MCID: DBT024
MIFTS: 21

Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis malady

Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Summaries for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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48OMIM, 34MalaCards
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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:48 609069

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

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21GeneTests, 23GTR, 48OMIM, 50Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 21 23 48
permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 50
pancreatic and cerebellar agenesis 50


External Ids:

OMIM48 609069

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

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18GeneCards, 19GeneDecks
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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

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48OMIM, 50Orphanet
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Clinical features from OMIM:

609069

Symptoms:

50 (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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

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

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

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

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21GeneTests, 23GTR
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Genetic tests related to Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:

id Genetic test Affiliating Genes
1 Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis21 23 PTF1A

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

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34MalaCards
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MalaCards organs/tissues related to Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:

34
Cerebellum, Pancreas

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

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Publications for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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Variations for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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1 National Center for Biotechnology Information (Clinvar)
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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

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16Gene Expression Omnibus DataSets
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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet