MCID: PNC104
MIFTS: 25

Pancreatic and Cerebellar Agenesis

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

Aliases & Classifications for Pancreatic and Cerebellar Agenesis

MalaCards integrated aliases for Pancreatic and Cerebellar Agenesis:

Name: Pancreatic and Cerebellar Agenesis 53 55 71 69
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 53 28 13
Paca 53 71
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 55
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 71
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 71

Characteristics:

Orphanet epidemiological data:

55
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

31
pancreatic and cerebellar agenesis:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pancreatic and Cerebellar Agenesis

UniProtKB/Swiss-Prot : 71 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 diabetes mellitus, and has symptoms including low-set ears, optic nerve hypoplasia and cerebellar hypoplasia. An important gene associated with Pancreatic and Cerebellar Agenesis is PTF1A (Pancreas Specific Transcription Factor, 1a). Affiliated tissues include pancreas.

Description from OMIM: 609069

Related Diseases for Pancreatic and Cerebellar Agenesis

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

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 10.1
2 diabetes mellitus 10.1
3 neonatal diabetes mellitus 10.1
4 polycystic echinococcosis 9.9
5 echinococcosis 9.9
6 pancreatitis 9.8
7 cerebellar agenesis 9.8

Graphical network of the top 20 diseases related to Pancreatic and Cerebellar Agenesis:



Diseases related to Pancreatic and Cerebellar Agenesis

Symptoms & Phenotypes for Pancreatic and Cerebellar Agenesis

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
cerebellar hypoplasia or agenesis
hypotonicity (in some patients)
decreased reflexes (in some patients)

HeadAndNeckEars:
low-set ears
dysplastic ears

HeadAndNeckEyes:
optic nerve hypoplasia
small pale optic discs

HeadAndNeckNose:
beaked nose

CardiovascularHeart:
secundum atrial septal defect (in some patients)

AbdomenPancreas:
pancreatic hypoplasia or agenesis

SkeletalHands:
overlapping fingers (in some patients)

Hematology:
anemia requiring transfusions

Skeletal:
joint stiffness

HeadAndNeckHead:
microcephaly

HeadAndNeckFace:
triangular face
small chin

ChestRibsSternumClaviclesAndScapulae:
pectus carinatum (in some patients)

Respiratory:
irregular respiratory pattern
episodic apnea

SkeletalLimbs:
flexion contractures of upper and lower extremities

EndocrineFeatures:
neonatal diabetes mellitus
intermittent severe hypoglycemia
low c-peptide levels
low to undetectable insulin levels in the presence of hyperglycemia


Clinical features from OMIM:

609069

Human phenotypes related to Pancreatic and Cerebellar Agenesis:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 optic nerve hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000609
3 cerebellar hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001321
4 triangular face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000325
5 neonatal insulin-dependent diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000857
6 short chin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000331
7 aplasia/hypoplasia of the pancreas 55 31 frequent (33%) Frequent (79-30%) HP:0100800
8 seizures 31 HP:0001250
9 joint stiffness 31 HP:0001387
10 failure to thrive 31 HP:0001508
11 pectus carinatum 31 occasional (7.5%) HP:0000768
12 microcephaly 31 HP:0000252
13 abnormality of the pinna 31 HP:0000377
14 convex nasal ridge 31 HP:0000444
15 secundum atrial septal defect 31 occasional (7.5%) HP:0001684
16 overlapping fingers 31 occasional (7.5%) HP:0010557
17 cerebellar agenesis 31 HP:0012642
18 reduced subcutaneous adipose tissue 31 HP:0003758

UMLS symptoms related to Pancreatic and Cerebellar Agenesis:


joint stiffness, seizures

Drugs & Therapeutics for Pancreatic and Cerebellar Agenesis

Search Clinical Trials , NIH Clinical Center for Pancreatic and Cerebellar Agenesis

Genetic Tests for Pancreatic and Cerebellar Agenesis

Genetic tests related to Pancreatic and Cerebellar Agenesis:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 28 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

MalaCards organs/tissues related to Pancreatic and Cerebellar Agenesis:

38
Pancreas

Publications for Pancreatic and Cerebellar Agenesis

Articles related to Pancreatic and Cerebellar Agenesis:

# Title Authors Year
1
Mutations in PTF1A cause pancreatic and cerebellar agenesis. ( 15543146 )
2004

Variations for Pancreatic and Cerebellar Agenesis

ClinVar genetic disease variations for Pancreatic and Cerebellar Agenesis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTF1A PTF1A, 24-BP DEL, NT437 deletion Pathogenic
2 PTF1A NM_178161.2(PTF1A): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs104894186 GRCh37 Chromosome 10, 23482734: 23482734
3 PTF1A PTF1A, 1-BP INS, 705G insertion Pathogenic

Expression for Pancreatic and Cerebellar Agenesis

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

Pathways for Pancreatic and Cerebellar Agenesis

GO Terms for Pancreatic and Cerebellar Agenesis

Sources for Pancreatic and Cerebellar Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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