MCID: DBT044
MIFTS: 32

Diabetes Mellitus, Transient Neonatal, 3 malady

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

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 3

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Aliases & Descriptions for Diabetes Mellitus, Transient Neonatal, 3:

Name: Diabetes Mellitus, Transient Neonatal, 3 50 12
Transient Neonatal Diabetes Mellitus 3 68 25
 
Tndm3 68

Characteristics:

HPO:

62
diabetes mellitus, transient neonatal, 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 610582
MedGen35 C1864623

Summaries for Diabetes Mellitus, Transient Neonatal, 3

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UniProtKB/Swiss-Prot:68 Transient neonatal diabetes mellitus 3: Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described.

MalaCards based summary: Diabetes Mellitus, Transient Neonatal, 3, also known as transient neonatal diabetes mellitus 3, is related to diabetes mellitus, transient neonatal, 1 and maturity-onset diabetes of the young, type 13, and has symptoms including transient neonatal diabetes mellitus An important gene associated with Diabetes Mellitus, Transient Neonatal, 3 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways are Potassium Channels and Integration of energy metabolism.

Description from OMIM:50 610582

Related Diseases for Diabetes Mellitus, Transient Neonatal, 3

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Diseases in the Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Transient Neonatal, 1 Diabetes Mellitus, Transient Neonatal 2
diabetes mellitus, transient neonatal, 3 Diabetes Mellitus, 6q24-Related Transient Neonatal
Abcc8-Related Transient Neonatal Diabetes Mellitus 2 Diabetes Mellitus, Kcnj11-Related Transient Neonatal

Diseases related to Diabetes Mellitus, Transient Neonatal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, transient neonatal, 110.0
2maturity-onset diabetes of the young, type 139.9ABCC8, KCNJ11
3usher syndrome, type 1c9.9ABCC8, KCNJ11
4writing disorder9.9ABCC8, KCNJ11
5hemimegalencephaly9.9ABCC8, KCNJ11
6toxic megacolon9.9ABCC8, KCNJ11
7diabetes mellitus, transient neonatal, 39.8ABCC8, KCNJ11
8proximal chromosome 18q deletion syndrome9.8ABCC8, KCNJ11
9acute insulin response9.8ABCC8, KCNJ11
10diaphanospondylodysostosis9.8ABCC8, KCNJ11
11inclusion body myopathy with paget disease of bone and frontotemporal dementia9.8ABCC8, KCNJ11
12perlman syndrome9.8ABCC8, KCNJ11
13patellofemoral pain syndrome9.8ABCC8, KCNJ11
14nephronophthisis 199.8ABCC8, KCNJ11
15laryngeal carcinoma9.8ABCC8, KCNJ11
16hyperlipoproteinemia type iv9.8ABCC8, KCNJ11
17anatomical narrow angle borderline glaucoma9.7ABCC8, KCNJ11
18gestational choriocarcinoma9.7ABCC8, KCNJ11
19short bowel syndrome9.7ABCC8, KCNJ11
20femoral neuropathy9.7ABCC8, KCNJ11
21survival motor neuron spinal muscular atrophy9.6ABCC8, KCNJ11
22hypertrichosis9.6ABCC8, KCNJ11
2318p deletion syndrome9.5ABCC8, KCNJ11
24hepatic adenoma, somatic9.5ABCC8, KCNJ11
25adult spinal muscular atrophy9.4ABCC8, KCNJ11
26diabetes mellitus, noninsulin-dependent9.2ABCC8, KCNJ11

Graphical network of the top 20 diseases related to Diabetes Mellitus, Transient Neonatal, 3:



Diseases related to diabetes mellitus, transient neonatal, 3

Symptoms for Diabetes Mellitus, Transient Neonatal, 3

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Clinical features from OMIM:

610582

HPO human phenotypes related to Diabetes Mellitus, Transient Neonatal, 3:

id Description Frequency HPO Source Accession
1 transient neonatal diabetes mellitus HP:0008255

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 3

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Drugs for Diabetes Mellitus, Transient Neonatal, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProgesteronePhase 351557-83-05994
Synonyms:
(S)-4-Pregnene-3,20-dione
(S)-Pregn-4-en-3,20-dione
(S)-Progesterone
.beta.-Progesterone
.delta.(sup4)-Pregnene-3,20-dione
.delta.4-Pregnene-3,20-dione
17.alpha.-Progesterone
17a-Progesterone
17alpha-Progesterone
17alpha-progesterone
17α-progesterone
1dbb
1h60
257630-50-5
3,20-Pregnene-4
32104FB6-BF81-4F6E-83C2-024DEEAEB272
4-Pregnen-3,20-dione
4-Pregnene-3,20-dione
46665_FLUKA
46665_RIEDEL
57-83-0
753497-20-0
8012-32-6
8023-13-0
AC-700
AC1L1LKF
AI3-51682
Agolutin
Akrolutin
BB_NC-0185
BHR-100
BIDD:ER0547
BIDD:PXR0094
BPBio1_000676
BRD-K64994968-001-03-6
BSPBio_000614
Bio-luton
C00410
CCRIS 533
CHEBI:17026
CHEMBL103
CID5994
CIDR
CMC_13406
COL-1620
CPD000058345
Colprosterone
Corlutin
Corlutina
Corluvite
Corporin
Corpus Luteum Hormone
Corpus luteum hormone
Crinone
Crinone (TN)
Crinone progesterone gel
Curretab
Cyclogest
Cyclogesterin
D00066
D4-Pregnene-3,20-dione
DB00396
DR-2011
Delalutin
Delta(4)-pregnene-3,20-dione
Duraprogen
EINECS 200-350-6
ETI-411
EU-0100895
Endometrin
Estima
FE-999913
Flavolutan
Fologenon
Gelbkoerperhormon
Gesterol
Gesterol 100
Gesterol 50
Gestiron
Gestone
Gestormone
Gestron
Glanducorpin
Gynlutin
Gynoluton
Gynolutone
HMS1569O16
HMS2051O05
HMS2090J07
HSDB 3389
Hormoflaveine
Hormoluton
Hydroxyprogesterone Caproate
Hydroxyprogesterone Caproic acid
LMST02030159
LS-234
Lingusorbs
Lipo-Lutin
Lipolutin
Lopac0_000895
Lucorteum
Lucorteum Sol
Lucorteum sol
Lugesteron
Luteal hormone
Luteinique
Luteocrin normale
Luteodyn
Luteogan
Luteohormone
Luteol
Luteol (VAN)
Luteopur
Luteosan
Luteostab
Luteovis
Luteum
Lutex
Lutidon
Lutin
Lutinus
Lutociclina
Lutocuclin M
Lutocyclin
Lutocyclin M
 
Lutocyclin m
Lutocylin
Lutocylol
Lutoform
Lutogyl
Lutogynon
Lutren
Lutromone
MLS000028517
MLS000758277
MLS001074187
MLS002222367
MPA
Membrettes
Methylpregnone
Micronized Progesterone
MolPort-001-794-643
NCGC00022185-03
NCGC00022185-04
NCGC00022185-05
NCGC00022185-06
NCGC00022185-07
NCGC00022185-08
NCGC00022185-09
NCGC00090798-01
NCGC00090798-02
NCI60_042166
NSC 64377
NSC 9704
NSC-9704
NSC64377
NSC9704
Nalutron
Natural Progesterone
P 0130
P0130_SIGMA
P0478
P3972_SIGMA
P6149_SIGMA
P7556_ALDRICH
P7556_SIGMA
P8783_SIGMA
P9776_SIGMA
PROGESTERONE
Percutacrine
Percutacrine Luteinique
Piaponon
Pranone
Pregn-4-en-3,20-dione
Pregn-4-ene-3,20-dione
Pregnene-3,20-dione
Pregnenedione
Prestwick0_000477
Prestwick1_000477
Prestwick2_000477
Prestwick3_000477
Prestwick_411
Primolut
Prochieve
Progeffik
Progekan
Progestan
Progestasert
Progesterol
Progesteron
Progesterona
Progesterona [INN-Spanish]
Progesterone
Progesterone (JP15/USP/INN)
Progesterone [INN:BAN:JAN]
Progesterone [Progestins]
Progesterone, water-soluble
Progesterone-Water Soluble
Progesterone: HBC complex
Progesteronum
Progesteronum [INN-Latin]
Progestin
Progestogel
Progestol
Progeston
Progestone
Progestosol
Progestrel
Progestron
Progestronol
Progestérone
Projestaject
Prolets
Prolidon
Prolutin
Proluton
Prolutone
Prometrium
Prometrium (TN)
Prontogest
Protormone
S00293
S1705_Selleck
SAM001247039
SMR000058345
SMR000653542
SPBio_002553
SR-01000000088
SR-01000000088-5
Spectrum5_002053
Syngesterone
Syngestrets
Synovex S
Syntolutan
U 3672
UNII-4G7DS2Q64Y
Utrogest
Utrogestan
Vitarrine
WLN: L E5 B666 OV MUTJ A1 E1 FV1
ZINC04428529
beta-Progesterone
bmse000482
component of Cyclogesterin
corpus luteum hormone
delta(4)-Pregnene-3,20-dione
delta(Sup 4)-Pregnene-3,20-dione
delta(Sup4)-pregnene-3,20-dione
delta(sup 4)-Pregnene-3,20-dione
delta4-Pregnene-3,20-dione
luteohormone
nchembio.2007.53-comp14
2ProgestinsPhase 3525
3
DiazoxidePhase 2, Phase 322364-98-73019
Synonyms:
2H-1,2, 4-Benzothiadiazine, 7-chloro-3-methyl-, 1,1-dioxide
2H-1,2,4-Benzothiadiazine, 7-chloro-3-methyl-, 1,1-dioxide
364-98-7
7-Chloro-3-methyl-1lambda~4~,2,4-benzothiadiazin-1-ol 1-oxide
7-Chloro-3-methyl-2H-1,2,4-benzothiadiazine 1,1-dioxide
7-Cloro-3-metil-2H-1,2,4-benzotiodiazina-1,1-diossido
7-Cloro-3-metil-2H-1,2,4-benzotiodiazina-1,1-diossido [Italian]
7-chloro-3-methyl-4H-1
AC1L1EZN
Aroglycem
BPBio1_000016
BRD-K73109821-001-05-2
BSPBio_000014
BSPBio_001307
BSPBio_002290
Bio1_000036
Bio1_000525
Bio1_001014
Bio2_000027
Bio2_000507
C06949
C8H7ClN2O2S
CAS-364-98-7
CBiol_001750
CHEBI:4495
CHEMBL181
CID3019
CPD000058392
D 9035
D00294
D003981
D9035_SIGMA
DB01119
Diazossido
Diazossido [DCIT]
Diazossido [Italian]
Diazoxide
Diazoxide (JAN/USP/INN)
Diazoxide [USAN:INN:BAN]
Diazoxido
Diazoxido [INN-Spanish]
Diazoxidum
Diazoxidum [INN-Latin]
Dizoxide
EINECS 206-668-1
EU-0100404
Eudemine
HMS1361B09
HMS1568A16
HMS1791B09
HMS1922L22
HMS1989B09
HMS2051P20
HMS2089L04
HMS2093N12
Hyperstat
Hyperstat (TN)
Hypertonalum
I06-2041
 
IDI1_033777
KBio2_000027
KBio2_002595
KBio2_005163
KBio3_000053
KBio3_000054
KBio3_001510
KBioGR_000027
KBioGR_001776
KBioSS_000027
LS-40410
Lopac-D-9035
Lopac0_000404
MLS000028459
MLS001076071
MolPort-003-666-772
MolPort-003-941-186
Mutabase
NCGC00015380-01
NCGC00015380-02
NCGC00015380-03
NCGC00015380-05
NCGC00015380-12
NCGC00024907-01
NCGC00024907-02
NCGC00024907-03
NCGC00024907-04
NCGC00024907-05
NCGC00024907-06
NCGC00024907-07
NCGC00024907-08
NSC 64198
NSC 76130
NSC-64198
NSC64198
NSC76130
Prestwick0_000087
Prestwick1_000087
Prestwick2_000087
Prestwick3_000087
Prestwick_163
Proglicem
Proglycem
SAM001246872
SMR000058392
SPBio_001953
SPECTRUM2300206
SRG 95213
SRG-95213
Sch 6783
Sch-6783
Spectrum3_000735
Spectrum4_001248
Tocris-0964
UNII-O5CB12L4FN
VU0239714-6
ZINC03872277
diazoxide
nchembio.150-comp49
nchembio.476-comp10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS)CompletedNCT00099164Phase 3
2Diazoxide In the Management Of Hypoglycemic NeonatesNot yet recruitingNCT00994149Phase 2, Phase 3
3Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
4Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

Search NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 3

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 3

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Genetic tests related to Diabetes Mellitus, Transient Neonatal, 3:

id Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 325

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 3

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Animal Models for Diabetes Mellitus, Transient Neonatal, 3 or affiliated genes

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Publications for Diabetes Mellitus, Transient Neonatal, 3

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Variations for Diabetes Mellitus, Transient Neonatal, 3

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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

68
id Symbol AA change Variation ID SNP ID
1KCNJ11p.Gly53ArgVAR_026502
2KCNJ11p.Gly53SerVAR_026503
3KCNJ11p.Ile182ValVAR_026510
4KCNJ11p.Cys42ArgVAR_031331

Clinvar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
2KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)single nucleotide variantPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
3KCNJ11NM_000525.3(KCNJ11): c.157G> A (p.Gly53Ser)single nucleotide variantPathogenicrs80356613GRCh37Chr 11, 17409482: 17409482
4KCNJ11NM_000525.3(KCNJ11): c.157G> C (p.Gly53Arg)single nucleotide variantPathogenicrs80356613GRCh37Chr 11, 17409482: 17409482

Expression for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 3.

Pathways for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Pathways related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ABCC8, KCNJ11
2
Show member pathways
9.1ABCC8, KCNJ11
3
Show member pathways
9.1ABCC8, KCNJ11
4
Show member pathways
9.1ABCC8, KCNJ11
5
Show member pathways
9.1ABCC8, KCNJ11
6
Show member pathways
9.1ABCC8, KCNJ11
79.1ABCC8, KCNJ11
89.1ABCC8, KCNJ11
99.1ABCC8, KCNJ11
10
Show member pathways
9.1ABCC8, KCNJ11
11
Show member pathways
9.1ABCC8, KCNJ11

GO Terms for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Cellular components related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.1ABCC8, KCNJ11
2sarcolemmaGO:00423839.0ABCC8, KCNJ11

Biological processes related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:00068139.6ABCC8, KCNJ11
2potassium ion transmembrane transportGO:00718059.6ABCC8, KCNJ11
3regulation of insulin secretionGO:00507969.5ABCC8, KCNJ11
4transmembrane transportGO:00550859.3ABCC8, KCNJ11
5response to drugGO:00424939.1ABCC8, KCNJ11
6negative regulation of insulin secretionGO:00466768.8ABCC8, KCNJ11

Molecular functions related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-activated inward rectifier potassium channel activityGO:00152729.6ABCC8, KCNJ11
2ion channel bindingGO:00443259.1ABCC8, KCNJ11

Sources for Diabetes Mellitus, Transient Neonatal, 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet