eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| late infantile neuronal ceroid lipofuscinosis | ||||
| Disease ID | 1110 |
|---|---|
| Disease | late infantile neuronal ceroid lipofuscinosis |
| Definition | This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. |
| Synonym | amaurotic idiocy early juvenile type amaurotic idiocy late infantile type amaurotic idiocy, early juvenile type amaurotic idiocy, late infantile type bielschowsky disease jansky bielschowsky-jansky disease bielschowsky-jansky type neuronal ceroid lipofuscinosis cln2 disease, jansky-bielschowsky dollinger-bielschowsky syndrome dollinger-bielschowsky type neuronal ceroid lipofuscinosis jansky bielschowsky dis jansky bielschowsky disease jansky-bielschowsky disease late-infantile neuronal ceroid lipfuscinosis late-infantile neuronal ceroid lipofuscinosis late-infantile neuronal ceroid lipofuscinosis (disorder) lincl neuronal ceroid lipofuscinosis type 2 neuronal ceroid lipofuscinosis, late infantile neuronal ceroid lipofuscinosis, late-infantile |
| Orphanet | |
| OMIM | |
| UMLS | C0022340 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1110 |
|---|---|
| Disease | late infantile neuronal ceroid lipofuscinosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0002353 | EEG abnormality HP:0001250 | Seizures HP:0002059 | Cerebral atrophy HP:0009023 | Abdominal wall muscle weakness HP:0001251 | Ataxia HP:0000504 | Abnormality of vision HP:0001336 | Myoclonus HP:0000488 | Retinopathy HP:0000649 | Abnormality of visual evoked potentials HP:0002376 | Developmental regression HP:0000512 | Abnormal electroretinogram HP:0000478 | Abnormality of the eye |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1110 |
|---|---|
| Disease | late infantile 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119455955 | 12950156 | 1200 | TPP1 | umls:C0022340 | BeFree | R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. | 0.011943442 | 2003 | TPP1 | 11 | 6617040 | G | A |
| rs119455956 | 11462245 | 1200 | TPP1 | umls:C0022340 | BeFree | Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity. | 0.011943442 | 2001 | TPP1 | 11 | 6615256 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009023 | Abdominal wall muscle weakness | MP:0010996 | increased aorta wall thickness | increased depth of the part of the aorta that encloses the luminal space |
| 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:0000649 | Abnormality of visual evoked potentials | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000512 | Abnormal electroretinogram | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002059 | Cerebral atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0009023 | Abdominal wall muscle weakness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000649 | Abnormality of visual evoked potentials | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1110 |
|---|---|
| Disease | late infantile neuronal ceroid lipofuscinosis |
| Case | (Waiting for update.) |