Nephronophthisis 11 (NPHP11)

Alias:
Nphp11
Nephronophthisis, Type 11
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 11, also known as nphp11, is related to meckel syndrome, type 3 and retinal degeneration, and has symptoms including polyuria and polydipsia. An important gene associated with Nephronophthisis 11 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and liver, and related phenotypes are hepatic fibrosis and nephronophthisis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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13
71
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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