FPL2
MCID: LPD015
MIFTS: 39

Lipodystrophy, Familial Partial, Type 2 (FPL2) malady

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

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Wikipedia:65 Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin... more...

MalaCards based summary: Lipodystrophy, Familial Partial, Type 2, also known as lipoatrophic diabetes, is related to lipoatrophic diabetes and diabetes mellitus, and has symptoms including round face, skin hypoplasia/aplasia/atrophy and lipoatrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 2 is LMNA (lamin A/C). Affiliated tissues include skin, liver and heart.

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, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Lipodystrophy, Familial Partial, Type 2, Aliases & Descriptions:

Name: Lipodystrophy, Familial Partial, Type 2 42 20 22
Lipoatrophic Diabetes 42 62
Dunnigan Syndrome 48 62
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 62
Familial Partial Lipodystrophy Type 2 48
Lipodystrophy, Familial Partial, 2 46
Lipodystrophy, Reverse Partial 42
Fpl2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
dunnigan syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM46 151660
ICD10 via Orphanet26 E88.1
UMLS via Orphanet63 C1720860

Related Diseases for Lipodystrophy, Familial Partial, Type 2

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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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Symptoms by clinical synopsis from OMIM:

151660

Clinical features from OMIM:

151660

Symptoms:

48 (show all 36)
  • round face
  • skin hypoplasia/aplasia/atrophy
  • lipoatrophy
  • xanthomas/lipomas
  • hepatomegaly/liver enlargement (excluding storage disease)
  • diabetes mellitus
  • insulin resistance
  • muscle hypertrophy
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • autosomal dominant inheritance
  • abnormal fat distribution/lipodystrophy
  • premature eruption of teeth/natal teeth
  • anomalies of skin, subcutaneous tissue and mucosae
  • thin skin
  • nails anomalies
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • precocious menopause/secondary amenorrhea
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • acanthosis nigricans
  • hirsutism/hypertrichosis/increased body hair
  • storage liver disease
  • liver/hepatic steatosis
  • pancreatitis
  • splenomegaly
  • cardiomyopathy/hypertrophic/dilated
  • angor pectoris/myocardial infarction
  • heart/cardiac failure
  • 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

HPO human phenotypes related to Lipodystrophy, Familial Partial, Type 2:

(show all 58)
id Description Frequency HPO Source Accession
1 round face hallmark (90%) HP:0000311
2 diabetes mellitus hallmark (90%) HP:0000819
3 insulin resistance hallmark (90%) HP:0000855
4 multiple lipomas hallmark (90%) HP:0001012
5 hepatomegaly hallmark (90%) HP:0002240
6 abnormality of lipid metabolism hallmark (90%) HP:0003119
7 muscle hypertrophy hallmark (90%) HP:0003712
8 lipoatrophy hallmark (90%) HP:0100578
9 secondary amenorrhea typical (50%) HP:0000869
10 thin skin typical (50%) HP:0000963
11 abnormality of the nail typical (50%) HP:0001597
12 advanced eruption of teeth typical (50%) HP:0006288
13 polycystic ovaries occasional (7.5%) HP:0000147
14 acanthosis nigricans occasional (7.5%) HP:0000956
15 hypertrichosis occasional (7.5%) HP:0000998
16 hepatic steatosis occasional (7.5%) HP:0001397
17 congestive heart failure occasional (7.5%) HP:0001635
18 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
19 coronary artery disease occasional (7.5%) HP:0001677
20 pancreatitis occasional (7.5%) HP:0001733
21 splenomegaly occasional (7.5%) HP:0001744
22 myopathy occasional (7.5%) HP:0003198
23 myalgia occasional (7.5%) HP:0003326
24 abnormality of complement system occasional (7.5%) HP:0005339
25 cranial nerve paralysis occasional (7.5%) HP:0006824
26 toxemia of pregnancy occasional (7.5%) HP:0100603
27 cellulitis occasional (7.5%) HP:0100658
28 glomerulopathy occasional (7.5%) HP:0100820
29 autosomal dominant inheritance HP:0000006
30 polycystic ovaries HP:0000147
31 increased facial adipose tissue HP:0000287
32 round face HP:0000311
33 increased adipose tissue around the neck HP:0000468
34 hypertension HP:0000822
35 insulin-resistant diabetes mellitus HP:0000831
36 hyperinsulinemia HP:0000842
37 acanthosis nigricans HP:0000956
38 xanthomatosis HP:0000991
39 decreased subcutaneous fat HP:0001002
40 hirsutism HP:0001007
41 prominent superficial veins HP:0001015
42 hepatic steatosis HP:0001397
43 acute pancreatitis HP:0001735
44 hypertriglyceridemia HP:0002155
45 hepatomegaly HP:0002240
46 atherosclerosis HP:0002621
47 hyperglycemia HP:0003074
48 hypoalphalipoproteinemia HP:0003233
49 myalgia HP:0003326
50 loss of subcutaneous adipose tissue in limbs HP:0003635
51 muscle hypertrophy HP:0003712
52 labial pseudohypertrophy HP:0008739
53 adipose tissue loss HP:0008887
54 increased intramuscular fat HP:0008985
55 increased intraabdominal fat HP:0008993
56 loss of truncal subcutaneous adipose tissue HP:0009002
57 lipodystrophy HP:0009125
58 enlarged peripheral nerve HP:0012645

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 2

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

32
Skin, Liver, Heart, Ovary

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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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:

6 (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 variantPathogenicrs60890628GRCh37Chr 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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet