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Standards Ontologies Notations
neuronal ceroid lipofuscinosis 10

Summary
Synonym
  • CLN10
  • Cathepsin D deficiency
  • neuronal ceroid lipofuscinosis cathepsin D-deficient
  • neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Definition
A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
Super Class
autosomal recessive disease neuronal ceroid lipofuscinosis
Disease Ontology
DOID:0110725
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1509 CTSD cathepsin D
Displaying 1 entry
Gene ID Gene Symbol Description Source
13033 Ctsd cathepsin D
Displaying 1 entry
Gene ID Gene Symbol Description Source
171293 Ctsd cathepsin D
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
443721 ctsd.S cathepsin D S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
181444 asp-4 Aspartic protease 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
855949 PEP4 proteinase A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 84 in total
HPO ID HPO Term
HP:0000483 Astigmatism
HP:0000545 Myopia
HP:0000546 Retinal degeneration
HP:0000572 Visual loss
HP:0000618 Blindness
HP:0000649 Abnormality of visual evoked potentials
HP:0000708 Atypical behavior
HP:0000718 Aggressive behavior
HP:0000726 Dementia
HP:0000729 Autistic behavior
Displaying 1 entry
Gene ID Gene Symbol Description
5538 PPT1 palmitoyl-protein thioesterase 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024