MCID: PNC050
MIFTS: 17

Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Categories: Endocrine diseases

Aliases & Classifications for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

MalaCards integrated aliases for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus:

Name: Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 57
Diabetes Mellitus, Insulin-Dependent, Neonatal 57 13
Neonatal Insulin-Dependent Diabetes Mellitus 6

Characteristics:

OMIM®:

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


HPO:

31
pancreatic beta cell agenesis with neonatal diabetes mellitus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 600089
MedGen 41 C1838655
SNOMED-CT via HPO 68 258211005

Summaries for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

MalaCards based summary : Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus, also known as diabetes mellitus, insulin-dependent, neonatal, is related to pancreatic agenesis 1 and pancreatic agenesis 2. An important gene associated with Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11). Affiliated tissues include pancreatic islet, and related phenotypes are neonatal insulin-dependent diabetes mellitus and abnormal abdomen morphology

More information from OMIM: 600089

Related Diseases for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Diseases related to Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pancreatic agenesis 1 11.4
2 pancreatic agenesis 2 11.4
3 type 1 diabetes mellitus 10.3
4 neonatal diabetes 10.1

Symptoms & Phenotypes for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Human phenotypes related to Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus:

31
# Description HPO Frequency HPO Source Accession
1 neonatal insulin-dependent diabetes mellitus 31 HP:0000857
2 abnormal abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine:
neonatal insulin-dependent diabetes mellitus

G I:
congenital absence of pancreatic islet insulin-producing beta cells

Clinical features from OMIM®:

600089 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Search Clinical Trials , NIH Clinical Center for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Genetic Tests for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Anatomical Context for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

MalaCards organs/tissues related to Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus:

40
Pancreatic Islet

Publications for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Articles related to Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus:

# Title Authors PMID Year
1
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. 57
7913714 1994
2
Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia. 57
8097481 1993
3
Escape from self-tolerance leads to neonatal insulin-dependent diabetes mellitus. 61
10524496 1999
4
Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. 61
8597835 1995
5
Nonislet pancreatic autoantibodies in sibship with permanent neonatal insulin-dependent diabetes mellitus. 61
2453387 1988

Variations for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys) SNV Pathogenic 21204 rs193929356 GRCh37: 11:17408650-17408650
GRCh38: 11:17387103-17387103
2 KCNJ11 NM_000525.3(KCNJ11):c.8C>G (p.Ser3Cys) SNV Pathogenic 158687 rs587783674 GRCh37: 11:17409631-17409631
GRCh38: 11:17388084-17388084
3 KCNJ11 NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) SNV Pathogenic 8666 rs80356624 GRCh37: 11:17409037-17409037
GRCh38: 11:17387490-17387490
4 KCNJ11 NM_000525.3(KCNJ11):c.521C>G (p.Ala174Gly) SNV Pathogenic 158677 rs587783670 GRCh37: 11:17409118-17409118
GRCh38: 11:17387571-17387571
5 KCNJ11 NM_000525.3(KCNJ11):c.175G>A (p.Val59Met) SNV Pathogenic 8667 rs80356616 GRCh37: 11:17409464-17409464
GRCh38: 11:17387917-17387917
6 KCNJ11 NM_000525.3(KCNJ11):c.536A>C (p.Glu179Ala) SNV Likely pathogenic 158678 rs587783671 GRCh37: 11:17409103-17409103
GRCh38: 11:17387556-17387556

Expression for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Search GEO for disease gene expression data for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus.

Pathways for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

GO Terms for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Sources for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

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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