MCID: DBT024
MIFTS: 20

Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis malady

Neuronal diseases, Endocrine diseases, Fetal diseases categories

Summaries for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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46OMIM, 32MalaCards
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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 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:46 609069

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

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 48
pancreatic and cerebellar agenesis 48


External Ids:

OMIM46 609069

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

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17GeneCards, 18GeneDecks
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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

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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

609069

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:

32
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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Genetic Variations for Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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

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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

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet