 9.3 PPARG LEP INS
41 hyperglycemia 9.3 PPARG LEP INS
42 maturity-onset diabetes of the young, type 1 9.2 PPARG LEP INS
43 atherosclerosis susceptibility 9.2 PPARG INS
44 complete generalized lipodystrophy 8.9 PPARG LMNA LEP INS
45 acquired generalized lipodystrophy 8.9 PPARG LMNA LEP INS
46 body mass index quantitative trait locus 11 8.9 PPARG LMNA LEP INS
47 diabetes mellitus, noninsulin-dependent 8.9 PPARG LMNA LEP INS

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

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

59 32 (show all 24)
# 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 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
4 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
5 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
6 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
7 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
8 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
9 xanthomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0000991
10 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
11 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
12 coronary artery atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001677
13 hypertriglyceridemia 32 HP:0002155
14 lipodystrophy 32 HP:0009125
15 abnormality of the musculature 32 HP:0003011
16 insulin-resistant diabetes mellitus 32 HP:0000831
17 prominent superficial veins 32 HP:0001015
18 hyperglycemia 32 HP:0003074
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

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

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
Ovary, Skin, Bone

Publications for Lipodystrophy, Familial Partial, Type 1

Articles related to Lipodystrophy, Familial Partial, Type 1:

# Title Authors PMID Year
1
Köbberling type of familial partial lipodystrophy: an underrecognized syndrome. 38 8
12766116 2003
2
An unusual type of familial lipodystrophy. 8
8530581 1995
3
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. 8
3712389 1986
4
Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. 8
170190 1975
5
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome. 6
27473102 2016
6
Clinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic. 38
29607946 2018
7
Bone mineral density in familial partial lipodystrophy. 38
29078011 2018
8
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. 38
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 PPARG LEP INS
2 11.23 PPARG INS
3 11.04 PPARG LMNA LEP INS
4 11.02 LEP INS
5 10.55 PPARG LEP
6 10.3 PPARG LEP

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

Sources for Lipodystrophy, Familial Partial, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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