MCID: LPD040
MIFTS: 27

Lipodystrophy, Familial Partial, Type 1

Categories: Rare diseases, Skin diseases, Endocrine diseases, Genetic diseases, Fetal diseases, Metabolic diseases, Cardiovascular 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
Fpld1 57 53 59
Familial Partial Lipodystrophy, Köbberling Type 53 59
Familial Partial Lipodystrophy Type 1 53 59
Lipodystrophy, Familial Partial, Kobberling Type 57
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 fpld1, is related to lipodystrophy, partial, acquired and partial lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 1 is LMNA (Lamin A/C). Affiliated tissues include ovary and skin, and related phenotypes are polycystic ovaries and diabetes mellitus

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

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

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

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

GO Terms for Lipodystrophy, Familial Partial, Type 1

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
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