FPLD1
MCID: LPD040
MIFTS: 35

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 56
Familial Partial Lipodystrophy Type 1 12 52 58 15
Fpld1 56 12 52 58
Lipodystrophy, Familial Partial, Kobberling Type 56
Familial Partial Lipodystrophy, Köbberling Type 52
Familial Partial Lipodystrophy, Kobberling Type 58
Familial Partial Lipodystrophy Kobberling Type 12
Familial Partial Lipodystrophy Type Köbberling 52
Familial Partial Lipodystrophy, Type 1 71
Familial Partial Lipodystrophy 1 29

Characteristics:

Orphanet epidemiological data:

58
familial partial lipodystrophy, kobberling type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
lipodystrophy, familial partial, type 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0070207
OMIM 56 608600
MeSH 43 D052496
SNOMED-CT 67 725035001
ICD10 via Orphanet 33 E88.1
UMLS via Orphanet 72 C1720859
Orphanet 58 ORPHA79084
MedGen 41 C1720859
UMLS 71 C1720859

Summaries for Lipodystrophy, Familial Partial, Type 1

NIH Rare Diseases : 52 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 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and familial partial lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 1 is LMNA (Lamin A/C), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include skin, ovary and bone, and related phenotypes are lipoatrophy 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 : 56 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 29)
# Related Disease Score Top Affiliating Genes
1 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 LMNA BSCL2 AGPAT2
2 familial partial lipodystrophy 29.6 LMNA CIDEC BSCL2 AGPAT2
3 lipodystrophy, partial, acquired 11.3
4 lipodystrophy, familial partial, type 4 10.1 LMNA CIDEC
5 rare genetic diabetes mellitus 10.1 LMNA BSCL2
6 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.0 LMNA BSCL2
7 acanthosis nigricans 10.0
8 body mass index quantitative trait locus 1 10.0
9 conn's syndrome 10.0
10 donohue syndrome 10.0 BSCL2 AGPAT2
11 spastic paraplegia 17, autosomal dominant 10.0 BSCL2 AGPAT2
12 monogenic diabetes 9.9 LMNA BSCL2
13 isolated elevated serum creatine phosphokinase levels 9.9 LMNA AGPAT2
14 umbilical hernia 9.9 BSCL2 AGPAT2
15 lipodystrophy, congenital generalized, type 1 9.8 LMNA BSCL2 AGPAT2
16 autosomal dominant distal hereditary motor neuronopathy 9.8 LMNA BSCL2 AGPAT2
17 adiposis dolorosa 9.8 CIDEC BSCL2 AGPAT2
18 neuronopathy, distal hereditary motor, type va 9.6 BSCL2 AGPAT2
19 lipodystrophy, familial partial, type 3 9.6 LMNA CIDEC BSCL2 AGPAT2
20 lipodystrophy, congenital generalized, type 4 9.5 CAVIN1 BSCL2 AGPAT2
21 lipodystrophy, congenital generalized, type 3 9.5 CAVIN1 BSCL2 AGPAT2
22 berardinelli-seip congenital lipodystrophy 9.5 CAVIN1 BSCL2 AGPAT2
23 lipodystrophy, congenital generalized, type 2 9.3 LMNA CAVIN1 BSCL2 AGPAT2
24 pigmentation disease 9.3 LMNA CAVIN1 BSCL2 AGPAT2
25 acquired generalized lipodystrophy 9.0 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
26 complete generalized lipodystrophy 9.0 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
27 lipodystrophy, familial partial, type 5 9.0 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
28 congenital generalized lipodystrophy 9.0 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
29 lipodystrophy, familial partial, type 2 9.0 LMNA CIDEC CAVIN1 BSCL2 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 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
2 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
3 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
4 diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000819
5 insulin resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000855
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
8 polycystic ovaries 58 31 frequent (33%) Frequent (79-30%) HP:0000147
9 xanthomatosis 58 31 frequent (33%) Frequent (79-30%) HP:0000991
10 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
11 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
12 coronary artery atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001677
13 hypertriglyceridemia 31 HP:0002155
14 lipodystrophy 31 HP:0009125
15 abnormality of the musculature 31 HP:0003011
16 hyperglycemia 31 HP:0003074
17 loss of subcutaneous adipose tissue in limbs 31 HP:0003635
18 insulin-resistant diabetes mellitus 31 HP:0000831
19 prominent superficial veins 31 HP:0001015
20 loss of gluteal subcutaneous adipose tissue 31 HP:0009017
21 increased adipose tissue around the neck 31 HP:0000468
22 acute pancreatitis 31 HP:0001735
23 increased subcutaneous truncal adipose tissue 31 HP:0009003
24 increased facial adipose tissue 31 HP:0000287

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly

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

Endocrine Features:
insulin-resistant diabetes mellitus

Head And Neck Face:
normal or increased facial adipose tissue

Abdomen Pancreas:
pancreatitis, acute

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 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AGPAT2 BSCL2 CAVIN1 CCDC92 CIDEC L3MBTL3
2 integument MP:0010771 9.55 AGPAT2 BSCL2 CIDEC L3MBTL3 LMNA
3 limbs/digits/tail MP:0005371 9.26 AGPAT2 BSCL2 L3MBTL3 LMNA
4 mortality/aging MP:0010768 9.23 AGPAT2 ARL15 BSCL2 CAVIN1 CCDC92 DNAH10

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:

40
Skin, Ovary, 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. 61 56
12766116 2003
2
An unusual type of familial lipodystrophy. 56
8530581 1995
3
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. 56
3712389 1986
4
Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. 56
170190 1975
5
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome. 52
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. 61
29607946 2018
7
Bone mineral density in familial partial lipodystrophy. 61
29078011 2018
8
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. 61
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 10.92 LMNA BSCL2 AGPAT2

GO Terms for Lipodystrophy, Familial Partial, Type 1

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

# Name GO ID Score Top Affiliating Genes
1 lipid droplet GO:0005811 8.62 CIDEC BSCL2

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

# Name GO ID Score Top Affiliating Genes
1 lipid droplet organization GO:0034389 8.62 CIDEC BSCL2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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