MCID: PNC105
MIFTS: 18

Pancreatic Agenesis 2

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

Aliases & Classifications for Pancreatic Agenesis 2

MalaCards integrated aliases for Pancreatic Agenesis 2:

Name: Pancreatic Agenesis 2 57 75 29 73
Pagen2 57 75
Pancreatic Hypoplasia, Congenital 2 57
Congenital Pancreatic Hypoplasia 2 75
Agenesis, Pancreatic, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pancreatic agenesis 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615935
UMLS 73 C4014737

Summaries for Pancreatic Agenesis 2

UniProtKB/Swiss-Prot : 75 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 small for gestational age and steatorrhea

Description from OMIM: 615935

Related Diseases for Pancreatic Agenesis 2

Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 1 Pancreatic Agenesis 2

Symptoms & Phenotypes for Pancreatic Agenesis 2

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
low birth weight

Abdomen Pancreas:
pancreatic hypoplasia or agenesis

Abdomen Liver:
cholestatic liver failure (rare)

Endocrine Features:
neonatal diabetes mellitus (in most patients)
pancreatic exocrine insufficiency
pancreatic hypoplasia or agenesis
stool elastase low or undetectable
steatorrhea


Clinical features from OMIM:

615935

Human phenotypes related to Pancreatic Agenesis 2:

32
# Description HPO Frequency HPO Source Accession
1 small for gestational age 32 HP:0001518
2 steatorrhea 32 HP:0002570

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:

41
Pancreas, Liver

Publications for Pancreatic Agenesis 2

Variations for Pancreatic Agenesis 2

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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