MCID: PNC104
MIFTS: 25

Pancreatic and Cerebellar Agenesis malady

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

Aliases & Classifications for Pancreatic and Cerebellar Agenesis

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Aliases & Descriptions for Pancreatic and Cerebellar Agenesis:

Name: Pancreatic and Cerebellar Agenesis 50 52 68
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 23 12
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 68 25
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 52
 
Neonatal Diabetes Mellitus, Permanent, with Cerebellar Agenesis 23
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 68
Paca 68

Characteristics:

Orphanet epidemiological data:

52
pancreatic and cerebellar agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM50 609069
Orphanet52 ORPHA65288
MedGen35 C1836780
MeSH37 D003920

Summaries for Pancreatic and Cerebellar Agenesis

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UniProtKB/Swiss-Prot:68 Pancreatic and cerebellar agenesis: A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features.

MalaCards based summary: Pancreatic and Cerebellar Agenesis, also known as diabetes mellitus, permanent neonatal, with cerebellar agenesis, is related to cerebellar hypoplasia and neonatal diabetes mellitus, and has symptoms including triangular face, micrognathia and low-set, posteriorly rotated ears. An important gene associated with Pancreatic and Cerebellar Agenesis is PTF1A (Pancreas Specific Transcription Factor, 1a). Affiliated tissues include pancreas.

Description from OMIM:50 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
1cerebellar hypoplasia10.1
2neonatal diabetes mellitus10.1
3polycystic echinococcosis10.0
4echinococcosis10.0
5pancreatitis9.9
6cerebellar agenesis9.9

Graphical network of diseases related to Pancreatic and Cerebellar Agenesis:



Diseases related to pancreatic and cerebellar agenesis

Symptoms for Pancreatic and Cerebellar Agenesis

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Symptoms by clinical synopsis from OMIM:

609069

Clinical features from OMIM:

609069

Symptoms:

 52 (show all 7)
  • triangular face
  • short chin
  • low-set ears
  • optic nerve hypoplasia
  • neonatal insulin-dependent diabetes mellitus
  • cerebellar hypoplasia
  • aplasia/hypoplasia of the pancreas

HPO human phenotypes related to Pancreatic and Cerebellar Agenesis:

(show all 21)
id Description Frequency HPO Source Accession
1 triangular face hallmark (90%) HP:0000325
2 micrognathia hallmark (90%) HP:0000347
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 optic atrophy hallmark (90%) HP:0000648
5 type ii diabetes mellitus hallmark (90%) HP:0005978
6 abnormality of the pancreas typical (50%) HP:0001732
7 pectus carinatum rare (5%) HP:0000768
8 secundum atrial septal defect rare (5%) HP:0001684
9 overlapping fingers rare (5%) HP:0010557
10 microcephaly HP:0000252
11 triangular face HP:0000325
12 short chin HP:0000331
13 low-set ears HP:0000369
14 abnormality of the pinna HP:0000377
15 convex nasal ridge HP:0000444
16 optic nerve hypoplasia HP:0000609
17 reduced subcutaneous adipose tissue HP:0001002
18 seizures HP:0001250
19 joint stiffness HP:0001387
20 failure to thrive HP:0001508
21 cerebellar agenesis HP:0012642

UMLS symptoms related to Pancreatic and Cerebellar Agenesis:


seizures, joint stiffness

Drugs & Therapeutics for Pancreatic and Cerebellar Agenesis

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Interventional clinical trials:

Search ClinicalTrials, 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 Agenesis25 23 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

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MalaCards organs/tissues related to Pancreatic and Cerebellar Agenesis:

34
Pancreas

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:

5
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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GO Terms for genes affiliated with Pancreatic and Cerebellar Agenesis

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Sources for Pancreatic and Cerebellar Agenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet