PACA
MCID: PNC104
MIFTS: 37

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 56 58 73 71
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 56 29 13 6
Paca 56 73
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 58
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 73
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 73
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:

56
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

31
pancreatic and cerebellar agenesis:
Clinical modifier 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 : 73 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 polycystic echinococcosis, 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 drugs Adalimumab and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include breast, pancreas and prostate, 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 31)
# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 10.4
2 polycystic echinococcosis 10.3
3 echinococcosis 10.3
4 rectum cancer 10.3
5 hair whorl 10.2
6 triiodothyronine receptor auxiliary protein 10.2
7 plague 10.2
8 pancreatic adenocarcinoma 10.2
9 bowen's disease 10.2
10 autosomal recessive disease 10.2
11 cerebellar hypoplasia 10.2
12 alzheimer disease 10.1
13 kala-azar 1 10.1
14 exanthem 10.1
15 cardiac arrest 10.1
16 bacterial infectious disease 10.1
17 cholera 10.1
18 dental caries 10.1
19 leptospirosis 10.1
20 ischemia 10.1
21 pancreatic ductal adenocarcinoma 10.1
22 leishmaniasis 10.1
23 cutaneous leishmaniasis 10.1
24 posttransplant acute limbic encephalitis 10.1
25 acute sensory ataxic neuropathy 10.1
26 diabetes mellitus, permanent neonatal 1 9.9
27 helix syndrome 9.9
28 diabetes mellitus, permanent neonatal 4 9.9
29 hereditary ataxia 9.9
30 neonatal diabetes mellitus 9.9
31 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:

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 joint stiffness 31 HP:0001387
13 microcephaly 31 HP:0000252
14 failure to thrive 31 HP:0001508
15 hypoglycemia 31 HP:0001943
16 anemia 31 HP:0001903
17 diabetes mellitus 31 HP:0000819
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:

56
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 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)

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

Skeletal:
joint stiffness

Growth Other:
failure to thrive
intrauterine growth retardation

Skeletal Feet:
talipes equinovarus

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

Clinical features from OMIM:

609069

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):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 3 331731-18-1 16219006
2
Progesterone Approved, Vet_approved 57-83-0 5994
3
Ethanol Approved 64-17-5 702
4 fluindione Approved, Investigational 957-56-2
5
Rivaroxaban Approved 366789-02-8
6
Apixaban Approved 503612-47-3 10182969
7
Choline Approved, Nutraceutical 62-49-7 305
8 Hypolipidemic Agents
9 Lipid Regulating Agents
10 Gastrointestinal Agents
11 Antimetabolites
12 Anti-Bacterial Agents
13 Antibiotics, Antitubercular
14 Anticoagulants
15 Coagulants

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled Pilot Study for Evaluating the Efficacy of the Homeopathic Remedy Traumeel S on Pain Reduction Following Tonsillectomy in Adult Patients. Unknown status NCT00410332 Phase 3 Traumeel S;Placebo
2 Impact of Adalimumab Therapy on Brachial Endothelial Function and Large Artery Stiffness in Patients With Rheumatoid Arthritis Completed NCT01954381 Phase 3
3 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
4 Evaluation of the Practice of the TEP Choline in Provence - Alps and Côte d'Azur at Patients With Prostate Cancer - Multicentre Retrospective Study. Unknown status NCT03201380
5 Prevalence of Psychocognitive Impairments in Adolescents Surviving Childhood Leukemia : LEA-PsyCog Unknown status NCT01741662
6 Screening Project for a Detection of Fabry Disease in Chronic Renal Failure Patients in Area PACA Unknown status NCT01374997
7 Description of the Evolution of a Cohort of Adolescents With Type 1 Diabetes Following Their Participation in Therapeutic Education Program Based on Social Cognitive Theory: Socio-cognitive Profile, Physiological Behaviour of Therapeutic Adherence and Quality of Life Unknown status NCT02859818
8 Optimization and Improvement of Care Course for 75 Years and Over Patient With Cancer and Living in Nursing Home on the Marseille Agglomeration Unknown status NCT03103659
9 Magnetic Resonance Spectroscopy at Term-equivalent Age and Executive Functions at 5 Years of Age Corrected in Very Preterm Infants Unknown status NCT02851537
10 A Pilot Study Evaluating the PROgnostic Contribution of Venous Lactate for the Recovery of Spontaneous Cardiac Activity, Following an Extra-hospital Cardiac Arrest "PROLAC Study" Unknown status NCT03325452
11 Pregnant Exposure to Persistent Organic Pollutants With Endocrine Disrupting Activity and Development of Breast Cancer in the Next 15 Years: Longitudinal Prospective Cohort Nested Case-control Study Completed NCT03419026
12 Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation Completed NCT02862340
13 Evaluation of Therapeutic Management in ESBL-infected Patients or Carriers by Providing and Sharing a Free Tool - the "ESBL toolKIT" and Interventional Study of a Prospective Cohort of HIV+ Patients Searching for Possible Sexual Transmission Factors in ESBL (Extended-spectrum ß-lacatamase-producing Bacteria) Carriers Completed NCT02011009
14 Long-term Follow-up of Childhood Cancer Survivors in the Rhône-Alpes and Auvergne Regions of France Completed NCT01531478
15 Multicenter Pilot Study: Measuring the Evolution of Learning Words and Phrases in Children With Autism Spectrum Disorder Using an Innovative Edutainment Software (SEMATIC) Completed NCT02791789
16 Population-based Cancer Observatory of the French Region Sud-Provence-Alpes-Côte d'Azur Recruiting Incident Cases of Cancer Since 2005 Recruiting NCT03687151
17 Generalized Training Program for Caregivers on the ESDM Recruiting NCT03769571
18 Multi-centre Prospective Cohort of Childhood Leukaemia: Determinants of Health and Quality of Life of the Patients After Treatment for an Acute Leukaemia During Childhood or Adolescence - LEA Recruiting NCT01756599
19 Effectiveness of Various Environmental Measures to Eliminate the Risks of Lead Exposure in Infant Lead Poisoning Not yet recruiting NCT03640143
20 Genital Haemorrhage in Woman of Childbearing Age Treated for Venous Thromboembolism Disease : Comparison According to Oral Anticoagulant and Impact on Quality of Life. Not yet recruiting NCT03772366
21 Effectiveness of the Evaluation and Communication of "Pulmonary Age" as Help for Smoking Cessation: a Cluster Randomized Essay Not yet recruiting NCT04276116
22 Study of the Cannabis Use of Minors Imprisoned in the PACA Region (France) Not yet recruiting NCT03659942
23 Peri-gravidic Exposure to Endocrine Disrupting Persistent Organic Pollutants Dioxins and Dioxin-like Dioxins and the Development of Breast Cancer Within 15 Years: Prospective Longitudinal Case-control Study Not yet recruiting NCT03673150
24 Monitoring prEscriptiondruG Abuse Using DOctor Shopping bEhavior Not yet recruiting NCT03254238

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
Breast, Pancreas, Prostate, Endothelial

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. 56 6 61
15543146 2004
2
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. 56 6
21749365 2011
3
Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. 56 6
10507728 1999
4
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. 56
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 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTF1A NM_178161.3(PTF1A):c.886C>T (p.Arg296Ter)SNV Pathogenic 3425 rs104894186 10:23482734-23482734 10:23193805-23193805
2 PTF1A NM_178161.3(PTF1A):c.705dup (p.Pro236fs)duplication Pathogenic 3426 10:23482158-23482159 10:23193229-23193230
3 PTF1A PTF1A, 24-BP DEL, NT437deletion Pathogenic 30651
4 PTF1A NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)SNV Conflicting interpretations of pathogenicity 130054 rs535090775 10:23481728-23481728 10:23192799-23192799
5 PTF1A NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr)SNV Conflicting interpretations of pathogenicity 436444 rs565666569 10:23481958-23481958 10:23193029-23193029
6 PTF1A NM_178161.3(PTF1A):c.44C>T (p.Ala15Val)SNV Conflicting interpretations of pathogenicity 451673 rs140097468 10:23481503-23481503 10:23192574-23192574
7 PTF1A NM_178161.3(PTF1A):c.654C>A (p.Leu218=)SNV Conflicting interpretations of pathogenicity 299626 rs886046910 10:23482113-23482113 10:23193184-23193184
8 PTF1A NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys)SNV Uncertain significance 299627 rs181911810 10:23482808-23482808 10:23193879-23193879
9 PTF1A NM_178161.3(PTF1A):c.*306C>GSNV Uncertain significance 299634 rs769212869 10:23483141-23483141 10:23194212-23194212
10 PTF1A NM_178161.3(PTF1A):c.*117A>GSNV Uncertain significance 299629 rs886046911 10:23482952-23482952 10:23194023-23194023
11 PTF1A NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu)SNV Uncertain significance 299625 rs886046909 10:23482076-23482076 10:23193147-23193147
12 PTF1A NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile)SNV Uncertain significance 549537 rs1162744670 10:23481724-23481724 10:23192795-23192795
13 PTF1A NM_178161.3(PTF1A):c.8C>T (p.Ala3Val)SNV Uncertain significance 880486 10:23481467-23481467 10:23192538-23192538
14 PTF1A NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser)SNV Uncertain significance 880487 10:23481574-23481574 10:23192645-23192645
15 PTF1A NM_178161.3(PTF1A):c.201C>T (p.Cys67=)SNV Uncertain significance 880488 10:23481660-23481660 10:23192731-23192731
16 PTF1A NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu)SNV Uncertain significance 877718 10:23481800-23481800 10:23192871-23192871
17 PTF1A NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr)SNV Uncertain significance 877719 10:23481821-23481821 10:23192892-23192892
18 PTF1A NM_178161.3(PTF1A):c.446C>T (p.Ala149Val)SNV Uncertain significance 877720 10:23481905-23481905 10:23192976-23192976
19 PTF1A NM_178161.3(PTF1A):c.462G>T (p.Arg154=)SNV Uncertain significance 877721 10:23481921-23481921 10:23192992-23192992
20 PTF1A NM_178161.3(PTF1A):c.*272G>ASNV Uncertain significance 879345 10:23483107-23483107 10:23194178-23194178
21 PTF1A NM_178161.3(PTF1A):c.*283T>CSNV Uncertain significance 879346 10:23483118-23483118 10:23194189-23194189
22 PTF1A NM_178161.3(PTF1A):c.*316T>CSNV Uncertain significance 879347 10:23483151-23483151 10:23194222-23194222
23 PTF1A NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp)SNV Uncertain significance 299623 rs569569636 10:23481722-23481722 10:23192793-23192793
24 PTF1A NM_178161.3(PTF1A):c.*265A>GSNV Uncertain significance 299633 rs886046914 10:23483100-23483100 10:23194171-23194171
25 PTF1A NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr)SNV Likely benign 880489 10:23481688-23481688 10:23192759-23192759
26 PTF1A NM_178161.3(PTF1A):c.*190C>TSNV Likely benign 299632 rs74121767 10:23483025-23483025 10:23194096-23194096
27 PTF1A NM_178161.3(PTF1A):c.102C>T (p.Asp34=)SNV Benign/Likely benign 299621 rs199831799 10:23481561-23481561 10:23192632-23192632
28 PTF1A NM_178161.3(PTF1A):c.162C>T (p.Ser54=)SNV Benign/Likely benign 299622 rs117678424 10:23481621-23481621 10:23192692-23192692
29 PTF1A NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)SNV Benign 130055 rs7918487 10:23482635-23482635 10:23193706-23193706
30 PTF1A NM_178161.3(PTF1A):c.386C>T (p.Ala129Val)SNV Benign 299624 rs370163562 10:23481845-23481845 10:23192916-23192916
31 PTF1A NM_178161.3(PTF1A):c.*15G>ASNV Benign 299628 rs10828415 10:23482850-23482850 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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