TNDM2
MCID: DBT098
MIFTS: 20

Diabetes Mellitus, Transient Neonatal, 2 (TNDM2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 2

MalaCards integrated aliases for Diabetes Mellitus, Transient Neonatal, 2:

Name: Diabetes Mellitus, Transient Neonatal, 2 57 70
Transient Neonatal Diabetes Mellitus 2 72 29 6
Diabetes Mellitus, Transient Neonatal 2 57 13
Tndm2 57 72
Diabetes Mellitus, Transient Neonatal, Type 2 39

Characteristics:

HPO:

31
diabetes mellitus, transient neonatal, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 610374
MedGen 41 C1835887
SNOMED-CT via HPO 68 237603002 263681008 44054006
UMLS 70 C1835887

Summaries for Diabetes Mellitus, Transient Neonatal, 2

UniProtKB/Swiss-Prot : 72 Transient neonatal diabetes mellitus 2: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence.

MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 2, is also known as transient neonatal diabetes mellitus 2. An important gene associated with Diabetes Mellitus, Transient Neonatal, 2 is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Related phenotypes are type ii diabetes mellitus and transient neonatal diabetes mellitus

More information from OMIM: 610374

Related Diseases for Diabetes Mellitus, Transient Neonatal, 2

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 2

Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 2:

31
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 31 very rare (1%) HP:0005978
2 transient neonatal diabetes mellitus 31 HP:0008255

Clinical features from OMIM®:

610374 (Updated 20-May-2021)

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 2

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 2

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 2

Genetic tests related to Diabetes Mellitus, Transient Neonatal, 2:

# Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 2 29 ABCC8

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 2

Publications for Diabetes Mellitus, Transient Neonatal, 2

Articles related to Diabetes Mellitus, Transient Neonatal, 2:

# Title Authors PMID Year
1
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 6 57
16885549 2006
2
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. 6
18025464 2007

Variations for Diabetes Mellitus, Transient Neonatal, 2

ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 2:

6 (show top 50) (show all 128)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCC8 NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) SNV Pathogenic 210076 rs797045209 GRCh37: 11:17426072-17426072
GRCh38: 11:17404525-17404525
2 ABCC8 NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) SNV Pathogenic 9105 rs137852673 GRCh37: 11:17417462-17417462
GRCh38: 11:17395915-17395915
3 ABCC8 NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val) SNV Pathogenic 9106 rs137852674 GRCh37: 11:17452434-17452434
GRCh38: 11:17430887-17430887
4 ABCC8 NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) SNV Pathogenic 35611 rs193922400 GRCh37: 11:17426071-17426071
GRCh38: 11:17404524-17404524
5 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic 495834 rs72559734 GRCh37: 11:17496502-17496502
GRCh38: 11:17474955-17474955
6 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic 188915 rs72559722 GRCh37: 11:17434263-17434263
GRCh38: 11:17412716-17412716
7 ABCC8 NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) SNV Likely pathogenic 446778 rs796891223 GRCh37: 11:17415261-17415261
GRCh38: 11:17393714-17393714
8 ABCC8 NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) SNV Likely pathogenic 434045 rs72559715 GRCh37: 11:17415926-17415926
GRCh38: 11:17394379-17394379
9 ABCC8 NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) SNV Likely pathogenic 35617 rs193922402 GRCh37: 11:17417158-17417158
GRCh38: 11:17395611-17395611
10 ABCC8 NM_000352.5(ABCC8):c.290+2T>C SNV Likely pathogenic 552247 rs1554948310 GRCh37: 11:17496431-17496431
GRCh38: 11:17474884-17474884
11 ABCC8 NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) SNV Uncertain significance 303785 rs368894930 GRCh37: 11:17485023-17485023
GRCh38: 11:17463476-17463476
12 ABCC8 NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) SNV Uncertain significance 303768 rs776248166 GRCh37: 11:17428604-17428604
GRCh38: 11:17407057-17407057
13 ABCC8 NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) SNV Uncertain significance 303781 rs886048054 GRCh37: 11:17464284-17464284
GRCh38: 11:17442737-17442737
14 ABCC8 NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) SNV Uncertain significance 303749 rs780203284 GRCh37: 11:17415247-17415247
GRCh38: 11:17393700-17393700
15 ABCC8 NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) SNV Uncertain significance 303751 rs373478721 GRCh37: 11:17417225-17417225
GRCh38: 11:17395678-17395678
16 ABCC8 NM_000352.5(ABCC8):c.4307+13A>C SNV Uncertain significance 303750 rs886048047 GRCh37: 11:17417144-17417144
GRCh38: 11:17395597-17395597
17 ABCC8 NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) SNV Uncertain significance 303769 rs780868010 GRCh37: 11:17428660-17428660
GRCh38: 11:17407113-17407113
18 ABCC8 NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) SNV Uncertain significance 303767 rs775087568 GRCh37: 11:17428544-17428544
GRCh38: 11:17406997-17406997
19 ABCC8 NM_000352.6(ABCC8):c.*93T>A SNV Uncertain significance 303746 rs886048046 GRCh37: 11:17414445-17414445
GRCh38: 11:17392898-17392898
20 ABCC8 NM_000352.5(ABCC8):c.2256-9C>T SNV Uncertain significance 303775 rs886048052 GRCh37: 11:17436895-17436895
GRCh38: 11:17415348-17415348
21 ABCC8 NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) SNV Uncertain significance 303771 rs531684936 GRCh37: 11:17432122-17432122
GRCh38: 11:17410575-17410575
22 ABCC8 NM_000352.5(ABCC8):c.4199-8C>T SNV Uncertain significance 303752 rs886048048 GRCh37: 11:17417273-17417273
GRCh38: 11:17395726-17395726
23 ABCC8 NM_000352.5(ABCC8):c.2694+15G>A SNV Uncertain significance 303770 rs886048051 GRCh37: 11:17432048-17432048
GRCh38: 11:17410501-17410501
24 ABCC8 NM_000352.5(ABCC8):c.3558-6C>G SNV Uncertain significance 303760 rs886048050 GRCh37: 11:17424306-17424306
GRCh38: 11:17402759-17402759
25 ABCC8 NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) SNV Uncertain significance 303759 rs886048049 GRCh37: 11:17419934-17419934
GRCh38: 11:17398387-17398387
26 ABCC8 NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) SNV Uncertain significance 303782 rs886048055 GRCh37: 11:17464292-17464292
GRCh38: 11:17442745-17442745
27 ABCC8 NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) SNV Uncertain significance 880150 GRCh37: 11:17483165-17483165
GRCh38: 11:17461618-17461618
28 ABCC8 NM_000352.6(ABCC8):c.507C>T (p.Phe169=) SNV Uncertain significance 878978 GRCh37: 11:17485057-17485057
GRCh38: 11:17463510-17463510
29 ABCC8 NM_000352.6(ABCC8):c.74G>T (p.Gly25Val) SNV Uncertain significance 880248 GRCh37: 11:17498250-17498250
GRCh38: 11:17476703-17476703
30 ABCC8 NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp) SNV Uncertain significance 879829 GRCh37: 11:17418851-17418851
GRCh38: 11:17397304-17397304
31 ABCC8 NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) SNV Uncertain significance 879979 GRCh37: 11:17448601-17448601
GRCh38: 11:17427054-17427054
32 ABCC8 NM_000352.6(ABCC8):c.1924-9C>T SNV Uncertain significance 880040 GRCh37: 11:17449961-17449961
GRCh38: 11:17428414-17428414
33 ABCC8 NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val) SNV Uncertain significance 877308 GRCh37: 11:17470113-17470113
GRCh38: 11:17448566-17448566
34 ABCC8 NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) SNV Uncertain significance 434050 rs138687850 GRCh37: 11:17448642-17448642
GRCh38: 11:17427095-17427095
35 ABCC8 NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) SNV Uncertain significance 210067 rs67254669 GRCh37: 11:17470143-17470143
GRCh38: 11:17448596-17448596
36 ABCC8 NM_001287174.2(ABCC8):c.413-5G>A SNV Uncertain significance 35613 rs186946111 GRCh37: 11:17485156-17485156
GRCh38: 11:17463609-17463609
37 ABCC8 NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) SNV Uncertain significance 558717 rs761862121 GRCh37: 11:17432091-17432091
GRCh38: 11:17410544-17410544
38 ABCC8 NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) SNV Uncertain significance 877185 GRCh37: 11:17448612-17448612
GRCh38: 11:17427065-17427065
39 ABCC8 NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) SNV Uncertain significance 877186 GRCh37: 11:17448655-17448655
GRCh38: 11:17427108-17427108
40 ABCC8 NM_000352.6(ABCC8):c.1215C>T (p.Ser405=) SNV Uncertain significance 877310 GRCh37: 11:17470180-17470180
GRCh38: 11:17448633-17448633
41 ABCC8 NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr) SNV Uncertain significance 877361 GRCh37: 11:17483218-17483218
GRCh38: 11:17461671-17461671
42 ABCC8 NM_000352.6(ABCC8):c.4545+9T>C SNV Uncertain significance 877783 GRCh37: 11:17415804-17415804
GRCh38: 11:17394257-17394257
43 ABCC8 NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) SNV Uncertain significance 792785 rs771538281 GRCh37: 11:17428255-17428255
GRCh38: 11:17406708-17406708
44 ABCC8 NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=) SNV Uncertain significance 878111 GRCh37: 11:17428521-17428521
GRCh38: 11:17406974-17406974
45 ABCC8 NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) SNV Uncertain significance 878388 GRCh37: 11:17483332-17483332
GRCh38: 11:17461785-17461785
46 ABCC8 NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn) SNV Uncertain significance 878389 GRCh37: 11:17483365-17483365
GRCh38: 11:17461818-17461818
47 ABCC8 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) SNV Uncertain significance 188931 rs72559716 GRCh37: 11:17416719-17416719
GRCh38: 11:17395172-17395172
48 ABCC8 NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=) SNV Uncertain significance 878824 GRCh37: 11:17416720-17416720
GRCh38: 11:17395173-17395173
49 ABCC8 NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val) SNV Uncertain significance 878825 GRCh37: 11:17416764-17416764
GRCh38: 11:17395217-17395217
50 ABCC8 NM_000352.6(ABCC8):c.933G>C (p.Leu311=) SNV Uncertain significance 878930 GRCh37: 11:17482113-17482113
GRCh38: 11:17460566-17460566

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 2:

72
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Cys435Arg VAR_029780
2 ABCC8 p.Leu582Val VAR_029781 rs137852674
3 ABCC8 p.His1023Tyr VAR_029782
4 ABCC8 p.Arg1182Gln VAR_029783 rs193922400
5 ABCC8 p.Arg1379Cys VAR_029785 rs137852673

Expression for Diabetes Mellitus, Transient Neonatal, 2

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Pathways for Diabetes Mellitus, Transient Neonatal, 2

GO Terms for Diabetes Mellitus, Transient Neonatal, 2

Sources for Diabetes Mellitus, Transient Neonatal, 2

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56 OMIM via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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