PAGEN2
MCID: PNC105
MIFTS: 18

Pancreatic Agenesis 2 (PAGEN2)

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

Aliases & Classifications for Pancreatic Agenesis 2

MalaCards integrated aliases for Pancreatic Agenesis 2:

Name: Pancreatic Agenesis 2 57 72 29 6 70
Pagen2 57 72
Pancreatic Hypoplasia, Congenital 2 57
Congenital Pancreatic Hypoplasia 2 72
Agenesis, Pancreatic, Type 2 39

Characteristics:

OMIM®:

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


HPO:

31
pancreatic agenesis 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615935
OMIM Phenotypic Series 57 PS260370
UMLS 70 C4014737

Summaries for Pancreatic Agenesis 2

UniProtKB/Swiss-Prot : 72 Pancreatic agenesis 2: A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency.

MalaCards based summary : Pancreatic Agenesis 2, is also known as pagen2. An important gene associated with Pancreatic Agenesis 2 is PTF1A (Pancreas Associated Transcription Factor 1a). Affiliated tissues include pancreas and liver, and related phenotypes are steatorrhea and small for gestational age

More information from OMIM: 615935 PS260370

Related Diseases for Pancreatic Agenesis 2

Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 1 Pancreatic Agenesis 2

Symptoms & Phenotypes for Pancreatic Agenesis 2

Human phenotypes related to Pancreatic Agenesis 2:

31
# Description HPO Frequency HPO Source Accession
1 steatorrhea 31 HP:0002570
2 small for gestational age 31 HP:0001518
3 pancreatic hypoplasia 31 HP:0002594

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
steatorrhea
pancreatic hypoplasia or agenesis
neonatal diabetes mellitus (in most patients)
pancreatic exocrine insufficiency
stool elastase low or undetectable

Abdomen Pancreas:
pancreatic hypoplasia or agenesis

Growth Weight:
low birth weight

Abdomen Liver:
cholestatic liver failure (rare)

Clinical features from OMIM®:

615935 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pancreatic Agenesis 2

Search Clinical Trials , NIH Clinical Center for Pancreatic Agenesis 2

Genetic Tests for Pancreatic Agenesis 2

Genetic tests related to Pancreatic Agenesis 2:

# Genetic test Affiliating Genes
1 Pancreatic Agenesis 2 29 PTF1A

Anatomical Context for Pancreatic Agenesis 2

MalaCards organs/tissues related to Pancreatic Agenesis 2:

40
Pancreas, Liver

Publications for Pancreatic Agenesis 2

Articles related to Pancreatic Agenesis 2:

# Title Authors PMID Year
1
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. 57
24212882 2014

Variations for Pancreatic Agenesis 2

ClinVar genetic disease variations for Pancreatic Agenesis 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTF1A NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) SNV Pathogenic 800794 rs1588563037 GRCh37: 10:23482030-23482030
GRCh38: 10:23193101-23193101
2 PTF1A NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) SNV Uncertain significance 130054 rs535090775 GRCh37: 10:23481728-23481728
GRCh38: 10:23192799-23192799

Expression for Pancreatic Agenesis 2

Search GEO for disease gene expression data for Pancreatic Agenesis 2.

Pathways for Pancreatic Agenesis 2

GO Terms for Pancreatic Agenesis 2

Sources for Pancreatic Agenesis 2

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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