MCID: LPT011
MIFTS: 17

Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy

Categories: Cardiovascular diseases, Endocrine diseases, Liver diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

MalaCards integrated aliases for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy:

Name: Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 58
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 6

Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


Summaries for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

MalaCards based summary : Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy, is also known as lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules. Affiliated tissues include liver and skin, and related phenotypes are pectus excavatum and hepatomegaly

Related Diseases for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

Symptoms & Phenotypes for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

Human phenotypes related to Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 hallmark (90%) HP:0000767
2 hepatomegaly 31 hallmark (90%) HP:0002240
3 type ii diabetes mellitus 31 hallmark (90%) HP:0005978
4 fatigue 31 hallmark (90%) HP:0012378
5 hypertrophic cardiomyopathy 31 hallmark (90%) HP:0001639
6 hypertriglyceridemia 31 hallmark (90%) HP:0002155
7 hypermelanotic macule 31 hallmark (90%) HP:0001034
8 telangiectasia of the skin 31 hallmark (90%) HP:0100585
9 papule 31 hallmark (90%) HP:0200034
10 narrow chest 31 hallmark (90%) HP:0000774
11 thin skin 31 hallmark (90%) HP:0000963
12 hepatic steatosis 31 hallmark (90%) HP:0001397
13 premature graying of hair 31 hallmark (90%) HP:0002216
14 thin vermilion border 31 hallmark (90%) HP:0000233
15 high forehead 31 hallmark (90%) HP:0000348
16 patchy hypo- and hyperpigmentation 31 hallmark (90%) HP:0007509
17 fasting hyperinsulinemia 31 hallmark (90%) HP:0008283
18 gout 31 hallmark (90%) HP:0001997
19 calf muscle hypertrophy 31 hallmark (90%) HP:0008981
20 aortic valve calcification 31 hallmark (90%) HP:0004380
21 insulin-resistant diabetes mellitus 31 hallmark (90%) HP:0000831
22 prominent superficial veins 31 hallmark (90%) HP:0001015
23 aortic regurgitation 31 hallmark (90%) HP:0001659
24 glycosuria 31 hallmark (90%) HP:0003076
25 hyperglycemia 31 hallmark (90%) HP:0003074
26 aortic root aneurysm 31 hallmark (90%) HP:0002616
27 progeroid facial appearance 31 hallmark (90%) HP:0005328
28 precocious atherosclerosis 31 hallmark (90%) HP:0004416
29 generalized lipodystrophy 31 hallmark (90%) HP:0009064
30 abnormality of circulating leptin level 31 hallmark (90%) HP:0004361
31 sunken cheeks 31 hallmark (90%) HP:0009938
32 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
33 abnormal circulating fatty-acid concentration 31 hallmark (90%) HP:0004359
34 sinus bradycardia 31 occasional (7.5%) HP:0001688

Drugs & Therapeutics for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

Search Clinical Trials , NIH Clinical Center for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy

Genetic Tests for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

Anatomical Context for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

MalaCards organs/tissues related to Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy:

40
Liver, Skin

Publications for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

Variations for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

ClinVar genetic disease variations for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy:

6 (show all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.1566C>T (p.Cys522=)SNV Conflicting interpretations of pathogenicity 48043 rs149339264 1:156106981-156106981 1:156137190-156137190
2 LMNA NM_170707.4(LMNA):c.1149G>A (p.Glu383=)SNV Conflicting interpretations of pathogenicity 66780 rs267607603 1:156105904-156105904 1:156136113-156136113
3 LMNA NM_170707.4(LMNA):c.1551G>A (p.Gln517=)SNV Conflicting interpretations of pathogenicity 199111 rs41314035 1:156106966-156106966 1:156137175-156137175
4 LMNA NM_170707.4(LMNA):c.936+12C>TSNV Conflicting interpretations of pathogenicity 292837 rs199881992 1:156105115-156105115 1:156135324-156135324
5 LMNA NM_170707.4(LMNA):c.1488G>A (p.Thr496=)SNV Conflicting interpretations of pathogenicity 292839 rs375516745 1:156106819-156106819 1:156137028-156137028
6 LMNA NM_170707.4(LMNA):c.514-11C>TSNV Conflicting interpretations of pathogenicity 292836 rs886045365 1:156104183-156104183 1:156134392-156134392
7 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=)SNV Conflicting interpretations of pathogenicity 292834 rs886045363 1:156085003-156085003 1:156115212-156115212
8 LMNA NM_170707.4(LMNA):c.1698+124C>TSNV Uncertain significance 368833 rs1057516022 1:156107658-156107658 1:156137867-156137867
9 LMNA NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)SNV Uncertain significance 292838 rs775159300 1:156105740-156105740 1:156135949-156135949
10 LMNA NM_170707.4(LMNA):c.-109G>TSNV Uncertain significance 292830 rs886045360 1:156084601-156084601 1:156114810-156114810
11 LMNA NM_170707.4(LMNA):c.-5C>ASNV Uncertain significance 292833 rs886045362 1:156084705-156084705 1:156114914-156114914
12 LMNA NM_005572.3(LMNA):c.-226C>TSNV Uncertain significance 292823 rs886045354 1:156084484-156084484 1:156114693-156114693
13 LMNA NM_005572.3(LMNA):c.-225C>ASNV Uncertain significance 292824 rs886045355 1:156084485-156084485 1:156114694-156114694
14 LMNA NM_005572.3(LMNA):c.-210T>CSNV Uncertain significance 292825 rs886045356 1:156084500-156084500 1:156114709-156114709
15 LMNA NM_170707.4(LMNA):c.-183C>ASNV Uncertain significance 292826 rs886045357 1:156084527-156084527 1:156114736-156114736
16 LMNA NM_170707.4(LMNA):c.-142C>ASNV Uncertain significance 292827 rs886045358 1:156084568-156084568 1:156114777-156114777
17 LMNA NM_170707.4(LMNA):c.-138T>CSNV Uncertain significance 292828 rs886045359 1:156084572-156084572 1:156114781-156114781
18 LMNA NM_170707.4(LMNA):c.-62C>ASNV Uncertain significance 292832 rs886045361 1:156084648-156084648 1:156114857-156114857
19 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)SNV Uncertain significance 292835 rs886045364 1:156085004-156085004 1:156115213-156115213
20 LMNA NM_170707.4(LMNA):c.-128T>CSNV Likely benign 292829 rs80356803 1:156084582-156084582 1:156114791-156114791
21 LMNA NM_170707.4(LMNA):c.-88G>TSNV Likely benign 292831 rs115800510 1:156084622-156084622 1:156114831-156114831
22 LMNA NM_170707.4(LMNA):c.1698+57G>ASNV Likely benign 292840 rs557334569 1:156107591-156107591 1:156137800-156137800
23 LMNA NM_170707.4(LMNA):c.612G>A (p.Leu204=)SNV Benign/Likely benign 48071 rs12117552 1:156104292-156104292 1:156134501-156134501
24 LMNA NM_170707.4(LMNA):c.811-13T>ASNV Benign/Likely benign 48086 rs80356809 1:156104965-156104965 1:156135174-156135174
25 LMNA NM_170707.4(LMNA):c.1584G>A (p.Thr528=)SNV Benign/Likely benign 48044 rs80356812 1:156106999-156106999 1:156137208-156137208
26 LMNA NM_170707.4(LMNA):c.51C>T (p.Ser17=)SNV Benign/Likely benign 36479 rs11549668 1:156084760-156084760 1:156114969-156114969
27 LMNA NM_170707.4(LMNA):c.810+13G>TSNV Benign 36480 rs11264444 1:156104779-156104779 1:156134988-156134988
28 LMNA NM_170707.4(LMNA):c.1338T>C (p.Asp446=)SNV Benign 48037 rs505058 1:156106185-156106185 1:156136394-156136394
29 LMNA NM_005572.3(LMNA):c.1698C>T (p.His566=)SNV Benign 48048 rs4641 1:156107534-156107534 1:156137743-156137743
30 LMNA NM_170707.4(LMNA):c.861T>C (p.Ala287=)SNV Benign 48088 rs538089 1:156105028-156105028 1:156135237-156135237

Expression for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

Search GEO for disease gene expression data for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy.

Pathways for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

GO Terms for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

Sources for Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver...

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