Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal cellular physiology (HP:0011017)help
..Starting node
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Abnormality of lysosomal metabolism (HP:0004356)help
Term ID: 4356
Name: Abnormality of lysosomal metabolism
Synonym:
Definition:
Comments:
Reference: HP:0004356
Genes and Diseases:
 
       Child Nodes:
........expandElevated serum acid phosphatase (HP:0003148) help
........expandDeficiency of N-acetylglucosamine-1-phosphotransferase (HP:0003264) help
........expandGranular osmiophilic deposits (GROD) in cells (HP:0003657) help
........expandLipogranulomatosis (HP:0040139) help

 Sister Nodes: 
..expandAbnormality of B cell physiology (HP:0005372) help
..expandAbnormality of chromosome condensation (HP:0011019) help
..expandAbnormality of chromosome segregation (HP:0002916) help
..expandAbnormality of chromosome stability (HP:0003220) help
..expandAbnormality of DNA repair (HP:0003254) help
..expandAbnormality of T cell physiology (HP:0011840) help
..expandAbnormality of the cell cycle (HP:0011018) help
..expandAbnormality of the mitochondrion (HP:0012103) help
..expandIncreased cellular sensitivity to UV light (HP:0003224) help
..expandIncreased sensitivity to ionizing radiation (HP:0011133) help
..expandIntracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004356HP:0004356Abnormality of lysosomal metabolism0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0004356HP:0004356Abnormality of lysosomal metabolism0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0004356HP:0004356Abnormality of lysosomal metabolism0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0004356HP:0004356Abnormality of lysosomal metabolism0CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2102
HP:0004356HP:0004356Abnormality of lysosomal metabolism0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive143
HP:0004356HP:0004356Abnormality of lysosomal metabolism0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0004356HP:0004356Abnormality of lysosomal metabolism0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0004356HP:0004356Abnormality of lysosomal metabolism0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant155
HP:0004356HP:0004356Abnormality of lysosomal metabolism0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0004356HP:0004356Abnormality of lysosomal metabolism0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta240
HP:0004356HP:0004356Abnormality of lysosomal metabolism0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0004356HP:0004356Abnormality of lysosomal metabolism0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0004356HP:0004356Abnormality of lysosomal metabolism0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004356HP:0004356Abnormality of lysosomal metabolism0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset44
HP:0004356HP:0040139Lipogranulomatosis1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0004356HP:0003148Elevated serum acid phosphatase1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0004356HP:0003148Elevated serum acid phosphatase1CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0004356HP:0003148Elevated serum acid phosphatase1CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0004356HP:0003657Granular osmiophilic deposits (GROD) in cells1CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0004356HP:0003657Granular osmiophilic deposits (GROD) in cells1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040281 - Very frequent111
HP:0004356HP:0003657Granular osmiophilic deposits (GROD) in cells1CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0004356HP:0003657Granular osmiophilic deposits (GROD) in cells1DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0004356HP:0003264Deficiency of N-acetylglucosamine-1-phosphotransferase1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0004356HP:0003264Deficiency of N-acetylglucosamine-1-phosphotransferase1GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0004356HP:0003657Granular osmiophilic deposits (GROD) in cells1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0004356HP:0003148Elevated serum acid phosphatase1OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0004356HP:0003148Elevated serum acid phosphatase1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004356HP:0003148Elevated serum acid phosphatase1TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset.44


Genes (12) :ASAH1 CA2 CLCN7 CLN6 CLN8 CTSD DNAJC5 GNPTAB NOTCH3 OCRL PSAP TNFRSF11B

Diseases (14) :OMIM:228000 ORPHA:2785 OMIM:259730 OMIM:166600 OMIM:204300 ORPHA:1947 OMIM:610127 OMIM:162350 OMIM:252500 OMIM:252600 OMIM:125310 OMIM:309000 OMIM:610539 OMIM:239000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.