MCID: PNC104
MIFTS: 24

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 52 54 70 68
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 24 12
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 70 27
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 54
 
Neonatal Diabetes Mellitus, Permanent, with Cerebellar Agenesis 24
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 70
Paca 70

Characteristics:

Orphanet epidemiological data:

54
pancreatic and cerebellar agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM52 609069
Orphanet54 ORPHA65288
MedGen37 C1836780
MeSH39 D003920

Summaries for Pancreatic and Cerebellar Agenesis

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UniProtKB/Swiss-Prot:70 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:52 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 hypoplasia10.0
2neonatal diabetes mellitus10.0
3polycystic echinococcosis9.8
4echinococcosis9.8
5pancreatitis9.7
6cerebellar agenesis9.7

Graphical network of diseases related to Pancreatic and Cerebellar Agenesis:



Diseases related to pancreatic and cerebellar agenesis

Symptoms & Phenotypes for Pancreatic and Cerebellar Agenesis

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Symptoms by clinical synopsis from OMIM:

609069

Clinical features from OMIM:

609069

Human phenotypes related to Pancreatic and Cerebellar Agenesis:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 triangular face64 54 hallmark (90%) Very frequent (99-80%) HP:0000325
2 micrognathia64 hallmark (90%) HP:0000347
3 low-set, posteriorly rotated ears64 hallmark (90%) HP:0000368
4 optic atrophy64 hallmark (90%) HP:0000648
5 type ii diabetes mellitus64 hallmark (90%) HP:0005978
6 abnormality of the pancreas64 typical (50%) HP:0001732
7 pectus carinatum64 rare (5%) HP:0000768
8 secundum atrial septal defect64 rare (5%) HP:0001684
9 overlapping fingers64 rare (5%) HP:0010557
10 microcephaly64 HP:0000252
11 short chin64 54 Very frequent (99-80%) HP:0000331
12 low-set ears64 54 Very frequent (99-80%) HP:0000369
13 abnormality of the pinna64 HP:0000377
14 convex nasal ridge64 HP:0000444
15 optic nerve hypoplasia64 54 Very frequent (99-80%) HP:0000609
16 reduced subcutaneous adipose tissue64 HP:0001002
17 seizures64 HP:0001250
18 joint stiffness64 HP:0001387
19 failure to thrive64 HP:0001508
20 cerebellar agenesis64 HP:0012642
21 neonatal insulin-dependent diabetes mellitus54 Very frequent (99-80%)
22 cerebellar hypoplasia54 Very frequent (99-80%)
23 aplasia/hypoplasia of the pancreas54 Frequent (79-30%)

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 Agenesis27 24 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

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MalaCards organs/tissues related to Pancreatic and Cerebellar Agenesis:

36
Pancreas

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, NT437deletionPathogenicChr na, -1: -1
2PTF1ANM_178161.2(PTF1A): c.886C> T (p.Arg296Ter)SNVPathogenicrs104894186GRCh37Chr 10, 23482734: 23482734
3PTF1APTF1A, 1-BP INS, 705GinsertionPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet