TNDM1
MCID: DBT064
MIFTS: 45

Diabetes Mellitus, Transient Neonatal, 1 (TNDM1) malady

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

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 1

Aliases & Descriptions for Diabetes Mellitus, Transient Neonatal, 1:

Name: Diabetes Mellitus, Transient Neonatal, 1 54 13 69
Transient Neonatal Diabetes Mellitus 12 50 56 29 14 69
Transient Neonatal Diabetes Mellitus 1 66 29
Diabetes Mellitus, Transient Neonatal 54 50
Tndm1 50 66
Tndm 50 56
Chromosome 6-Associated Transient Diabetes Mellitus 50
Diabetes Mellitus, 6q24-Related Transient Neonatal 50
Dmtn 50

Characteristics:

Orphanet epidemiological data:

56
transient neonatal diabetes mellitus
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 601410
Disease Ontology 12 DOID:0060334
ICD10 33 P70.2
Orphanet 56 ORPHA99886
ICD10 via Orphanet 34 P70.2
MedGen 40 C1832386

Summaries for Diabetes Mellitus, Transient Neonatal, 1

OMIM : 54 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare... (601410) more...

MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 1, also known as transient neonatal diabetes mellitus, is related to diabetes mellitus, transient neonatal 2 and diabetes mellitus, transient neonatal, 3, and has symptoms including intellectual disability, muscular hypotonia and failure to thrive. An important gene associated with Diabetes Mellitus, Transient Neonatal, 1 is ZFP57 (ZFP57 Zinc Finger Protein), and among its related pathways/superpathways are Type II diabetes mellitus and FOXA2 and FOXA3 transcription factor networks. The drugs Misoprostol and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include heart and pancreatic islet, and related phenotype is Increased shRNA abundance (Z-score > 2).

Disease Ontology : 12 A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.

NIH Rare Diseases : 50 transient neonatal diabetes mellitus (tndb) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. these cases are referred to as 6q24-related tndb; most (but not all) of these cases are not inherited. other genetic causes include mutations in the kcnj11 and abcc8 genes, which usually cause permanent neonatal diabetes. treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin. last updated: 8/28/2012

UniProtKB/Swiss-Prot : 66 Transient neonatal diabetes mellitus 1: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. 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.

Wikipedia : 71 Transient neonatal diabetes mellitus (TNDM) is a form of diabetes mellitus presenting at birth that is... more...

Related Diseases for Diabetes Mellitus, Transient Neonatal, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
id Related Disease Score Top Affiliating Genes
1 diabetes mellitus, transient neonatal 2 12.2
2 diabetes mellitus, transient neonatal, 3 12.2
3 abcc8-related transient neonatal diabetes mellitus 2 12.1
4 neonatal diabetes mellitus 11.2
5 diabetes mellitus, 6q24-related transient neonatal 11.2
6 prostate cancer 11.2
7 malaria 11.1
8 hypotrichosis 11.1
9 hereditary spherocytosis 11.0
10 paternal uniparental disomy of chromosome 6 11.0
11 macroglossia 11.0
12 x small rings 10.3 HYMAI PLAGL1
13 nosophobia 10.3 ABCC8 KCNJ11
14 noonan syndrome 3 10.3 ABCC8 KCNJ11
15 exosc3-related pontocerebellar hypoplasia 10.2 HYMAI PLAGL1 ZFP57
16 ritscher-schinzel syndrome 2 10.2 ABCC8 KCNJ11
17 labyrinthine unilateral reactive loss 10.2 ABCC8 INS KCNJ11
18 mosaic trisomy 13 10.2 ABCC8 INS KCNJ11
19 autoimmune disease 1 10.2 ABCC8 INS KCNJ11
20 non-syndromic intellectual disability 10.2 ABCC8 INS KCNJ11
21 maturity-onset diabetes of the young, type 13 10.2 ABCC8 INS KCNJ11
22 diabetic cataract 10.2 ABCC8 INS KCNJ11
23 hemorrhagic fever 10.2 ABCC8 KCNJ11
24 focal segmental glomerulosclerosis 8 10.2 ABCC8 INS KCNJ11
25 neurogenic arthropathy 10.2 ABCC8 INS KCNJ11
26 alopecia-mental retardation syndrome 2 10.2 ABCC8 INS
27 chondroma 10.2 ABCC8 INS KCNJ11
28 exostosis 10.1 ABCC8 INS KCNJ11
29 peroneal neuropathy 10.1 ABCC8 INS KCNJ11
30 body dysmorphic disorder 10.1 ABCC8 INS KCNJ11
31 shoulder and girdle defects-familial intellectual disability syndrome 10.1 KHDC3L NLRP7
32 trypanosomiasis, human east-african 10.1 KHDC3L NLRP7
33 brain stem glioma 10.1 ABCC8 INS KCNJ11
34 epileptic encephalopathy, early infantile, 8 10.1 KCNQ1OT1 MEST
35 congenital stationary night blindness 10.1 ABCC8 INS KCNJ11
36 neuroblastoma 10.0
37 toxic encephalopathy 10.0 KHDC3L NLRP2 NLRP7
38 ceroid lipofuscinosis, neuronal, 13, kufs type 10.0 GRB10 KCNQ1OT1
39 fanconi renotubular syndrome 2 10.0 ABCC8 KCNQ1OT1 NLRP2 PLAGL1 ZFP57
40 tick infestation 10.0 KHDC3L NLRP2 NLRP7
41 distal muscular dystrophy 9.9 ABCC8 HYMAI INS KCNJ11 PLAGL1 ZFP57
42 microcephaly, seizures, and developmental delay 9.9 KHDC3L NLRP7
43 argininosuccinic aciduria 9.9 GRB10 KCNQ1OT1 MEST ZFP57
44 deafness, autosomal recessive 66 8.0 ABCC8 DNMT3L FKBP6 GNAS-AS1 GRB10 HYMAI

Graphical network of the top 20 diseases related to Diabetes Mellitus, Transient Neonatal, 1:



Diseases related to Diabetes Mellitus, Transient Neonatal, 1

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 1

Symptoms by clinical synopsis from OMIM:

601410

Clinical features from OMIM:

601410

Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 1:

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 56 32 Frequent (79-30%) HP:0001249
2 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
3 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
4 hearing impairment 56 32 Occasional (29-5%) HP:0000365
5 global developmental delay 56 32 Frequent (79-30%) HP:0001263
6 renal tubular dysfunction 56 32 Occasional (29-5%) HP:0000124
7 dehydration 56 32 Very frequent (99-80%) HP:0001944
8 weight loss 56 32 Very frequent (99-80%) HP:0001824
9 generalized myoclonic seizures 56 32 Occasional (29-5%) HP:0002123
10 generalized tonic-clonic seizures 56 32 Occasional (29-5%) HP:0002069
11 arthrogryposis multiplex congenita 56 32 Frequent (79-30%) HP:0002804
12 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
13 apraxia 56 32 Occasional (29-5%) HP:0002186
14 downturned corners of mouth 56 32 Frequent (79-30%) HP:0002714
15 coma 56 32 Occasional (29-5%) HP:0001259
16 motor delay 56 32 Frequent (79-30%) HP:0001270
17 prominent metopic ridge 56 32 Frequent (79-30%) HP:0005487
18 hypovolemia 56 32 Very frequent (99-80%) HP:0011106
19 glycosuria 56 32 Very frequent (99-80%) HP:0003076
20 steatorrhea 56 32 Occasional (29-5%) HP:0002570
21 abnormal heart morphology 56 32 Occasional (29-5%) HP:0001627
22 hyperglycemia 56 32 Very frequent (99-80%) HP:0003074
23 ketonuria 56 32 Frequent (79-30%) HP:0002919
24 transient neonatal diabetes mellitus 56 32 Very frequent (99-80%) HP:0008255
25 bilateral ptosis 56 32 Frequent (79-30%) HP:0001488
26 abnormality of the pancreatic islet cells 56 32 Very frequent (99-80%) HP:0006476
27 contractures of the joints of the lower limbs 56 32 Frequent (79-30%) HP:0005750
28 seizures 56 Occasional (29-5%)
29 neurodevelopmental delay 56 Frequent (79-30%)
30 abnormality of the upper urinary tract 56 Occasional (29-5%)
31 severe failure to thrive 32 HP:0001525
32 autoimmune antibody positivity 56 Excluded (0%)

GenomeRNAi Phenotypes related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.66 UROD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.66 KCNJ11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.66 KCNJ11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.66 KCNJ11 MEST UROD
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.66 MEST
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.66 KCNJ11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 MEST
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.66 MEST
9 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.66 UROD
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 KCNJ11
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.66 MEST
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 MEST
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.66 MEST
14 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.66 UROD
15 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.66 UROD
16 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.66 KCNJ11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.66 KCNJ11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.66 UROD
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 UROD
20 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.66 MEST

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 1

Drugs for Diabetes Mellitus, Transient Neonatal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Misoprostol Approved Phase 4 59122-46-2 5282381
2 Gastrointestinal Agents Phase 4
3 Oxytocics Phase 4
4 Antacids Phase 4
5 Anti-Ulcer Agents Phase 4
6
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
7
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
8 Vasodilator Agents Phase 2, Phase 3
9 Hypoglycemic Agents Phase 2, Phase 3
10 Antihypertensive Agents Phase 2, Phase 3
11 Progestins Phase 3
12 Hormone Antagonists Phase 3
13 Hormones Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
15 Estrogen Antagonists Phase 3
16 Estrogens Phase 3
17 11-hydroxyprogesterone Phase 3
18 17-alpha-hydroxy-progesterone caproate Phase 3
19 Caproate Nutraceutical Phase 3
20
Oxytocin Approved, Vet_approved 50-56-6 439302 53477758
21
Dinoprostone Approved 363-24-6 5280360
22
Benzocaine Approved 1994-09-7, 94-09-7 2337
23 tannic acid Approved, Nutraceutical
24 Neuroserpin
25 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cervical Ripening for Obese Women: A Randomized, Comparative Effectiveness Trial Recruiting NCT02639429 Phase 4
2 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3
3 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3
4 Genetic Disease Gene Identification Unknown status NCT00916903
5 Gestational Diabetes: Induction Versus Expectant Management of Labour Completed NCT01058772
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Motivational Interviewing With Focus on Diet and Weight Gain in Pregnant Women With Type 2 Diabetes Recruiting NCT02883127

Search NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 1

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 1

Genetic tests related to Diabetes Mellitus, Transient Neonatal, 1:

id Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 1 29
2 Transient Neonatal Diabetes Mellitus 29

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 1

MalaCards organs/tissues related to Diabetes Mellitus, Transient Neonatal, 1:

39
Heart, Pancreatic Islet

Publications for Diabetes Mellitus, Transient Neonatal, 1

Variations for Diabetes Mellitus, Transient Neonatal, 1

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

66
id Symbol AA change Variation ID SNP ID
1 ZFP57 p.Arg166His VAR_054771 rs199589695
2 ZFP57 p.His193Asn VAR_054772 rs78378398
3 ZFP57 p.His374Asp VAR_054773 rs79020217

ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ZFP57 NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter) single nucleotide variant Pathogenic rs61730328 GRCh37 Chromosome 6, 29641105: 29641105
2 ZFP57 NM_001109809.2(ZFP57): c.317_318delAG (p.Glu106Valfs) deletion Pathogenic rs606231121 GRCh38 Chromosome 6, 29675420: 29675421
3 ZFP57 NM_001109809.2(ZFP57): c.1383delC (p.Tyr462Ilefs) deletion Pathogenic rs606231122 GRCh38 Chromosome 6, 29672728: 29672728
4 ZFP57 NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp) single nucleotide variant Pathogenic rs79020217 GRCh37 Chromosome 6, 29640516: 29640516
5 ZFP57 NM_001109809.2(ZFP57): c.743G> A (p.Arg248His) single nucleotide variant Pathogenic rs77625743 GRCh37 Chromosome 6, 29641145: 29641145
6 ZFP57 NM_001109809.2(ZFP57): c.829C> A (p.His277Asn) single nucleotide variant Pathogenic rs78378398 GRCh37 Chromosome 6, 29641059: 29641059
7 ZFP57 NM_001109809.2(ZFP57): c.898_905delACCCAGGC (p.Thr300Terfs) deletion Pathogenic rs606231123 GRCh37 Chromosome 6, 29640983: 29640990

Expression for Diabetes Mellitus, Transient Neonatal, 1

Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 1.

Pathways for Diabetes Mellitus, Transient Neonatal, 1

Pathways related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 ABCC8 INS KCNJ11
2 10.44 ABCC8 INS KCNJ11

GO Terms for Diabetes Mellitus, Transient Neonatal, 1

Cellular components related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC8 KCNJ11

Biological processes related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of insulin secretion GO:0046676 9.16 ABCC8 KCNJ11
2 DNA methylation involved in gamete generation GO:0043046 8.96 DNMT3L FKBP6
3 regulation of gene expression by genetic imprinting GO:0006349 8.62 DNMT3L ZFP57

Molecular functions related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 8.96 GRB10 INS
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Diabetes Mellitus, Transient Neonatal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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