MCID: PNC104
MIFTS: 24

Pancreatic and Cerebellar Agenesis malady

Categories: Genetic diseases (common), Endocrine diseases

Aliases & Classifications for Pancreatic and Cerebellar Agenesis

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Aliases & Descriptions for Pancreatic and Cerebellar Agenesis:

Name: Pancreatic and Cerebellar Agenesis 49 67 65
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 11 22
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 67 24
 
Neonatal Diabetes Mellitus, Permanent, with Cerebellar Agenesis 22
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 67
Paca 67

Classifications:



External Ids:

OMIM49 609069
MedGen34 C1836780
MeSH36 D003920
UMLS65 C1836780

Summaries for Pancreatic and Cerebellar Agenesis

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UniProtKB/Swiss-Prot:67 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 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome and hyperglycemia, 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:49 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 agenesis syndrome12.6
2hyperglycemia10.4
3epidermolysis bullosa10.4
4herpes simplex10.4
5congenital herpes simplex10.4
6breast cancer10.1
7familial breast cancer10.1

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

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 decreased subcutaneous fat HP:0001002
18 seizures HP:0001250
19 joint stiffness HP:0001387
20 failure to thrive HP:0001508
21 cerebellar agenesis HP:0012642

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 Agenesis22 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

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MalaCards organs/tissues related to Pancreatic and Cerebellar Agenesis:

33
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
Subthalamic glutamic acid decarboxylase gene therapy: changes in motor function and cortical metabolism. (16835631)
2007

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet