MCID: PNC104
MIFTS: 26

Pancreatic and Cerebellar Agenesis

Categories: Genetic diseases, Neuronal diseases, Endocrine 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 57 59 75 73
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 57 29 13 6
Paca 57 75
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 59
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 75
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 75
Agenesis, Pancreatic and Cerebellar 40

Characteristics:

Orphanet epidemiological data:

59
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

32
pancreatic and cerebellar agenesis:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pancreatic and Cerebellar Agenesis

UniProtKB/Swiss-Prot : 75 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 seizures and joint stiffness. An important gene associated with Pancreatic and Cerebellar Agenesis is PTF1A (Pancreas Associated Transcription Factor 1a). Affiliated tissues include pancreas, and related phenotypes are low-set ears and optic nerve hypoplasia

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 bowen's disease 10.0
5 alzheimer disease 9.8
6 pancreas adenocarcinoma 9.8
7 echinococcosis 9.8
8 adenocarcinoma 9.8
9 pancreatitis 9.8
10 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:

57
Head And Neck Ears:
low-set ears
dysplastic ears

Skeletal:
joint stiffness

Head And Neck Eyes:
optic nerve hypoplasia
small pale optic discs

Head And Neck Nose:
beaked nose

Cardiovascular Heart:
secundum atrial septal defect (in some patients)

Abdomen Pancreas:
pancreatic hypoplasia or agenesis

Skeletal Hands:
overlapping fingers (in some patients)

Hematology:
anemia requiring transfusions

Neurologic Central Nervous System:
seizures
cerebellar hypoplasia or agenesis
hypotonicity (in some patients)
decreased reflexes (in some patients)

Head And Neck Head:
microcephaly

Head And Neck Face:
triangular face
small chin

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some patients)

Respiratory:
irregular respiratory pattern
episodic apnea

Skeletal Limbs:
flexion contractures of upper and lower extremities

Endocrine Features:
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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 optic nerve hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000609
3 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
4 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
5 neonatal insulin-dependent diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000857
6 short chin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000331
7 aplasia/hypoplasia of the pancreas 59 32 frequent (33%) Frequent (79-30%) HP:0100800
8 seizures 32 HP:0001250
9 failure to thrive 32 HP:0001508
10 pectus carinatum 32 occasional (7.5%) HP:0000768
11 joint stiffness 32 HP:0001387
12 microcephaly 32 HP:0000252
13 abnormality of the pinna 32 HP:0000377
14 convex nasal ridge 32 HP:0000444
15 secundum atrial septal defect 32 occasional (7.5%) HP:0001684
16 overlapping fingers 32 occasional (7.5%) HP:0010557
17 cerebellar agenesis 32 HP:0012642
18 reduced subcutaneous adipose tissue 32 HP:0003758

UMLS symptoms related to Pancreatic and Cerebellar Agenesis:


seizures, joint stiffness

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 29 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

MalaCards organs/tissues related to Pancreatic and Cerebellar Agenesis:

41
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 NM_178161.2(PTF1A): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs104894186 GRCh37 Chromosome 10, 23482734: 23482734
2 PTF1A NM_178161.2(PTF1A): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs104894186 GRCh38 Chromosome 10, 23193805: 23193805
3 PTF1A PTF1A, 1-BP INS, 705G insertion Pathogenic
4 PTF1A PTF1A, 24-BP DEL, NT437 deletion 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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