FPLD1
MCID: LPD040
MIFTS: 39

Lipodystrophy, Familial Partial, Type 1 (FPLD1)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 11 19 58 14
Fpld1 57 11 19 58
Familial Partial Lipodystrophy, Kobberling Type 58 28
Lipodystrophy, Familial Partial, Kobberling Type 57
Familial Partial Lipodystrophy, Köbberling Type 19
Familial Partial Lipodystrophy Kobberling Type 11
Familial Partial Lipodystrophy Type Köbberling 19
Familial Partial Lipodystrophy, Type 1 71

Characteristics:


Inheritance:

Lipodystrophy, Familial Partial, Type 1: Autosomal dominant 57
Familial Partial Lipodystrophy, Kobberling Type: Autosomal dominant 58

Prevelance:

Familial Partial Lipodystrophy, Kobberling Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Familial Partial Lipodystrophy, Kobberling Type: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood
only women have been reported
inheritance may be x-linked dominant


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0070207
OMIM® 57 608600
MeSH 43 D052496
SNOMED-CT 68 725035001
ICD10 via Orphanet 32 E88.1
UMLS via Orphanet 72 C1720859
Orphanet 58 ORPHA79084
MedGen 40 C1720859
UMLS 71 C1720859

Summaries for Lipodystrophy, Familial Partial, Type 1

GARD: 19 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.

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 Overlap between signal transduction pathways contributing to LMNA laminopathies and Adipogenesis. Affiliated tissues include skin and bone, and related phenotypes are diabetes mellitus and hypertension

Orphanet: 58 Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

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) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

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
Akt2-Related Familial Partial Lipodystrophy

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 familial partial lipodystrophy 29.8 ZMPSTE24 LMNA CIDEC AGPAT2
2 lipodystrophy, partial, acquired 11.0
3 restrictive dermopathy 1 10.1 ZMPSTE24 LMNA
4 restrictive dermopathy 10.1 ZMPSTE24 LMNA
5 mandibuloacral dysplasia with type a lipodystrophy 10.1 ZMPSTE24 LMNA
6 lethal restrictive dermopathy 10.1 ZMPSTE24 LMNA
7 acroosteolysis 10.1 ZMPSTE24 LMNA
8 acanthosis nigricans 10.1
9 abdominal obesity-metabolic syndrome 1 10.1
10 leptin deficiency or dysfunction 10.1
11 conn's syndrome 10.1
12 reynolds syndrome 10.1 ZMPSTE24 LMNA
13 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.1 ZMPSTE24 LMNA
14 emery-dreifuss muscular dystrophy 10.1 ZMPSTE24 LMNA
15 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 ZMPSTE24 LMNA
16 charcot-marie-tooth disease, axonal, type 2b1 10.0 ZMPSTE24 LMNA
17 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.0 ZMPSTE24 LMNA
18 lipodystrophy, familial partial, type 6 10.0 ZMPSTE24 CIDEC
19 emery-dreifuss muscular dystrophy 1, x-linked 10.0 ZMPSTE24 LMNA
20 greenberg dysplasia 10.0 ZMPSTE24 LMNA
21 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0 LMNA AGPAT2
22 skin atrophy 10.0 ZMPSTE24 LMNA
23 lipodystrophy, familial partial, type 5 10.0 CIDEC AGPAT2
24 adiposis dolorosa 10.0 CIDEC AGPAT2
25 cardiomyopathy, dilated, 1h 10.0 ZMPSTE24 LMNA
26 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 ZMPSTE24 LMNA
27 cardiomyopathy, dilated, 1a 9.9 ZMPSTE24 LMNA
28 lipodystrophy, congenital generalized, type 4 9.9 CAVIN1 AGPAT2
29 lipodystrophy, congenital generalized, type 3 9.9 CAVIN1 AGPAT2
30 lipodystrophy, congenital generalized, type 1 9.9 CAVIN1 AGPAT2
31 hair disease 9.9 ZMPSTE24 LMNA
32 calcinosis 9.8 ZMPSTE24 LMNA
33 pigmentation disease 9.8 LMNA CAVIN1 AGPAT2
34 lipodystrophy, familial partial, type 4 9.7 CIDEC CAVIN1 AGPAT2
35 lipodystrophy, congenital generalized, type 2 9.6 LMNA CIDEC CAVIN1 AGPAT2
36 acquired generalized lipodystrophy 9.4 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
37 complete generalized lipodystrophy 9.4 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
38 lipodystrophy, familial partial, type 3 9.4 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
39 lipodystrophy, familial partial, type 2 9.4 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
40 congenital generalized lipodystrophy 9.3 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2

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:

58 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000819
2 hypertension 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000822
3 lipoatrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100578
4 hyperinsulinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000842
5 insulin resistance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000855
6 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
7 hepatic steatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001397
8 polycystic ovaries 58 30 Frequent (33%) Frequent (79-30%)
HP:0000147
9 xanthomatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000991
10 acanthosis nigricans 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000956
11 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001733
12 coronary artery atherosclerosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001677
13 hypertriglyceridemia 30 HP:0002155
14 lipodystrophy 30 HP:0009125
15 abnormality of the musculature 30 HP:0003011
16 loss of subcutaneous adipose tissue in limbs 30 HP:0003635
17 acute pancreatitis 30 HP:0001735
18 insulin-resistant diabetes mellitus 30 HP:0000831
19 prominent superficial veins 30 HP:0001015
20 hyperglycemia 30 HP:0003074
21 loss of gluteal subcutaneous adipose tissue 30 HP:0009017
22 increased adipose tissue around the neck 30 HP:0000468
23 increased subcutaneous truncal adipose tissue 30 HP:0009003
24 increased facial adipose tissue 30 HP:0000287

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Vascular:
hypertension
prominent superficial veins
coronary artery disease

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

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

Head And Neck Face:
normal or increased facial adipose tissue

Abdomen Pancreas:
pancreatitis, acute

Abdomen Liver:
hepatomegaly

Endocrine Features:
insulin-resistant diabetes mellitus

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

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

Metabolic Features:
increased metabolic rate

Clinical features from OMIM®:

608600 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.65 AGPAT2 ARL15 L3MBTL3 LMNA ZMPSTE24
2 adipose tissue MP:0005375 9.55 AGPAT2 ARL15 CIDEC LMNA ZMPSTE24
3 behavior/neurological MP:0005386 9.5 AGPAT2 CAVIN1 CCDC92 CIDEC L3MBTL3 LMNA
4 mortality/aging MP:0010768 9.23 AGPAT2 ARL15 CAVIN1 CCDC92 DNAH10 L3MBTL3

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, Kobberling Type 28

Anatomical Context for Lipodystrophy, Familial Partial, Type 1

Organs/tissues related to Lipodystrophy, Familial Partial, Type 1:

MalaCards : 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. 62 57
12766116 2003
2
An unusual type of familial lipodystrophy. 57
8530581 1995
3
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. 57
3712389 1986
4
Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. 57
170190 1975
5
Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1. 62
33055470 2020
6
Clinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic. 62
29607946 2018
7
Bone mineral density in familial partial lipodystrophy. 62
29078011 2018
8
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. 62
28973478 2017
9
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. 62
27841877 2017
10
[Familial partial lipodystrophy type 1. A rare or underdiagnosed syndrome?]. 62
25637899 2015

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
11.34 ZMPSTE24 LMNA
2 11.25 ZMPSTE24 LMNA AGPAT2
3 11 ZMPSTE24 LMNA
4
Show member pathways
10.6 ZMPSTE24 LMNA
5 10.39 CAVIN1 AGPAT2
6 10.21 ZMPSTE24 LMNA CIDEC

GO Terms for Lipodystrophy, Familial Partial, Type 1

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

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope organization GO:0006998 9.26 ZMPSTE24 LMNA
2 nucleus organization GO:0006997 9.16 ZMPSTE24 LMNA
3 regulation of defense response to virus GO:0050688 8.92 ZMPSTE24 CCDC92

Sources for Lipodystrophy, Familial Partial, Type 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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