FPL2
MCID: LPD015
MIFTS: 41

Lipodystrophy, Familial Partial, Type 2 (FPL2) malady

Skin diseases, Endocrine diseases, Fetal diseases, Genetic diseases categories

Summaries for Lipodystrophy, Familial Partial, Type 2

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin... more...

MalaCards: Lipodystrophy, Familial Partial, Type 2, also known as fpld2, is related to lipoatrophic diabetes and congenital generalized lipodystrophy, and has symptoms including heart/cardiac failure, angor pectoris/myocardial infarction and cardiomyopathy/hypertrophic/dilated. An important gene associated with Lipodystrophy, Familial Partial, Type 2 is LMNA (lamin A/C). Affiliated tissues include skin, liver and ovary.

Description from OMIM:46 151660

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 2

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Genetic diseases
Anatomical: Skin diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
fpld2:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

lipodystrophy, familial partial, type 2 42 20 22
fpld2 42 48
lipodystrophy, familial, of limbs and lower trunk 42
lipodystrophy, familial partial, dunnigan type 42
familial partial lipodystrophy, dunnigan type 48
familial partial lipodystrophy, type 2 60
familial partial lipodystrophy type 2 48
lipodystrophy, familial partial, 2 46
lipoatrophic diabetes 42
dunnigan syndrome 48
fpl2 42


External Ids:

OMIM46 151660
ICD10 via Orphanet26 E88.1

Related Diseases for Lipodystrophy, Familial Partial, Type 2

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Lipodystrophy, Familial Partial, Type 2:



Diseases related to lipodystrophy, familial partial, type 2

Clinical Features for Lipodystrophy, Familial Partial, Type 2

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46OMIM, 48Orphanet
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Clinical features from OMIM:

151660

Clinical synopsis from OMIM:

151660

Symptoms:

48 (show all 36)
  • heart/cardiac failure
  • angor pectoris/myocardial infarction
  • cardiomyopathy/hypertrophic/dilated
  • splenomegaly
  • pancreatitis
  • liver/hepatic steatosis
  • renal glomerular defect/glomerulopathy
  • abnormal/polycystic ovaries
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • cranial nerves palsy
  • myopathy
  • myalgia/muscular pain
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • anomalies of complement
  • maternal hypertension/eclampsia/preeclampsia/gravidic toxemia
  • storage liver disease
  • hirsutism/hypertrichosis/increased body hair
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • muscle hypertrophy
  • insulin resistance
  • diabetes mellitus
  • hepatomegaly/liver enlargement (excluding storage disease)
  • xanthomas/lipomas
  • lipoatrophy
  • skin hypoplasia/aplasia/atrophy
  • autosomal dominant inheritance
  • abnormal fat distribution/lipodystrophy
  • acanthosis nigricans
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • precocious menopause/secondary amenorrhea
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • nails anomalies
  • thin skin
  • anomalies of skin, subcutaneous tissue and mucosae
  • premature eruption of teeth/natal teeth
  • round face

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Lipodystrophy, Familial Partial, Type 2

Drug clinical trials:

Search ClinicalTrials for Lipodystrophy, Familial Partial, Type 2

Search NIH Clinical Center for Lipodystrophy, Familial Partial, Type 2

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Genetic Tests for Lipodystrophy, Familial Partial, Type 2

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20GeneTests, 22GTR
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Genetic tests related to Lipodystrophy, Familial Partial, Type 2:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy Type 220 LMNA
2 Lipodystrophy, Familial Partial, Type 222

Anatomical Context for Lipodystrophy, Familial Partial, Type 2

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32MalaCards
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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 2:

32
Skin, Liver, Ovary, Heart

Animal Models for Lipodystrophy, Familial Partial, Type 2 or affiliated genes

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Publications for Lipodystrophy, Familial Partial, Type 2

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Genetic Variations for Lipodystrophy, Familial Partial, Type 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Lipodystrophy, Familial Partial, Type 2:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1LMNAp.Gly465AspVAR_009989
2LMNAp.Arg482LeuVAR_009991
3LMNAp.Arg482GlnVAR_009992rs11575937
4LMNAp.Arg482TrpVAR_009993
5LMNAp.Lys486AsnVAR_009994
6LMNAp.Arg527ProVAR_009995
7LMNAp.Arg582HisVAR_009998rs57830985
8LMNAp.Arg133LeuVAR_016913
9LMNAp.Arg60GlyVAR_034706rs28928900
10LMNAp.Arg28TrpVAR_039748rs59914820
11LMNAp.Arg62GlyVAR_039755rs56793579
12LMNAp.Asp230AsnVAR_039770
13LMNAp.Arg399CysVAR_039778
14LMNAp.Ser573LeuVAR_039789
15LMNAp.Arg439CysVAR_070181

Expression for genes affiliated with Lipodystrophy, Familial Partial, Type 2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lipodystrophy, Familial Partial, Type 2

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 2.

Pathways for genes affiliated with Lipodystrophy, Familial Partial, Type 2

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Compounds for genes affiliated with Lipodystrophy, Familial Partial, Type 2

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GO Terms for genes affiliated with Lipodystrophy, Familial Partial, Type 2

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Products for genes affiliated with Lipodystrophy, Familial Partial, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipodystrophy, Familial Partial, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet