MCID: PNC050
MIFTS: 13

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
Neonatal Insulin-Dependent Diabetes Mellitus 29 6
Diabetes Mellitus, Insulin-Dependent, Neonatal 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pancreatic beta cell agenesis with neonatal diabetes mellitus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600089
MedGen 42 C1838655
SNOMED-CT via HPO 69 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 neonatal insulin-dependent diabetes mellitus, 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 Voltage-Gated Channel Subfamily J Member 11). Affiliated tissues include pancreatic islet, and related phenotypes are neonatal insulin-dependent diabetes mellitus and abnormality of abdomen morphology

Description 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 11.3
2 pancreatic agenesis 2 11.3

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

Symptoms via clinical synopsis from OMIM:

57
GI:
congenital absence of pancreatic islet insulin-producing beta cells

Endocrine:
neonatal insulin-dependent diabetes mellitus


Clinical features from OMIM:

600089

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

32
# Description HPO Frequency HPO Source Accession
1 neonatal insulin-dependent diabetes mellitus 32 HP:0000857
2 abnormality of abdomen morphology 32 HP:0001438

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

Genetic tests related to Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus:

# Genetic test Affiliating Genes
1 Neonatal Insulin-Dependent Diabetes Mellitus 29

Anatomical Context for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

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

41
Pancreatic Islet

Publications for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

Variations for Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs80356624 GRCh37 Chromosome 11, 17409037: 17409037
2 KCNJ11 NM_000525.3(KCNJ11): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs80356624 GRCh38 Chromosome 11, 17387490: 17387490
3 KCNJ11 NM_000525.3(KCNJ11): c.175G> A (p.Val59Met) single nucleotide variant Pathogenic rs80356616 GRCh37 Chromosome 11, 17409464: 17409464
4 KCNJ11 NM_000525.3(KCNJ11): c.175G> A (p.Val59Met) single nucleotide variant Pathogenic rs80356616 GRCh38 Chromosome 11, 17387917: 17387917
5 KCNJ11 NM_000525.3(KCNJ11): c.989A> G (p.Tyr330Cys) single nucleotide variant Pathogenic rs193929356 GRCh37 Chromosome 11, 17408650: 17408650
6 KCNJ11 NM_000525.3(KCNJ11): c.989A> G (p.Tyr330Cys) single nucleotide variant Pathogenic rs193929356 GRCh38 Chromosome 11, 17387103: 17387103
7 KCNJ11 NM_000525.3(KCNJ11): c.536A> C (p.Glu179Ala) single nucleotide variant Likely pathogenic rs587783671 GRCh37 Chromosome 11, 17409103: 17409103
8 KCNJ11 NM_000525.3(KCNJ11): c.536A> C (p.Glu179Ala) single nucleotide variant Likely pathogenic rs587783671 GRCh38 Chromosome 11, 17387556: 17387556
9 KCNJ11 NM_000525.3(KCNJ11): c.521C> G (p.Ala174Gly) single nucleotide variant Pathogenic rs587783670 GRCh37 Chromosome 11, 17409118: 17409118
10 KCNJ11 NM_000525.3(KCNJ11): c.521C> G (p.Ala174Gly) single nucleotide variant Pathogenic rs587783670 GRCh38 Chromosome 11, 17387571: 17387571
11 KCNJ11 NM_000525.3(KCNJ11): c.8C> G (p.Ser3Cys) single nucleotide variant Pathogenic rs587783674 GRCh37 Chromosome 11, 17409631: 17409631
12 KCNJ11 NM_000525.3(KCNJ11): c.8C> G (p.Ser3Cys) single nucleotide variant Pathogenic rs587783674 GRCh38 Chromosome 11, 17388084: 17388084

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

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