eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| alpha-mannosidosis | ||||
| Disease ID | 690 |
|---|---|
| Disease | alpha-mannosidosis |
| Definition | An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead. |
| Synonym | alpha mannosidase b deficiency alpha mannosidase deficiency alpha mannosidosis alpha-d-mannosidase deficiencies, lysosomal alpha-d-mannosidase deficiency, lysosomal alpha-d-mannosidosis alpha-mannosidase b deficiency alpha-mannosidase deficiencies alpha-mannosidase deficiency alpha-mannosidoses alpha-mannosidosis [disease/finding] alpha-mannosidosis, type i deficiencies, alpha-mannosidase deficiencies, lysosomal alpha-d-mannosidase deficiency of alpha-mannosidase deficiency of alpha-mannosidase (disorder) deficiency, alpha-mannosidase deficiency, lysosomal alpha-d-mannosidase lysosomal alpha b mannosidosis lysosomal alpha d mannosidase deficiency lysosomal alpha-d-mannosidase deficiencies lysosomal alpha-d-mannosidase deficiency mannosidosis mannosidosis, alpha b lysosomal mannosidosis, alpha b, lysosomal mansa |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0024748 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | (Waiting for update.) |
| Disease ID | 690 |
|---|---|
| Disease | alpha-mannosidosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:42) HP:0001263 | Global developmental delay HP:0000470 | Short neck HP:0011039 | Abnormality of the helix HP:0006487 | Bowing of the long bones HP:0000518 | Cataract HP:0008821 | Hypoplastic inferior ilia HP:0000336 | Prominent supraorbital ridges HP:0000365 | Hearing impairment HP:0005280 | Depressed nasal bridge HP:0002205 | Recurrent respiratory infections HP:0002652 | Skeletal dysplasia HP:0000303 | Mandibular prognathia HP:0000316 | Hypertelorism HP:0000158 | Macroglossia HP:0002516 | Increased intracranial pressure HP:0011354 | Generalized abnormality of skin HP:0000708 | Behavioral abnormality HP:0005978 | Type II diabetes mellitus HP:0007957 | Corneal opacity HP:0000256 | Macrocephaly HP:0002650 | Scoliosis HP:0000389 | Chronic otitis media HP:0002808 | Kyphosis HP:0004493 | Craniofacial hyperostosis HP:0002240 | Hepatomegaly HP:0100240 | Synostosis of joints HP:0000023 | Inguinal hernia HP:0001249 | Intellectual disability HP:0001744 | Splenomegaly HP:0001385 | Hip dysplasia HP:0001369 | Arthritis HP:0010807 | Open bite HP:0002750 | Delayed skeletal maturation HP:0000738 | Hallucinations HP:0000400 | Macrotia HP:0000687 | Widely spaced teeth HP:0000280 | Coarse facial features HP:0010885 | Aseptic necrosis HP:0000212 | Gingival overgrowth HP:0001252 | Muscular hypotonia HP:0000189 | Narrow palate HP:0000689 | Dental malocclusion |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 690 |
|---|---|
| Disease | alpha-mannosidosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| 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:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434331 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12649418 | G | A |
| rs121434332 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12652376 | G | A |
| rs121434333 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12658470 | G | C |
| rs387906261 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1;WDR83 | 19 | 12665750 | T | G,A |
| rs775200333 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12657482 | G | A,C,T |
| rs786204715 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12658428 | C | T |
| rs797044680 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12649169 | - | C |
| rs80338677 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12655693 | C | G |
| rs80338678 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12652462 | T | C |
| rs80338679 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12650103 | C | T |
| rs80338680 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12649932 | G | T,A |
| rs80338681 | NA | 4125 | MAN2B1 | umls:C0024748 | CLINVAR | NA | 0.443528744 | NA | MAN2B1 | 19 | 12649146 | A | G |
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:0011039 | Abnormality of the helix | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0000689 | Dental malocclusion | MP:0000120 | malocclusion | perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth |
| HP:0000687 | Widely spaced teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0006487 | Bowing of the long bones | 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:0000389 | Chronic otitis media | MP:0001850 | increased susceptibility to otitis media | greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection |
| HP:0100240 | Synostosis of joints | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0000189 | Narrow palate | MP:0009653 | abnormal palate development | abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:41) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001385 | Hip dysplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000689 | Dental malocclusion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0004493 | Craniofacial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000212 | Gingival overgrowth | 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:0011039 | Abnormality of the helix | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000687 | Widely spaced teeth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100240 | Synostosis of joints | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000518 | Cataract | 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:0000189 | Narrow palate | 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:0008821 | Hypoplastic inferior ilia | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| 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:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000336 | Prominent supraorbital ridges | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010807 | Open bite | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000738 | Hallucinations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000389 | Chronic otitis media | 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:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 690 |
|---|---|
| Disease | alpha-mannosidosis |
| Case | (Waiting for update.) |