PACA
MCID: PNC104
MIFTS: 26

Pancreatic and Cerebellar Agenesis (PACA)

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

Aliases & Classifications for Pancreatic and Cerebellar Agenesis

MalaCards integrated aliases for Pancreatic and Cerebellar Agenesis:

Name: Pancreatic and Cerebellar Agenesis 58 60 76 74
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 58 30 13 6
Paca 58 76
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 60
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 76
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 76
Agenesis, Pancreatic and Cerebellar 41

Characteristics:

Orphanet epidemiological data:

60
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

33
pancreatic and cerebellar agenesis:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pancreatic and Cerebellar Agenesis

UniProtKB/Swiss-Prot : 76 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 10.2
2 diabetes mellitus 10.2
3 neonatal diabetes mellitus 10.2
4 bowen's disease 10.1
5 alzheimer disease 10.0
6 horns in sheep 10.0
7 pancreas adenocarcinoma 10.0
8 polycystic echinococcosis 10.0
9 dementia 10.0
10 echinococcosis 10.0
11 leptospirosis 10.0
12 adenocarcinoma 10.0
13 mediastinal endodermal sinus tumors 10.0
14 cerebellar agenesis 9.9

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

Human phenotypes related to Pancreatic and Cerebellar Agenesis:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 optic nerve hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000609
3 cerebellar hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001321
4 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
5 neonatal insulin-dependent diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000857
6 short chin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000331
7 aplasia/hypoplasia of the pancreas 60 33 frequent (33%) Frequent (79-30%) HP:0100800
8 pectus carinatum 33 occasional (7.5%) HP:0000768
9 secundum atrial septal defect 33 occasional (7.5%) HP:0001684
10 overlapping fingers 33 occasional (7.5%) HP:0010557
11 diabetes mellitus 33 HP:0000819
12 seizures 33 HP:0001250
13 failure to thrive 33 HP:0001508
14 joint stiffness 33 HP:0001387
15 microcephaly 33 HP:0000252
16 hypoglycemia 33 HP:0001943
17 abnormality of the pinna 33 HP:0000377
18 apnea 33 HP:0002104
19 convex nasal ridge 33 HP:0000444
20 cerebellar agenesis 33 HP:0012642
21 hyperglycemia 33 HP:0003074
22 reduced subcutaneous adipose tissue 33 HP:0003758

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

MalaCards organs/tissues related to Pancreatic and Cerebellar Agenesis:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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