MCID: DBT024
MIFTS: 15

Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis malady

Neuronal, Endocrine, Fetal categories

Summaries for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

Sources:
47OMIM, 33MalaCards
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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 cerebellar agenesis and pancreatic agenesis, and has symptoms including low set ears/posteriorly rotated ears, cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia and insulin-independent/type 2 diabetes. An important gene associated with Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis is PTF1A (pancreas specific transcription factor, 1a).

Description from OMIM:47 609069

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

Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Endocrine


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

Sources:
17GeneCards, 18GeneDecks
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Diseases in the permanent neonatal diabetes mellitus family:

diabetes mellitus, permanent neonatal, with cerebellar agenesis diabetes mellitus, permanent neonatal, with neurologic features

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

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

Clinical Features for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

609069

Symptoms:

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

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests, 22GTR
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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 Agenesis20 22 PTF1A

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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

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

Sources:
15Gene 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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet