eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nasu-hakola disease | ||||
| Disease ID | 1924 |
|---|---|
| Disease | nasu-hakola disease |
| Synonym | brain-bone-fat disease dementia, prefrontal, with bone cysts dementia, progressive, with lipomembranous polycystic osteodysplasia plosl - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) presenile dementia with bone cysts |
| Orphanet | |
| OMIM | |
| UMLS | C1857316 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1924 |
|---|---|
| Disease | nasu-hakola disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:52) HP:0011096 | Demyelination HP:0001760 | Foot deformities HP:0001155 | Hand anomalies HP:0000757 | Lack of insight HP:0002135 | Basal ganglia calcification HP:0002079 | Hypoplasia of the corpus callosum HP:0002186 | Apraxia HP:0002653 | Bone pain HP:0002340 | Caudate atrophy HP:0000657 | Oculomotor apraxia HP:0002119 | Ventriculomegaly HP:0002354 | Memory impairment HP:0005930 | Abnormality of epiphysis morphology HP:0000238 | Hydrocephalus HP:0000020 | Bladder incontinence HP:0002072 | Chorea HP:0001376 | Limitation of joint mobility HP:0002376 | Developmental regression HP:0001336 | Myoclonic jerks HP:0002829 | Arthralgia HP:0001257 | Spasticity HP:0002059 | Degeneration of cerebrum HP:0002652 | Skeletal dysplasia HP:0012719 | Functional abnormality of the gastrointestinal tract HP:0003447 | Axonal loss HP:0002127 | Abnormal shape of upper motor neuron HP:0002167 | Neurological speech impairment HP:0009124 | Abnormality of adipose tissue HP:0002120 | Cerebral cortical atrophy HP:0001250 | Seizures HP:0000708 | Behavioral abnormality HP:0001288 | Gait disturbance HP:0012062 | Bone cysts HP:0100022 | Abnormality of movement HP:0002353 | Abnormal EEG HP:0002514 | Cerebral calcification HP:0002171 | Cerebral gliosis HP:0002354 | Memory loss HP:0000751 | Personality changes HP:0000727 | Frontal lobe dementia HP:0002352 | Leukoencephalopathy HP:0012062 | Bone cyst HP:0002167 | Speech disorder HP:0002488 | Acute leukemia HP:0003487 | Extensor plantar reflexes HP:0000737 | Irritability HP:0002756 | Pathologic fracture HP:0010524 | Agnosia HP:0002476 | Primitive reflex HP:0004349 | Reduced bone mineral density HP:0000734 | Disinhibition HP:0000718 | Aggressive behaviour |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1924 |
|---|---|
| Disease | nasu-hakola disease |
| 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:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893998 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161421 | C | T |
| rs104894001 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161522 | C | T |
| rs104894002 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161557 | G | A |
| rs104894732 | NA | 7305 | TYROBP | umls:C1857316 | CLINVAR | NA | 0.442985861 | NA | TYROBP | 19 | 35908227 | A | G |
| rs121908402 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161277 | A | C |
| rs201258663 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161457 | G | A |
| rs28937876 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41158991 | C | A |
| rs28939079 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41159873 | T | C |
| rs386833839 | NA | 7305 | TYROBP | umls:C1857316 | CLINVAR | NA | 0.442985861 | NA | TYROBP | 19 | 35907559 | C | T |
| rs386833840 | NA | 7305 | TYROBP | umls:C1857316 | CLINVAR | NA | 0.442985861 | NA | TYROBP | 19 | 35907534 | C | - |
| rs386833841 | NA | 7305 | TYROBP | umls:C1857316 | CLINVAR | NA | 0.442985861 | NA | TYROBP | 19 | 35907530 | C | G |
| rs386833842 | NA | 7305 | TYROBP | umls:C1857316 | CLINVAR | NA | 0.442985861 | NA | TYROBP | 19 | 35907232 | C | A |
| rs386834140 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161385 | C | - |
| rs386834141 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161341 | C | - |
| rs386834142 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41163038 | CCT | - |
| rs386834143 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41163043 | C | A |
| rs386834144 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41159790 | A | G |
| rs797044603 | NA | 54209 | TREM2 | umls:C1857316 | CLINVAR | NA | 0.484885954 | NA | TREM2;LOC105375056 | 6 | 41161541 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000757 | Lack of insight | 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:0003447 | Axonal loss | MP:0001263 | weight loss | progressive reduction of body weight below normal average for age |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0000718 | Aggressive behavior | MP:0012312 | impaired avoidance learning behavior | impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
| HP:0012062 | Bone cyst | MP:0003414 | epidermal cyst | a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions |
| HP:0005930 | Abnormality of epiphysis morphology | 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: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:0001155 | Abnormality of the hand | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0009124 | Abnormality of adipose tissue | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002120 | Cerebral cortical 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:0002079 | Hypoplasia of the corpus callosum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000727 | Frontal lobe dementia | MP:0000801 | abnormal temporal lobe morphology | any structural anomaly of the lower lateral part of the cerebral hemisphere |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002127 | Abnormal upper motor neuron morphology | MP:0011448 | decreased dopaminergic neuron number | fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter |
| HP:0000020 | Urinary incontinence | MP:0003280 | urinary incontinence | inability to control the urinary bladder excretory functions leading to involuntary urination |
Mapped by homologous gene(Total Items:48) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012062 | Bone cyst | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011096 | Peripheral demyelination | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002476 | Primitive reflexes (palmomental, snout, glabellar) | 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:0002127 | Abnormal upper motor neuron morphology | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002756 | Pathologic fracture | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000238 | Hydrocephalus | 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 |
| HP:0000657 | Oculomotor apraxia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000718 | Aggressive behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002171 | Gliosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000757 | Lack of insight | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000727 | Frontal lobe dementia | 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:0009124 | Abnormality of adipose tissue | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000751 | Personality changes | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001155 | Abnormality of the hand | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000020 | Urinary incontinence | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002135 | Basal ganglia calcification | 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:0010524 | Agnosia | MP:0012727 | abnormal uterine spiral artery remodeling | any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascu |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002079 | Hypoplasia of the corpus callosum | 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:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002072 | Chorea | 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:0003487 | Babinski sign | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002186 | Apraxia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003447 | Axonal loss | MP:0012727 | abnormal uterine spiral artery remodeling | any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascu |
| HP:0000734 | Disinhibition | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002340 | Caudate atrophy | MP:0012727 | abnormal uterine spiral artery remodeling | any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascu |
| Disease ID | 1924 |
|---|---|
| Disease | nasu-hakola disease |
| Case | (Waiting for update.) |