PNDM3
MCID: DBT106
MIFTS: 24

Diabetes Mellitus, Permanent Neonatal, 3 (PNDM3)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, 3

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal, 3:

Name: Diabetes Mellitus, Permanent Neonatal, 3 57
Permanent Neonatal Diabetes Mellitus 3 29 6
Pndm3 57 72
Diabetes Mellitus, Permanent Neonatal 3, with or Without Neurologic Features 57
Diabetes, Permanent Neonatal 3, with or Without Neurologic Features 72
Developmental Delay, Epilepsy, and Neonatal Diabetes 2 72
Diabetes Mellitus, Permanent Neonatal 3 72
Dend2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
age at diagnosis 1-4 months


HPO:

31
diabetes mellitus, permanent neonatal, 3:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Diabetes Mellitus, Permanent Neonatal, 3

UniProtKB/Swiss-Prot : 72 Diabetes mellitus, permanent neonatal 3: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance.

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal, 3, is also known as permanent neonatal diabetes mellitus 3. An important gene associated with Diabetes Mellitus, Permanent Neonatal, 3 is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Related phenotypes are muscle weakness and type i diabetes mellitus

OMIM® : 57 Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by Babenko et al., 2006). Some patients also have neurologic features, including developmental delay and epilepsy (Proks et al., 2006; Babenko et al., 2006). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND. For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176). (618857) (Updated 05-Apr-2021)

Related Diseases for Diabetes Mellitus, Permanent Neonatal, 3

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal, 3

Human phenotypes related to Diabetes Mellitus, Permanent Neonatal, 3:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 very rare (1%) HP:0001324
2 type i diabetes mellitus 31 very rare (1%) HP:0100651
3 delayed social development 31 very rare (1%) HP:0012434
4 motor delay 31 very rare (1%) HP:0001270
5 athetosis 31 very rare (1%) HP:0002305
6 small for gestational age 31 very rare (1%) HP:0001518
7 generalized hypotonia 31 very rare (1%) HP:0001290
8 ketonuria 31 very rare (1%) HP:0002919
9 hyperglycemia 31 very rare (1%) HP:0003074
10 glycosuria 31 very rare (1%) HP:0003076
11 difficulty standing 31 very rare (1%) HP:0003698
12 interictal epileptiform activity 31 very rare (1%) HP:0011182

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Metabolic Features:
polydipsia

Genitourinary Kidneys:
polyuria

Growth Weight:
low birth weight

Muscle Soft Tissue:
muscle weakness
muscle spasms

Laboratory Abnormalities:
hyperglycemia
ketoacidosis
low fasting c-peptide
decreased glucagon-stimulated c-peptide
negative islet-cell autoantibodies

Neurologic Central Nervous System:
hypotonia
developmental delay
seizure disorder
dyspraxia (in some patients)

Endocrine Features:
neonatal diabetes mellitus

Clinical features from OMIM®:

618857 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal, 3

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal, 3

Genetic Tests for Diabetes Mellitus, Permanent Neonatal, 3

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

# Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus 3 29 ABCC8

Anatomical Context for Diabetes Mellitus, Permanent Neonatal, 3

Publications for Diabetes Mellitus, Permanent Neonatal, 3

Articles related to Diabetes Mellitus, Permanent Neonatal, 3:

(showing 5, show less)
# Title Authors PMID Year
1
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 57 6
17668386 2007
2
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 6 57
16885549 2006
3
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 57 6
16613899 2006
4
Molecular basis of neonatal diabetes in Japanese patients. 57
17635943 2007
5
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 57
17213273 2007

Variations for Diabetes Mellitus, Permanent Neonatal, 3

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal, 3:

6 (showing 9, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCC8 NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) SNV Pathogenic 9102 rs80356637 GRCh37: 11:17491666-17491666
GRCh38: 11:17470119-17470119
2 ABCC8 NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu) SNV Pathogenic 9110 rs267606623 GRCh37: 11:17498190-17498190
GRCh38: 11:17476643-17476643
3 ABCC8 NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) SNV Pathogenic 9103 rs80356642 GRCh37: 11:17483314-17483314
GRCh38: 11:17461767-17461767
4 ABCC8 NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) SNV Pathogenic 9104 rs80356653 GRCh37: 11:17417194-17417194
GRCh38: 11:17395647-17395647
5 ABCC8 NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) SNV Pathogenic 9107 rs80356634 GRCh37: 11:17496508-17496508
GRCh38: 11:17474961-17474961
6 ABCC8 NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) SNV Pathogenic 9108 rs80356651 GRCh37: 11:17474698-17474698
GRCh38: 11:17453151-17453151
7 ABCC8 NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) SNV Pathogenic 9109 rs193929369 GRCh37: 11:17426062-17426062
GRCh38: 11:17404515-17404515
8 ABCC8 NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) SNV Pathogenic 9111 rs193929360 GRCh37: 11:17496466-17496466
GRCh38: 11:17474919-17474919
9 ABCC8 NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) SNV Pathogenic 35616 rs137852676 GRCh37: 11:17417399-17417399
GRCh38: 11:17395852-17395852

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

72 (showing 20, show less)
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Phe132Leu VAR_029778 rs80356637
2 ABCC8 p.Leu213Arg VAR_029779 rs80356642
3 ABCC8 p.Ile1424Val VAR_029787 rs80356653
4 ABCC8 p.Val86Ala VAR_031354 rs193929360
5 ABCC8 p.Gly1400Arg VAR_031380 rs137852676
6 ABCC8 p.Pro45Leu VAR_072928 rs267606623
7 ABCC8 p.Asn72Ser VAR_072929 rs80356634
8 ABCC8 p.Val86Gly VAR_072930 rs193929360
9 ABCC8 p.Phe132Val VAR_072931 rs80356637
10 ABCC8 p.Pro207Ser VAR_072932
11 ABCC8 p.Glu208Lys VAR_072933
12 ABCC8 p.Asp209Glu VAR_072934 rs80356640
13 ABCC8 p.Gln211Lys VAR_072935 rs193929366
14 ABCC8 p.Leu225Pro VAR_072936 rs1048095
15 ABCC8 p.Thr229Ile VAR_072937 rs768017509
16 ABCC8 p.Tyr263Asp VAR_072938 rs778892038
17 ABCC8 p.Glu382Lys VAR_072939 rs80356651
18 ABCC8 p.Ala1184Glu VAR_072944 rs137852675
19 ABCC8 p.Glu1326Lys VAR_072945 rs200563930
20 ABCC8 p.Val1522Leu VAR_072953

Expression for Diabetes Mellitus, Permanent Neonatal, 3

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

Pathways for Diabetes Mellitus, Permanent Neonatal, 3

GO Terms for Diabetes Mellitus, Permanent Neonatal, 3

Sources for Diabetes Mellitus, Permanent Neonatal, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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