MCID: RRG011
MIFTS: 23

Rare Genetic Diabetes Mellitus

Categories: Rare diseases

Aliases & Classifications for Rare Genetic Diabetes Mellitus

MalaCards integrated aliases for Rare Genetic Diabetes Mellitus:

Name: Rare Genetic Diabetes Mellitus 58

Classifications:



External Ids:

Orphanet 58 ORPHA183625

Summaries for Rare Genetic Diabetes Mellitus

MalaCards based summary : Rare Genetic Diabetes Mellitus is related to donohue syndrome and maturity-onset diabetes of the young, type 8, with exocrine dysfunction. An important gene associated with Rare Genetic Diabetes Mellitus is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways are Hepatic ABC Transporters and Regulation of beta-cell development. Related phenotypes are growth/size/body region and adipose tissue

Related Diseases for Rare Genetic Diabetes Mellitus

Diseases related to Rare Genetic Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 donohue syndrome 10.0 GCK BSCL2
2 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 9.9 HNF1A GCK
3 maturity-onset diabetes of the young, type 1 9.9 HNF1A GCK
4 maturity-onset diabetes of the young, type 13 9.9 HNF1A GCK
5 maturity-onset diabetes of the young, type 6 9.9 HNF1A GCK
6 maturity-onset diabetes of the young, type 4 9.9 HNF1A GCK
7 maturity-onset diabetes of the young, type 2 9.9 HNF1A GCK
8 renal cysts and diabetes syndrome 9.8 HNF1A GCK
9 maturity-onset diabetes of the young, type 3 9.8 HNF1A GCK
10 lipodystrophy, familial partial, type 1 9.8 LMNA BSCL2
11 rare diabetes mellitus type 2 9.8 HNF1A GCK
12 acquired generalized lipodystrophy 9.8 LMNA BSCL2
13 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.8 LMNA BSCL2
14 lipodystrophy, familial partial, type 3 9.8 LMNA BSCL2
15 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.8 LMNA BSCL2
16 lipodystrophy, congenital generalized, type 1 9.8 LMNA BSCL2
17 complete generalized lipodystrophy 9.8 LMNA BSCL2
18 lipodystrophy, congenital generalized, type 2 9.8 LMNA BSCL2
19 lipodystrophy, familial partial, type 5 9.8 LMNA BSCL2
20 hyperinsulinemic hypoglycemia 9.7 HNF1A GCK
21 neonatal diabetes mellitus 9.7 HNF1A GCK
22 pigmentation disease 9.7 LMNA BSCL2
23 congenital generalized lipodystrophy 9.7 LMNA BSCL2
24 insulinoma 9.7 HNF1A GCK
25 lipodystrophy, familial partial, type 2 9.7 LMNA BSCL2
26 autosomal dominant distal hereditary motor neuronopathy 9.7 LMNA BSCL2
27 familial partial lipodystrophy 9.7 LMNA BSCL2
28 gestational diabetes 9.7 HNF1A GCK
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.6 HNF1A GCK
30 hyperinsulinism 9.6 MC4R GCK
31 glucose intolerance 9.3 LMNA HNF1A GCK
32 muscular atrophy 9.3 LMNA BSCL2
33 body mass index quantitative trait locus 11 8.9 MC4R LMNA HNF1A GCK
34 diabetes mellitus 8.6 MC4R LMNA HNF1A GCK BSCL2
35 monogenic diabetes 8.6 MC4R LMNA HNF1A GCK BSCL2
36 diabetes mellitus, noninsulin-dependent 8.6 MC4R LMNA HNF1A GCK BSCL2

Graphical network of the top 20 diseases related to Rare Genetic Diabetes Mellitus:



Diseases related to Rare Genetic Diabetes Mellitus

Symptoms & Phenotypes for Rare Genetic Diabetes Mellitus

MGI Mouse Phenotypes related to Rare Genetic Diabetes Mellitus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.77 BSCL2 GCK HNF1A LMNA MC4R
2 adipose tissue MP:0005375 9.73 BSCL2 HNF1A LMNA MC4R
3 homeostasis/metabolism MP:0005376 9.72 BSCL2 GCK HNF1A LMNA MC4R
4 endocrine/exocrine gland MP:0005379 9.71 BSCL2 GCK HNF1A LMNA
5 liver/biliary system MP:0005370 9.65 BSCL2 GCK HNF1A LMNA MC4R
6 renal/urinary system MP:0005367 9.46 BSCL2 GCK HNF1A LMNA
7 reproductive system MP:0005389 9.26 BSCL2 HNF1A LMNA MC4R
8 skeleton MP:0005390 8.92 BSCL2 HNF1A LMNA MC4R

Drugs & Therapeutics for Rare Genetic Diabetes Mellitus

Search Clinical Trials , NIH Clinical Center for Rare Genetic Diabetes Mellitus

Genetic Tests for Rare Genetic Diabetes Mellitus

Anatomical Context for Rare Genetic Diabetes Mellitus

Publications for Rare Genetic Diabetes Mellitus

Variations for Rare Genetic Diabetes Mellitus

ClinVar genetic disease variations for Rare Genetic Diabetes Mellitus:

6 (show top 50) (show all 444) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSCL2 NM_032667.6(BSCL2):c.439-1G>CSNV Pathogenic 393432 rs1057524896 11:62460270-62460270 11:62692798-62692798
2 GCK NM_000162.5(GCK):c.1253+2T>ASNV Pathogenic 393449 rs1057524902 7:44185094-44185094 7:44145495-44145495
3 GCK NM_000162.5(GCK):c.1016A>G (p.Glu339Gly)SNV Pathogenic 393450 rs1057524903 7:44186065-44186065 7:44146466-44146466
4 HNF1A NM_000545.6(HNF1A):c.694dup (p.Leu232fs)duplication Pathogenic 393456 rs1057524908 12:121431489-121431490 12:120993686-120993687
5 GCK NM_000162.5(GCK):c.680-1G>ASNV Pathogenic 393452 rs1057524905 7:44187433-44187433 7:44147834-44147834
6 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)SNV Pathogenic 562356 rs369841551 18:58039117-58039117 18:60371884-60371884
7 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
8 HNF1A NM_000545.6(HNF1A):c.815G>A (p.Arg272His)SNV Pathogenic 14931 rs137853238 12:121432068-121432068 12:120994265-120994265
9 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
10 GCK NM_000162.5(GCK):c.128G>A (p.Arg43His)SNV Likely pathogenic 393453 rs764232985 7:44192980-44192980 7:44153381-44153381
11 GCK NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)SNV Likely pathogenic 393447 rs1057524900 7:44184772-44184772 7:44145173-44145173
12 GCK NM_000162.5(GCK):c.1344del (p.Ala449fs)deletion Likely pathogenic 393448 rs1057524901 7:44184789-44184789 7:44145190-44145190
13 INS NM_000207.3(INS):c.278A>G (p.Glu93Gly)SNV Likely pathogenic 393455 rs1057524907 11:2181137-2181137 11:2159907-2159907
14 CAV1 NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)SNV Conflicting interpretations of pathogenicity 541324 rs201966419 7:116199304-116199304 7:116559250-116559250
15 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr)SNV Conflicting interpretations of pathogenicity 549514 rs140413151 4:108948850-108948850 4:108027694-108027694
16 ALMS1 NM_015120.4(ALMS1):c.3815C>A (p.Pro1272Gln)SNV Conflicting interpretations of pathogenicity 529367 rs372563916 2:73677466-73677466 2:73450339-73450339
17 ALMS1 NM_015120.4(ALMS1):c.3467A>C (p.His1156Pro)SNV Conflicting interpretations of pathogenicity 529374 rs553406974 2:73677118-73677118 2:73449991-73449991
18 PPP1R3A NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala)SNV Conflicting interpretations of pathogenicity 549521 rs138812345 7:113519930-113519930 7:113879875-113879875
19 GLIS3 NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg)SNV Conflicting interpretations of pathogenicity 549530 rs376031632 9:4118279-4118279 9:4118279-4118279
20 GCK NM_000162.5(GCK):c.748C>T (p.Arg250Cys)SNV Conflicting interpretations of pathogenicity 393451 rs1057524904 7:44187364-44187364 7:44147765-44147765
21 ALMS1 NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val)SNV Conflicting interpretations of pathogenicity 403950 rs202111717 2:73675263-73675263 2:73448136-73448136
22 ABCC8 NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)SNV Conflicting interpretations of pathogenicity 393429 rs59852838 11:17474775-17474775 11:17453228-17453228
23 ABCC8 NM_000352.6(ABCC8):c.375C>G (p.His125Gln)SNV Conflicting interpretations of pathogenicity 393430 rs60637558 11:17491685-17491685 11:17470138-17470138
24 GCK NM_000162.5(GCK):c.122T>C (p.Met41Thr)SNV Conflicting interpretations of pathogenicity 393454 rs1057524906 7:44192986-44192986 7:44153387-44153387
25 ALMS1 NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser)SNV Conflicting interpretations of pathogenicity 426619 rs199874928 2:73827901-73827901 2:73600774-73600774
26 PPARG NM_015869.4(PPARG):c.1003G>C (p.Val335Leu)SNV Conflicting interpretations of pathogenicity 436394 rs139894525 3:12458386-12458386 3:12416887-12416887
27 RFX6 NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)SNV Conflicting interpretations of pathogenicity 436531 rs146115506 6:117246670-117246670 6:116925507-116925507
28 ABCC8 NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)SNV Conflicting interpretations of pathogenicity 434043 rs142272833 11:17415289-17415289 11:17393742-17393742
29 ABCC8 NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)SNV Conflicting interpretations of pathogenicity 434053 rs769518471 11:17428605-17428605 11:17407058-17407058
30 ALMS1 NM_015120.4(ALMS1):c.4225G>A (p.Val1409Ile)SNV Conflicting interpretations of pathogenicity 459867 rs200529564 2:73677876-73677876 2:73450749-73450749
31 ALMS1 NM_015120.4(ALMS1):c.4319A>C (p.Tyr1440Ser)SNV Conflicting interpretations of pathogenicity 459868 rs201971114 2:73677970-73677970 2:73450843-73450843
32 AGPAT2 NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)SNV Conflicting interpretations of pathogenicity 393423 rs142417583 9:139568232-139568232 9:136673780-136673780
33 AGPAT2 NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)SNV Conflicting interpretations of pathogenicity 393424 rs142248792 9:139569208-139569208 9:136674756-136674756
34 GLIS3 NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)SNV Conflicting interpretations of pathogenicity 393416 rs138497710 9:4118287-4118287 9:4118287-4118287
35 AGPAT2 NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)SNV Conflicting interpretations of pathogenicity 393427 rs563539429 9:139571992-139571992 9:136677540-136677540
36 GLIS3 NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys)SNV Conflicting interpretations of pathogenicity 393413 rs145867412 9:3898724-3898724 9:3898724-3898724
37 GLIS3 NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)SNV Conflicting interpretations of pathogenicity 393419 rs148168366 9:4286194-4286194 9:4286194-4286194
38 SLC19A2 NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)SNV Conflicting interpretations of pathogenicity 393365 rs61734338 1:169439408-169439408 1:169470170-169470170
39 KLF11 NM_003597.5(KLF11):c.953T>G (p.Leu318Arg)SNV Conflicting interpretations of pathogenicity 393368 rs144431930 2:10188417-10188417 2:10048290-10048290
40 ALMS1 NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly)SNV Conflicting interpretations of pathogenicity 393370 rs115444326 2:73675692-73675692 2:73448565-73448565
41 ALMS1 NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu)SNV Conflicting interpretations of pathogenicity 393372 rs377354387 2:73677817-73677817 2:73450690-73450690
42 ALMS1 NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn)SNV Conflicting interpretations of pathogenicity 393376 rs200718841 2:73717343-73717343 2:73490216-73490216
43 ALMS1 NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg)SNV Conflicting interpretations of pathogenicity 393378 rs200586877 2:73718475-73718475 2:73491348-73491348
44 HADH NM_005327.5(HADH):c.662G>A (p.Arg221His)SNV Conflicting interpretations of pathogenicity 393392 rs76476980 4:108948869-108948869 4:108027713-108027713
45 RFX6 NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu)SNV Conflicting interpretations of pathogenicity 393396 rs201522681 6:117250084-117250084 6:116928921-116928921
46 LMNA NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)SNV Conflicting interpretations of pathogenicity 66862 rs267607613 1:156107469-156107469 1:156137678-156137678
47 WFS1 NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)SNV Conflicting interpretations of pathogenicity 45443 rs146670741 4:6303408-6303408 4:6301681-6301681
48 BSCL2 NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro)SNV Conflicting interpretations of pathogenicity 128532 rs145649423 11:62457948-62457948 11:62690476-62690476
49 GATA6 NM_005257.5(GATA6):c.592C>G (p.Leu198Val)SNV Conflicting interpretations of pathogenicity 30208 rs387906814 18:19751697-19751697 18:22171736-22171736
50 LMNA NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)SNV Conflicting interpretations of pathogenicity 14527 rs142000963 1:156108510-156108510 1:156138719-156138719

Expression for Rare Genetic Diabetes Mellitus

Search GEO for disease gene expression data for Rare Genetic Diabetes Mellitus.

Pathways for Rare Genetic Diabetes Mellitus

GO Terms for Rare Genetic Diabetes Mellitus

Biological processes related to Rare Genetic Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 8.96 HNF1A GCK
2 insulin secretion GO:0030073 8.62 MC4R HNF1A

Sources for Rare Genetic Diabetes Mellitus

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