eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| adult neuronal ceroid lipofuscinosis | ||||
| Disease ID | 1891 |
|---|---|
| Disease | adult neuronal ceroid lipofuscinosis |
| Synonym | adult neuronal ceroid lipofuscinosis (disorder) adult-type amaurotic idiocy amaurotic idiocy adult type amaurotic idiocy late familial amaurotic idiocy, adult type ceroid lipofuscinosis, neuronal 4 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive cln4a cln4as disease, kuf's disease, kufs' kuf disease kuf's disease kufs dis kufs disease kufs disease autosomal recessive kufs disease, autosomal recessive kufs type neuronal ceroid lipofuscinosis kufs' disease late familial amaurotic idiocy neuronal ceroid lipofuscinosis, adult neuronal ceroid lipofuscinosis, adult type |
| Orphanet | |
| OMIM | |
| UMLS | C0022797 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1891 |
|---|---|
| Disease | adult neuronal ceroid lipofuscinosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:25) HP:0002071 | Extrapyramidal dysfunction HP:0001336 | Myoclonus HP:0001268 | Mental deterioration HP:0007256 | Abnormal pyramidal signs HP:0000572 | Visual loss HP:0001336 | Myoclonic jerks HP:0008765 | Auditory hallucinations HP:0003208 | Fingerprint profiles ultrastructurally HP:0002059 | Degeneration of cerebrum HP:0001251 | Ataxia HP:0002074 | Increased neuronal autofluorescent lipopigment HP:0002310 | Orofacial dyskinesia HP:0003657 | Granular osmiophilic deposits (GROD) in cells HP:0002367 | Visual hallucinations HP:0001250 | Seizures HP:0002071 | Abnormality of extrapyramidal motor function HP:0000726 | Dementia HP:0000648 | Optic atrophy HP:0003205 | 'curvilinear profiles' ultrastructurally HP:0002352 | Leukoencephalopathy HP:0002333 | Motor deterioration HP:0003226 | Rectilinear profiles ultrastructurally HP:0000716 | Depression HP:0000725 | Psychotic episodes HP:0002123 | Generalized myoclonic seizures |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1891 |
|---|---|
| Disease | adult neuronal ceroid lipofuscinosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs154774633 | NA | 54982 | CLN6 | umls:C0022797 | CLINVAR | NA | 0.360542884 | NA | CLN6 | 15 | 68214387 | A | G |
| rs154774634 | NA | 54982 | CLN6 | umls:C0022797 | CLINVAR | NA | 0.360542884 | NA | CLN6 | 15 | 68211853 | C | T |
| rs154774635 | NA | 54982 | CLN6 | umls:C0022797 | CLINVAR | NA | 0.360542884 | NA | CLN6 | 15 | 68218595 | G | A |
| rs154774636 | NA | 54982 | CLN6 | umls:C0022797 | CLINVAR | NA | 0.360542884 | NA | CLN6 | 15 | 68229568 | C | G |
| rs63750391 | 21212640 | 5663 | PSEN1 | umls:C0022797 | BeFree | The pathogenic M146I mutation in PSEN1, and instrumental findings common to adult neuronal ceroid lipofuscinosis were found in the same patient. | 0.000542884 | 2011 | PSEN1 | 14 | 73173665 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | MP:0003246 | loss of GABAergic neurons | loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event |
| HP:0007256 | Abnormal pyramidal signs | MP:0009940 | abnormal hippocampus pyramidal cell morphology | any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from |
| HP:0003226 | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | MP:0003246 | loss of GABAergic neurons | loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event |
| HP:0002059 | Cerebral atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002123 | Generalized myoclonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | MP:0003246 | loss of GABAergic neurons | loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event |
| HP:0002074 | Increased neuronal autofluorescent lipopigment | MP:0011975 | neuronal cytoplasmic inclusions | presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002123 | Generalized myoclonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002367 | Visual hallucinations | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002310 | Orofacial dyskinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | MP:0011975 | neuronal cytoplasmic inclusions | presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders |
| HP:0002333 | Motor deterioration | MP:0012559 | decreased forebrain volume | decrease from the average range of forebrain volume compared to normal |
| HP:0001268 | Mental deterioration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002352 | Leukoencephalopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003657 | Granular osmiophilic deposits (GROD) in cells | MP:0010123 | increased bone mineral content | elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area |
| HP:0008765 | Auditory hallucinations | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003226 | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | MP:0010123 | increased bone mineral content | elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002074 | Increased neuronal autofluorescent lipopigment | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002059 | Cerebral atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | MP:0011079 | decreased macrophage cytokine production | reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an decrease in its intracellular or extracellular levels |
| HP:0000725 | Psychotic episodes | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| Disease ID | 1891 |
|---|---|
| Disease | adult neuronal ceroid lipofuscinosis |
| Case | (Waiting for update.) |