MCID: PNC104
MIFTS: 18

Pancreatic and Cerebellar Agenesis malady

Genetic diseases (common), Endocrine diseases categories

Aliases & Classifications for Pancreatic and Cerebellar Agenesis

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Pancreatic and Cerebellar Agenesis, Aliases & Descriptions:

Name: Pancreatic and Cerebellar Agenesis 45
 
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 10 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Endocrine diseases


External Ids:

OMIM45 609069

Summaries for Pancreatic and Cerebellar Agenesis

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MalaCards based summary: Pancreatic and Cerebellar Agenesis, also known as diabetes mellitus, permanent neonatal, with cerebellar agenesis, is related to permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis and pancreatitis, and has symptoms including pectus carinatum, secundum atrial septal defect and overlapping fingers. An important gene associated with Pancreatic and Cerebellar Agenesis is PTF1A (pancreas specific transcription factor, 1a).

Description from OMIM:45 609069

Related Diseases for Pancreatic and Cerebellar Agenesis

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Diseases related to Pancreatic and Cerebellar Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis10.5
2pancreatitis10.2
3cerebellar agenesis10.2

Symptoms for Pancreatic and Cerebellar Agenesis

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Symptoms by clinical synopsis from OMIM:

609069

Clinical features from OMIM:

609069

HPO human phenotypes related to Pancreatic and Cerebellar Agenesis:

(show all 14)
id Description Frequency HPO Source Accession
1 pectus carinatum rare (5%) HP:0000768
2 secundum atrial septal defect rare (5%) HP:0001684
3 overlapping fingers rare (5%) HP:0010557
4 microcephaly HP:0000252
5 triangular face HP:0000325
6 short chin HP:0000331
7 low-set ears HP:0000369
8 abnormality of the pinna HP:0000377
9 convex nasal ridge HP:0000444
10 optic nerve hypoplasia HP:0000609
11 decreased subcutaneous fat HP:0001002
12 seizures HP:0001250
13 joint stiffness HP:0001387
14 failure to thrive HP:0001508

Drugs & Therapeutics for Pancreatic and Cerebellar Agenesis

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Drug clinical trials:

Search ClinicalTrials for Pancreatic and Cerebellar Agenesis

Search NIH Clinical Center for Pancreatic and Cerebellar Agenesis

Genetic Tests for Pancreatic and Cerebellar Agenesis

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Genetic tests related to Pancreatic and Cerebellar Agenesis:

id Genetic test Affiliating Genes
1 Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis20 22 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

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Animal Models for Pancreatic and Cerebellar Agenesis or affiliated genes

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Publications for Pancreatic and Cerebellar Agenesis

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Articles related to Pancreatic and Cerebellar Agenesis:

idTitleAuthorsYear
1
Mutations in PTF1A cause pancreatic and cerebellar agenesis. (15543146)
2004

Variations for Pancreatic and Cerebellar Agenesis

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Clinvar genetic disease variations for Pancreatic and Cerebellar Agenesis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PTF1APTF1A, 24-BP DEL, NT437deletionPathogenic
2PTF1ANM_178161.2(PTF1A): c.886C> T (p.Arg296Ter)single nucleotide variantPathogenicrs104894186GRCh37Chr 10, 23482734: 23482734
3PTF1APTF1A, 1-BP INS, 705GinsertionPathogenic

Expression for genes affiliated with Pancreatic and Cerebellar Agenesis

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Search GEO for disease gene expression data for Pancreatic and Cerebellar Agenesis.

Pathways for genes affiliated with Pancreatic and Cerebellar Agenesis

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Compounds for genes affiliated with Pancreatic and Cerebellar Agenesis

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GO Terms for genes affiliated with Pancreatic and Cerebellar Agenesis

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Products for genes affiliated with Pancreatic and Cerebellar Agenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pancreatic and Cerebellar Agenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet