PACA
MCID: PNC104
MIFTS: 34

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 57 58 72 70
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 57 29 13 6
Paca 57 72
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 58
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 72
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 72
Agenesis, Pancreatic and Cerebellar 39

Characteristics:

Orphanet epidemiological data:

58
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

31
pancreatic and cerebellar agenesis:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Pancreatic and Cerebellar Agenesis

UniProtKB/Swiss-Prot : 72 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 pancreatic cancer and pancreatic adenocarcinoma, and has symptoms including seizures and joint stiffness. An important gene associated with Pancreatic and Cerebellar Agenesis is PTF1A (Pancreas Associated Transcription Factor 1a). The drug Progesterone has been mentioned in the context of this disorder. Affiliated tissues include pancreas and cervix, and related phenotypes are low-set ears and triangular face

More information 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 49)
# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 10.7
2 pancreatic adenocarcinoma 10.3
3 adenocarcinoma 10.2
4 pancreatic ductal adenocarcinoma 10.2
5 autosomal recessive disease 10.2
6 cerebellar hypoplasia 10.2
7 triiodothyronine receptor auxiliary protein 10.1
8 rectum cancer 10.1
9 helix syndrome 10.0
10 hereditary ataxia 10.0
11 permanent neonatal diabetes mellitus 10.0
12 neonatal diabetes 10.0
13 cerebellar agenesis 10.0
14 hair whorl 10.0
15 polycystic echinococcosis 10.0
16 echinococcosis 10.0
17 cholera 10.0
18 dental caries 10.0
19 plague 10.0
20 bowen's disease 10.0
21 alzheimer disease 9.8
22 fibrosis of extraocular muscles, congenital, 1 9.8
23 retinoblastoma 9.8
24 familial mediterranean fever 9.8
25 pulmonary disease, chronic obstructive 9.8
26 kala-azar 1 9.8
27 myocardial infarction 9.8
28 proteinuria, chronic benign 9.8
29 exanthem 9.8
30 colorectal adenocarcinoma 9.8
31 pain agnosia 9.8
32 cardiac arrest 9.8
33 parkinsonism 9.8
34 bacterial infectious disease 9.8
35 brucellosis 9.8
36 dementia 9.8
37 gout 9.8
38 neuroendocrine tumor 9.8
39 leptospirosis 9.8
40 cervix carcinoma 9.8
41 glioblastoma 9.8
42 end stage renal disease 9.8
43 leishmaniasis 9.8
44 cutaneous leishmaniasis 9.8
45 glioma 9.8
46 posttransplant acute limbic encephalitis 9.8
47 glial tumor 9.8
48 acute sensory ataxic neuropathy 9.8
49 ppoma 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

Human phenotypes related to Pancreatic and Cerebellar Agenesis:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
3 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
4 optic nerve hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000609
5 short chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000331
6 neonatal insulin-dependent diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000857
7 aplasia/hypoplasia of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0100800
8 pectus carinatum 31 occasional (7.5%) HP:0000768
9 overlapping fingers 31 occasional (7.5%) HP:0010557
10 secundum atrial septal defect 31 occasional (7.5%) HP:0001684
11 hyporeflexia 31 very rare (1%) HP:0001265
12 failure to thrive 31 HP:0001508
13 diabetes mellitus 31 HP:0000819
14 joint stiffness 31 HP:0001387
15 microcephaly 31 HP:0000252
16 hypoglycemia 31 HP:0001943
17 anemia 31 HP:0001903
18 apnea 31 HP:0002104
19 convex nasal ridge 31 HP:0000444
20 abnormality of the pinna 31 HP:0000377
21 cerebellar agenesis 31 HP:0012642
22 hyperglycemia 31 HP:0003074
23 pancreatic hypoplasia 31 HP:0002594
24 reduced subcutaneous adipose tissue 31 HP:0003758
25 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
cerebellar hypoplasia or agenesis
hypotonicity (in some patients)
decreased reflexes (in some patients)

Skeletal:
joint stiffness

Head And Neck Ears:
low-set ears
dysplastic ears

Head And Neck Face:
triangular face
small chin

Muscle Soft Tissue:
decreased subcutaneous fat

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

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

Abdomen Pancreas:
pancreatic hypoplasia or agenesis

Skeletal Hands:
overlapping fingers (in some patients)

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Head:
microcephaly

Skeletal Feet:
talipes equinovarus

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

Head And Neck Nose:
beaked nose

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

Respiratory:
irregular respiratory pattern
episodic apnea

Skeletal Limbs:
flexion contractures of upper and lower extremities

Hematology:
anemia requiring transfusions

Clinical features from OMIM®:

609069 (Updated 20-May-2021)

UMLS symptoms related to Pancreatic and Cerebellar Agenesis:


seizures; joint stiffness

Drugs & Therapeutics for Pancreatic and Cerebellar Agenesis

Drugs for Pancreatic and Cerebellar Agenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved 57-83-0 5994

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of the Cannabis Use of Minors Imprisoned in the PACA Region (France) Unknown status NCT03659942
2 Premature Labour Screening by Cervical Ultrasound for Asymptomatic Pregnant Women in the PACA Region. Various Treatment Strategies : 1. Progesterone 200mg (Vaginal Way) 2. Pessary 3. Vaginal Stitching 4. Rest Unknown status NCT02598323
3 Screening Project for a Detection of Fabry Disease in Chronic Renal Failure Patients in Area PACA Unknown status NCT01374997

Search 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:

40
Pancreas, Cervix

Publications for Pancreatic and Cerebellar Agenesis

Articles related to Pancreatic and Cerebellar Agenesis:

# Title Authors PMID Year
1
Mutations in PTF1A cause pancreatic and cerebellar agenesis. 6 57 61
15543146 2004
2
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. 6 57
21749365 2011
3
Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. 57 6
10507728 1999
4
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. 57
19650412 2009
5
Transcription factor Ptf1a in development, diseases and reprogramming. 61
30470852 2019
6
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. 61
28663161 2017
7
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 61
27284104 2016
8
PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L. 61
16354684 2006

Variations for Pancreatic and Cerebellar Agenesis

ClinVar genetic disease variations for Pancreatic and Cerebellar Agenesis:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTF1A NM_178161.3(PTF1A):c.886C>T (p.Arg296Ter) SNV Pathogenic 3425 rs104894186 GRCh37: 10:23482734-23482734
GRCh38: 10:23193805-23193805
2 PTF1A PTF1A, 24-BP DEL, NT437 Deletion Pathogenic 30651 GRCh37:
GRCh38:
3 PTF1A NM_178161.3(PTF1A):c.705dup (p.Pro236fs) Duplication Pathogenic 3426 rs886039746 GRCh37: 10:23482158-23482159
GRCh38: 10:23193229-23193230
4 PTF1A NM_178161.3(PTF1A):c.654C>A (p.Leu218=) SNV Uncertain significance 299626 rs886046910 GRCh37: 10:23482113-23482113
GRCh38: 10:23193184-23193184
5 PTF1A NM_178161.3(PTF1A):c.44C>T (p.Ala15Val) SNV Uncertain significance 451673 rs140097468 GRCh37: 10:23481503-23481503
GRCh38: 10:23192574-23192574
6 PTF1A NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys) SNV Uncertain significance 299627 rs181911810 GRCh37: 10:23482808-23482808
GRCh38: 10:23193879-23193879
7 PTF1A NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) SNV Uncertain significance 130054 rs535090775 GRCh37: 10:23481728-23481728
GRCh38: 10:23192799-23192799
8 PTF1A NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile) SNV Uncertain significance 549537 rs1162744670 GRCh37: 10:23481724-23481724
GRCh38: 10:23192795-23192795
9 PTF1A NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp) SNV Uncertain significance 299623 rs569569636 GRCh37: 10:23481722-23481722
GRCh38: 10:23192793-23192793
10 PTF1A NM_178161.3(PTF1A):c.*306C>G SNV Uncertain significance 299634 rs769212869 GRCh37: 10:23483141-23483141
GRCh38: 10:23194212-23194212
11 PTF1A NM_178161.3(PTF1A):c.*117A>G SNV Uncertain significance 299629 rs886046911 GRCh37: 10:23482952-23482952
GRCh38: 10:23194023-23194023
12 PTF1A NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu) SNV Uncertain significance 299625 rs886046909 GRCh37: 10:23482076-23482076
GRCh38: 10:23193147-23193147
13 PTF1A NM_178161.3(PTF1A):c.*265A>G SNV Uncertain significance 299633 rs886046914 GRCh37: 10:23483100-23483100
GRCh38: 10:23194171-23194171
14 PTF1A NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu) SNV Uncertain significance 877718 GRCh37: 10:23481800-23481800
GRCh38: 10:23192871-23192871
15 PTF1A NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr) SNV Uncertain significance 877719 GRCh37: 10:23481821-23481821
GRCh38: 10:23192892-23192892
16 PTF1A NM_178161.3(PTF1A):c.446C>T (p.Ala149Val) SNV Uncertain significance 877720 GRCh37: 10:23481905-23481905
GRCh38: 10:23192976-23192976
17 PTF1A NM_178161.3(PTF1A):c.462G>T (p.Arg154=) SNV Uncertain significance 877721 GRCh37: 10:23481921-23481921
GRCh38: 10:23192992-23192992
18 PTF1A NM_178161.3(PTF1A):c.*272G>A SNV Uncertain significance 879345 GRCh37: 10:23483107-23483107
GRCh38: 10:23194178-23194178
19 PTF1A NM_178161.3(PTF1A):c.*283T>C SNV Uncertain significance 879346 GRCh37: 10:23483118-23483118
GRCh38: 10:23194189-23194189
20 PTF1A NM_178161.3(PTF1A):c.*316T>C SNV Uncertain significance 879347 GRCh37: 10:23483151-23483151
GRCh38: 10:23194222-23194222
21 PTF1A NM_178161.3(PTF1A):c.8C>T (p.Ala3Val) SNV Uncertain significance 880486 GRCh37: 10:23481467-23481467
GRCh38: 10:23192538-23192538
22 PTF1A NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser) SNV Uncertain significance 880487 GRCh37: 10:23481574-23481574
GRCh38: 10:23192645-23192645
23 PTF1A NM_178161.3(PTF1A):c.201C>T (p.Cys67=) SNV Uncertain significance 880488 GRCh37: 10:23481660-23481660
GRCh38: 10:23192731-23192731
24 PTF1A NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr) SNV Likely benign 880489 GRCh37: 10:23481688-23481688
GRCh38: 10:23192759-23192759
25 PTF1A NM_178161.3(PTF1A):c.162C>T (p.Ser54=) SNV Likely benign 299622 rs117678424 GRCh37: 10:23481621-23481621
GRCh38: 10:23192692-23192692
26 PTF1A NM_178161.3(PTF1A):c.102C>T (p.Asp34=) SNV Likely benign 299621 rs199831799 GRCh37: 10:23481561-23481561
GRCh38: 10:23192632-23192632
27 PTF1A NM_178161.3(PTF1A):c.*190C>T SNV Likely benign 299632 rs74121767 GRCh37: 10:23483025-23483025
GRCh38: 10:23194096-23194096
28 PTF1A NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr) SNV Likely benign 436444 rs565666569 GRCh37: 10:23481958-23481958
GRCh38: 10:23193029-23193029
29 PTF1A NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) SNV Benign 130055 rs7918487 GRCh37: 10:23482635-23482635
GRCh38: 10:23193706-23193706
30 PTF1A NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) SNV Benign 130054 rs535090775 GRCh37: 10:23481728-23481728
GRCh38: 10:23192799-23192799
31 PTF1A NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) SNV Benign 299624 rs370163562 GRCh37: 10:23481845-23481845
GRCh38: 10:23192916-23192916
32 PTF1A NM_178161.3(PTF1A):c.*15G>A SNV Benign 299628 rs10828415 GRCh37: 10:23482850-23482850
GRCh38: 10:23193921-23193921

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....