eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| niemann-pick disease type c | ||||
| Disease ID | 194 |
|---|---|
| Disease | niemann-pick disease type c |
| Definition | An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry. |
| Synonym | neimann pick dis type c neurovisceral storage dis with vertical supranuclear ophthalmoplegia neurovisceral storage disease with vertical supranuclear ophthalmoplegia niemann pick disease with cholesterol esterification block niemann pick disease without sphingomyelinase deficiency niemann pick disease, chronic neuronopathic form niemann pick disease, type c niemann pick's disease type c niemann picks dis chronic neuronopathic form niemann picks dis type c niemann picks dis with cholesterol esterification block niemann picks dis without sphingomyelinase defic niemann-pick disease with cholesterol esterification block niemann-pick disease without sphingomyelinase deficiency niemann-pick disease, chronic neuronopathic form niemann-pick disease, type c niemann-pick disease, type c (disorder) niemann-pick disease, type c [disease/finding] niemann-pick type c disease niemann-pick's disease type c supraoptic vertical ophthalmoplegia type c niemann-pick disease |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0220756 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0851578 | sleep disorders | 1 C0020305 | hydrops fetalis | 1 C0008370 | cholestasis | 1 C0027765 | neurological disorder | 1 C0021053 | immune dysfunction | 1 C0455988 | nonimmune hydrops fetalis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 194 |
|---|---|
| Disease | niemann-pick disease type c |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0001263 | Global developmental delay HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0001618 | Dysphonia HP:0001744 | Splenomegaly HP:0001251 | Ataxia HP:0001288 | Gait disturbance HP:0100543 | Cognitive impairment HP:0001337 | Tremor HP:0002015 | Dysphagia HP:0002167 | Neurological speech impairment HP:0007256 | Abnormal pyramidal signs HP:0001332 | Dystonia HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature HP:0002376 | Developmental regression HP:0002072 | Chorea HP:0000952 | Jaundice HP:0001541 | Ascites HP:0002240 | Hepatomegaly HP:0002360 | Sleep disturbance HP:0001260 | Dysarthria |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0002524 | Cataplexy | 2 HP:0002015 | Swallowing difficulty | 1 HP:0002180 | Neurodegeneration | 1 HP:0001396 | Cholestasis | 1 HP:0001790 | Nonimmune hydrops fetalis | 1 HP:0000969 | Dropsy | 1 HP:0000605 | Supranuclear gaze paralysis | 1 HP:0000511 | Vertical supranuclear gaze palsy | 1 HP:0001789 | Hydrops fetalis | 1 |
| Disease ID | 194 |
|---|---|
| Disease | niemann-pick disease type c |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:15) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| NPC1 | - | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.38T>C, p.L13P | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.49G>A, p.A17T | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.56C>A, p.A19D | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.58G>T, p.E20X | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.88G>A, p.V30M | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.115G>A, p.V39M | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.212A>G, p.K71R | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.224A>T, p.H75L | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.271G>A, p.D91N | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.278G>T, p.C93F | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.292A>C, p.N98H | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.340C>G, p.P114A | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.441+1G>A, Intronic | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
| NPC2 | c.442-4A>C, Intronic | doi:10.1038/gim.2015.25 | High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs80358251 | 12408188 | 4864 | NPC1 | umls:C0220756 | BeFree | Interestingly, the G231V/P237S NPC1 genotype in this individual is associated with an early-onset form of NPC. | 0.142573283 | 2002 | NPC1 | 18 | 23560403 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001263 | Global developmental delay | 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:0002072 | Chorea | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001618 | Dysphonia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 194 |
|---|---|
| Disease | niemann-pick disease type c |
| Case | (Waiting for update.) |