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 54 56 71 69
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 24 29 13
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome 56
Neonatal Diabetes Mellitus, Permanent, with Cerebellar Agenesis 24
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis 71
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis 71
Paca 71

Characteristics:

Orphanet epidemiological data:

56
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy


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 : 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 neonatal diabetes mellitus, and has symptoms including low-set ears, cerebellar hypoplasia and triangular face. 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:

id Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 10.0
2 neonatal diabetes mellitus 10.0
3 polycystic echinococcosis 9.8
4 echinococcosis 9.8
5 pancreatitis 9.7
6 cerebellar agenesis 9.7

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:

54

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

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

Skeletal:
joint stiffness

Head And Neck- Nose:
beaked nose

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

Abdomen- Pancreas:
pancreatic hypoplasia or agenesis

Skeletal- Hands:
overlapping fingers (in some patients)

Hematology:
anemia requiring transfusions

Head And Neck- Head:
microcephaly

Head And Neck- Face:
small chin
triangular face

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

Respiratory:
episodic apnea
irregular respiratory pattern

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

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:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 cerebellar hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001321
3 triangular face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000325
4 optic nerve hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000609
5 short chin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000331
6 neonatal insulin-dependent diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000857
7 aplasia/hypoplasia of the pancreas 56 32 frequent (33%) Frequent (79-30%) HP:0100800
8 failure to thrive 32 HP:0001508
9 seizures 32 HP:0001250
10 microcephaly 32 HP:0000252
11 pectus carinatum 32 occasional (7.5%) HP:0000768
12 joint stiffness 32 HP:0001387
13 overlapping fingers 32 occasional (7.5%) HP:0010557
14 convex nasal ridge 32 HP:0000444
15 cerebellar agenesis 32 HP:0012642
16 secundum atrial septal defect 32 occasional (7.5%) HP:0001684
17 abnormality of the pinna 32 HP:0000377
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:

id Genetic test Affiliating Genes
1 Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 29 24 PTF1A

Anatomical Context for Pancreatic and Cerebellar Agenesis

MalaCards organs/tissues related to Pancreatic and Cerebellar Agenesis:

39
Pancreas

Publications for Pancreatic and Cerebellar Agenesis

Articles related to Pancreatic and Cerebellar Agenesis:

id 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
id 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 PTF1A, 1-BP INS, 705G insertion Pathogenic
3 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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