eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fucosidosis | ||||
| Disease ID | 498 |
|---|---|
| Disease | fucosidosis |
| Definition | An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31) |
| Synonym | a-fucosidase deficiency alpha fucosidase defic dis alpha fucosidase deficiency alpha fucosidase deficiency disease alpha l fucosidase defic dis alpha l fucosidase deficiency disease alpha-fucosidase deficiency alpha-fucosidase deficiency disease alpha-fucosidase deficiency diseases alpha-l-fucosidase deficiency alpha-l-fucosidase deficiency disease alpha-l-fucosidase deficiency diseases defic dis alpha fucosidase defic dis alpha l fucosidase deficiency disease, alpha fucosidase deficiency disease, alpha l fucosidase deficiency disease, alpha-fucosidase deficiency disease, alpha-l-fucosidase deficiency disease, fucosidase deficiency diseases, alpha-fucosidase deficiency diseases, alpha-l-fucosidase deficiency diseases, fucosidase disease, alpha-fucosidase deficiency disease, alpha-l-fucosidase deficiency disease, fucosidase deficiency diseases, alpha-fucosidase deficiency diseases, alpha-l-fucosidase deficiency diseases, fucosidase deficiency fucosidase defic dis fucosidase deficiency fucosidase deficiency disease fucosidase deficiency diseases fucosidosis (disorder) fucosidosis [disease/finding] fucosidosis, nos |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0016788 |
| MeSH | |
| 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 | Entrez_id | Symbol | Score | Resource(Total Genes:20) 1201 | CLN3 | 2.442 | DISEASES 1203 | CLN5 | 2.338 | DISEASES 5476 | CTSA | 5.13 | DISEASES 2517 | FUCA1 | 7.234 | DISEASES 2526 | FUT4 | 1.102 | DISEASES 2632 | GBE1 | 3.274 | DISEASES 3052 | HCCS | 1.545 | DISEASES 3109 | HLA-DMB | 2.363 | DISEASES 3482 | IGF2R | 1.913 | DISEASES 3916 | LAMP1 | 1.561 | DISEASES 3963 | LGALS7 | 1.9 | DISEASES 4099 | MAG | 1.607 | DISEASES 25834 | MGAT4C | 2.373 | DISEASES 10724 | MGEA5 | 1.064 | DISEASES 4668 | NAGA | 4.682 | DISEASES 93377 | OPALIN | 4.05 | DISEASES 54681 | P4HTM | 2.801 | DISEASES 80012 | PHC3 | 2.883 | DISEASES 5268 | SERPINB5 | 1.499 | DISEASES 26503 | SLC17A5 | 3.033 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FUCA1 | 1p36.11 |
| Disease ID | 498 |
|---|---|
| Disease | fucosidosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:31) HP:0008430 | Anterior beaking of lumbar vertebrae HP:0001263 | Global developmental delay HP:0010864 | Intellectual disability, severe HP:0007256 | Abnormal pyramidal signs HP:0011276 | Vascular skin abnormality HP:0000943 | Dysostosis multiplex HP:0000365 | Hearing impairment HP:0000248 | Brachycephaly HP:0001257 | Spasticity HP:0000164 | Abnormality of the teeth HP:0001640 | Cardiomegaly HP:0100578 | Lipoatrophy HP:0001250 | Seizures HP:0003199 | Decreased muscle mass HP:0000975 | Hyperhidrosis HP:0007957 | Corneal opacity HP:0005595 | Generalized hyperkeratosis HP:0001999 | Abnormal facial shape HP:0002808 | Kyphosis HP:0001508 | Failure to thrive HP:0002240 | Hepatomegaly HP:0005264 | Abnormality of the gallbladder HP:0002510 | Spastic tetraplegia HP:0001597 | Abnormality of the nail HP:0001626 | Abnormality of the cardiovascular system HP:0008155 | Mucopolysacchariduria HP:0000280 | Coarse facial features HP:0001063 | Acrocyanosis HP:0001252 | Muscular hypotonia HP:0011220 | Prominent forehead HP:0000821 | Hypothyroidism |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 498 |
|---|---|
| Disease | fucosidosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118204450 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23845837 | G | A |
| rs587779398 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23865551 | G | A |
| rs587779399 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23854539 | G | A |
| rs794727774 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23848684 | C | T |
| rs80358195 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23848671 | C | G,A |
| rs80358196 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23868043 | G | A |
| rs80358197 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23848649 | C | T |
| rs80358198 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23863148 | G | T,A |
| rs80358199 | NA | 2517 | FUCA1 | umls:C0016788 | CLINVAR | NA | 0.481357209 | NA | FUCA1 | 1 | 23846105 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| 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:0001999 | Abnormal facial shape | 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:0001626 | Abnormality of the cardiovascular system | 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 |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| 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: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:0008430 | Anterior beaking of lumbar vertebrae | MP:0008151 | increased diameter of long bones | increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0003199 | Decreased muscle mass | MP:0009404 | centrally nucleated skeletal muscle fibers | cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| 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:0001640 | Cardiomegaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0003199 | Decreased muscle mass | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005595 | Generalized hyperkeratosis | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| 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:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002510 | Spastic tetraplegia | 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:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| 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:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011220 | Prominent forehead | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008155 | Mucopolysacchariduria | 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:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0005264 | Abnormality of the gallbladder | MP:0010180 | increased susceptibility to weight loss | greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment |
| HP:0008430 | Anterior beaking of lumbar vertebrae | MP:0011473 | increased urine glycosaminoglycan level | greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000943 | Dysostosis multiplex | 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 |
| Disease ID | 498 |
|---|---|
| Disease | fucosidosis |
| Case | (Waiting for update.) |