FPLD1
MCID: LPD040
MIFTS: 37

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
OMIM Phenotypic Series 56 PS151660
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 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 is Adipogenesis. Affiliated tissues include skin, ovary 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 : 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 32)
# Related Disease Score Top Affiliating Genes
1 familial partial lipodystrophy 29.1 LMNA CIDEC CAVIN1 AGPAT2
2 lipodystrophy, partial, acquired 11.3
3 mandibuloacral dysplasia with type a lipodystrophy 10.1 ZMPSTE24 LMNA
4 acroosteolysis 10.1 ZMPSTE24 LMNA
5 laminopathy 10.1 ZMPSTE24 LMNA
6 reynolds syndrome 10.0 ZMPSTE24 LMNA
7 charcot-marie-tooth disease, axonal, type 2b1 10.0 ZMPSTE24 LMNA
8 acanthosis nigricans 10.0
9 body mass index quantitative trait locus 1 10.0
10 conn's syndrome 10.0
11 restrictive dermopathy, lethal 10.0 ZMPSTE24 LMNA
12 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.0 ZMPSTE24 LMNA
13 cardiomyopathy, dilated, 1a 9.9 ZMPSTE24 LMNA
14 skin atrophy 9.9 ZMPSTE24 LMNA
15 lipodystrophy, familial partial, type 3 9.9 LMNA CIDEC AGPAT2
16 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 ZMPSTE24 LMNA
17 calcinosis 9.8 ZMPSTE24 LMNA
18 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.8 ZMPSTE24 LMNA AGPAT2
19 adiposis dolorosa 9.7 ZMPSTE24 CIDEC AGPAT2
20 berardinelli-seip congenital lipodystrophy 9.7 CAVIN1 AGPAT2
21 lipodystrophy, congenital generalized, type 4 9.7 CAVIN1 AGPAT2
22 lipodystrophy, congenital generalized, type 3 9.7 CAVIN1 AGPAT2
23 hutchinson-gilford progeria syndrome 9.6 ZMPSTE24 LMNA
24 pigmentation disease 9.5 LMNA CAVIN1 AGPAT2
25 lipodystrophy, familial partial, type 4 9.3 LMNA CIDEC CAVIN1 AGPAT2
26 acquired generalized lipodystrophy 9.3 LMNA CIDEC CAVIN1 AGPAT2
27 lipodystrophy, congenital generalized, type 2 9.3 LMNA CIDEC CAVIN1 AGPAT2
28 lipodystrophy, congenital generalized, type 1 9.1 ZMPSTE24 LMNA CAVIN1 AGPAT2
29 lipodystrophy, familial partial, type 5 8.9 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
30 complete generalized lipodystrophy 8.9 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
31 congenital generalized lipodystrophy 8.9 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
32 lipodystrophy, familial partial, type 2 8.9 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 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000819
2 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
3 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
4 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
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 insulin-resistant diabetes mellitus 31 HP:0000831
17 prominent superficial veins 31 HP:0001015
18 hyperglycemia 31 HP:0003074
19 loss of subcutaneous adipose tissue in limbs 31 HP:0003635
20 increased adipose tissue around the neck 31 HP:0000468
21 increased subcutaneous truncal adipose tissue 31 HP:0009003
22 increased facial adipose tissue 31 HP:0000287
23 loss of gluteal subcutaneous adipose tissue 31 HP:0009017
24 acute pancreatitis 31 HP:0001735

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AGPAT2 CAVIN1 CCDC92 CIDEC L3MBTL3 LMNA
2 adipose tissue MP:0005375 9.62 AGPAT2 CIDEC LMNA ZMPSTE24
3 integument MP:0010771 9.55 AGPAT2 CIDEC L3MBTL3 LMNA ZMPSTE24
4 limbs/digits/tail MP:0005371 9.26 AGPAT2 L3MBTL3 LMNA ZMPSTE24
5 mortality/aging MP:0010768 9.23 AGPAT2 ARL15 CAVIN1 CCDC92 DNAH10 L3MBTL3

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 1