MCID: DBT024
MIFTS: 21

Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis malady

Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis, also known as permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis, is related to pancreatitis and cerebellar agenesis, and has symptoms including triangular face, micrognathia/retrognathia/micrognathism/retrognathism and optic nerve anomaly/optic atrophy/anomaly of the papilla. An important gene associated with Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis is PTF1A (pancreas specific transcription factor, 1a). Affiliated tissues include cerebellum and pancreas.

Description from OMIM:47 609069

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

diabetes mellitus, permanent neonatal, with cerebellar agenesis 20 22 47
permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 49
pancreatic and cerebellar agenesis 49


External Ids:

OMIM47 609069

Related Diseases for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis10.2
2cerebellar agenesis10.2

Symptoms for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
47OMIM, 49Orphanet
See all sources


Clinical features from OMIM:

609069

Symptoms:

49 (show all 7)
  • triangular face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • low set ears/posteriorly rotated ears
  • insulin-independent/type 2 diabetes
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • structural anomalies of the pancreas

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

Genetic Tests for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:

id Genetic test Affiliating Genes
1 Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis20 22 PTF1A

Anatomical Context for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:

33
Cerebellum, Pancreas

Animal Models for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis or affiliated genes

About this section

Publications for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section

Variations for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:

1
id Gene Name Type Significance SNP ID Assembly Location
1PTF1APTF1A, 24-BP DEL, NT437deletionPathogenic/card/diabetes_mellitus_permanent_neonatal_with_cerebellar_agenesis
2PTF1ANM_178161.2(PTF1A): c.886C> T (p.Arg296Ter)single nucleotide variantPathogenicrs104894186GRCh37Chr 10, 23482734: 23482734
3PTF1APTF1A, 1-BP INS, 705GinsertionPathogenic

Expression for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
Sources:
15Gene Expression Omnibus DataSets
See all sources

Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis.

Pathways for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section

Compounds for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section

GO Terms for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section

Products for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet