FPL2
MCID: LPD015
MIFTS: 39

Lipodystrophy, Familial Partial, Type 2 (FPL2) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Lipodystrophy, Familial Partial, Type 2

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 diabetes mellitus, 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:47 151660

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 2

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43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
fpld2:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

lipodystrophy, familial partial, type 2 43 20 22
fpld2 43 49
lipodystrophy, familial, of limbs and lower trunk 43
lipodystrophy, familial partial, dunnigan type 43
familial partial lipodystrophy, dunnigan type 49
familial partial lipodystrophy, type 2 62
familial partial lipodystrophy type 2 49
lipodystrophy, familial partial, 2 47
lipodystrophy, reverse partial 43
lipoatrophic diabetes 43
dunnigan syndrome 49
fpl2 43


External Ids:

OMIM47 151660
ICD10 via Orphanet26 E88.1
UMLS via Orphanet63 C1720860

Related Diseases for Lipodystrophy, Familial Partial, Type 2

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, Type 2:



Diseases related to lipodystrophy, familial partial, type 2

Symptoms for Lipodystrophy, Familial Partial, Type 2

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

151660

Clinical features from OMIM:

151660

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Lipodystrophy, Familial Partial, Type 2

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

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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33MalaCards
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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 2:

33
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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Variations for Lipodystrophy, Familial Partial, Type 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, Type 2:

64 (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

Clinvar genetic disease variations for Lipodystrophy, Familial Partial, Type 2:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.178C> G (p.Arg60Gly)single nucleotide variantPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_005572.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_005572.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_005572.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_005572.3(LMNA): c.1445G> T (p.Arg482Leu)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_005572.3(LMNA): c.1394G> A (p.Gly465Asp)single nucleotide variantPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)single nucleotide variantPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNALMNA, IVS8, G-C, +5single nucleotide variantPathogenic
10LMNANM_170707.3(LMNA): c.1718C> T (p.Ser573Leu)single nucleotide variantPathogenic, Uncertain significancers60890628GRCh37Chr 1, 156108298: 156108298
11LMNANM_005572.3(LMNA): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
12LMNANM_005572.3(LMNA): c.1195C> T (p.Arg399Cys)single nucleotide variantPathogenicrs58672172GRCh37Chr 1, 156106042: 156106042

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

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

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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet