eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| farber disease | ||||
| Disease ID | 275 |
|---|---|
| Disease | farber disease |
| Definition | A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE. |
| Synonym | ac deficiency acid ceramidase deficiencies acid ceramidase deficiency acylsphingosine deacylase deficiency ceramidase deficiencies ceramidase deficiency ceramidase deficiency, acid deficiencies, ceramidase deficiencies, n-laurylsphingosine deacylase deficiency, acid ceramidase deficiency, ceramidase deficiency, n-laurylsphingosine deacylase disease farber s disease farbers disease, farber's diseases, farber's disseminated lipogranulomatosis farber lipogranulomatosis farber lipogranulomatosis [disease/finding] farber's disease farber's diseases farber's lipogranulomatosis farber's lipogranulomatosis (disorder) farber-uzman syndrome farbers disease frbrl lipogranulomatosis, farber n laurylsphingosine deacylase deficiency n-laurylsphingosine deacylase deficiencies n-laurylsphingosine deacylase deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268255 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 340485 | ACER2 | 5.921 | DISEASES 55331 | ACER3 | 5.556 | DISEASES 427 | ASAH1 | 7.396 | DISEASES 56624 | ASAH2 | 3.431 | DISEASES 10715 | CERS1 | 3.173 | DISEASES 9635 | CLCA2 | 2.599 | DISEASES 22802 | CLCA4 | 2.698 | DISEASES 5476 | CTSA | 1.805 | DISEASES 355 | FAS | 1.984 | DISEASES 1316 | KLF6 | 2.146 | DISEASES 4668 | NAGA | 2.679 | DISEASES 54681 | P4HTM | 2.869 | DISEASES 5660 | PSAP | 3.486 | DISEASES 26503 | SLC17A5 | 2.054 | DISEASES 6606 | SMN1 | 1.289 | DISEASES 6607 | SMN2 | 1.369 | DISEASES 6609 | SMPD1 | 2.6 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ASAH1 | 8p22 |
| Disease ID | 275 |
|---|---|
| Disease | farber disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0000639 | Nystagmus HP:0001263 | Global developmental delay HP:0001601 | Laryngomalacia HP:0004322 | Short stature HP:0001615 | Hoarse cry HP:0001482 | Subcutaneous nodule HP:0002205 | Recurrent respiratory infections HP:0002829 | Arthralgia HP:0002206 | Pulmonary fibrosis HP:0010729 | Cherry red spot of the macula HP:0000478 | Abnormality of the eye HP:0003199 | Decreased muscle mass HP:0007957 | Corneal opacity HP:0002093 | Respiratory insufficiency HP:0001386 | Joint swelling HP:0000939 | Osteoporosis HP:0002808 | Kyphosis HP:0001508 | Failure to thrive HP:0002240 | Hepatomegaly HP:0001249 | Intellectual disability HP:0001744 | Splenomegaly HP:0000504 | Abnormality of vision HP:0001387 | Joint stiffness HP:0007470 | Periarticular subcutaneous nodules |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 275 |
|---|---|
| Disease | farber disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1412573 | acid ceramidase deficiency |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853593 | NA | 427 | ASAH1 | umls:C0268255 | CLINVAR | NA | 0.564885954 | NA | ASAH1 | 8 | 18061724 | G | T,C |
| rs137853594 | NA | 427 | ASAH1 | umls:C0268255 | CLINVAR | NA | 0.564885954 | NA | ASAH1 | 8 | 18064501 | T | A |
| rs137853595 | NA | 427 | ASAH1 | umls:C0268255 | CLINVAR | NA | 0.564885954 | NA | ASAH1 | 8 | 18075559 | T | C |
| rs137853596 | NA | 427 | ASAH1 | umls:C0268255 | CLINVAR | NA | 0.564885954 | NA | ASAH1 | 8 | 18059424 | T | C |
| rs137853597 | NA | 427 | ASAH1 | umls:C0268255 | CLINVAR | NA | 0.564885954 | NA | ASAH1 | 8 | 18062383 | G | C |
| rs28934273 | 10610716 | 427 | ASAH1 | umls:C0268255 | UNIPROT | A deficiency in human AC activity leads to the lysosomal storage disorder, Farber disease (FD). | 0.564885954 | 1999 | NA | NA | NA | NA | NA |
| rs397509415 | NA | 427 | ASAH1 | umls:C0268255 | CLINVAR | NA | 0.564885954 | NA | ASAH1 | 8 | 18059568 | T | C |
GWASdb Annotation(Total Genotypes:5) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 8 | 17930999 | rs3753116 | NM_177924,ASAH1 | NM_001127505,ASAH1 | NM_004315,ASAH1 | ENST00000417108,ENSG00000104763 | ENST00000262097,ENSG00000104763 | ENST00000381733,ENSG00000104763 | ENST00000520781,ENSG00000104763 | ENST00000314146,ENSG00000104763 | ENST00000519468,ENSG00000104763 | ENST00000523593,ENSG00000104763 | ENST00000519545,ENSG00000104763 | ENST00000518087,ENSG00000104763 | ENST00000520051,ENSG00000104763 | MCV-3 | TFP.GATA2 | NA | NA | NA | LM139,2.5054 | LM174,11.5557 | LM175,3.7399 | HLF,17.1315 | HLF,1.3871 | NA | NA | NA | NA | NA | NA | 0.001 | 0.065 | 0.225 | GM0 | A | NA |
| 8 | 17935642 | rs7833836 | NM_177924,ASAH1 | NM_001127505,ASAH1 | NM_004315,ASAH1 | ENST00000417108,ENSG00000104763 | ENST00000262097,ENSG00000104763 | ENST00000381733,ENSG00000104763 | ENST00000520781,ENSG00000104763 | ENST00000314146,ENSG00000104763 | ENST00000519468,ENSG00000104763 | ENST00000523593,ENSG00000104763 | ENST00000518087,ENSG00000104763 | ENST00000520051,ENSG00000104763 | MCV-3 | NA | NA | NA | Cep3-primary,2.727 | Cutl1_3494,2.3594 | Cutl1_3494,2.4865 | Cutl1_3494,1.6624 | Hmbox1_2674,1.3104 | NA | NA | NA | NA | NA | NA | 0.011 | 0.250 | 0.999 | GM0 | A | NA | NA | NA |
| 8 | 17936029 | rs13282042 | NM_177924,ASAH1 | NM_001127505,ASAH1 | NM_004315,ASAH1 | ENST00000417108,ENSG00000104763 | ENST00000262097,ENSG00000104763 | ENST00000381733,ENSG00000104763 | ENST00000520781,ENSG00000104763 | ENST00000314146,ENSG00000104763 | ENST00000519468,ENSG00000104763 | ENST00000523593,ENSG00000104763 | ENST00000518087,ENSG00000104763 | ENST00000520051,ENSG00000104763 | NA | NA | NA | NA | Hoxd11_3873,4.4759 | Leu3-primary,1.9523 | Oct-1,1.7437 | Oct-1,3.6138 | Pou2f2_3748,1.7327 | NA | NA | NA | NA | NA | NA | 0.040 | 0.802 | 2.4 | GM0 | A | NA | NA | NA |
| 8 | 17937313 | rs7824280 | NM_177924,ASAH1 | NM_001127505,ASAH1 | NM_004315,ASAH1 | ENST00000417108,ENSG00000104763 | ENST00000262097,ENSG00000104763 | ENST00000381733,ENSG00000104763 | ENST00000520781,ENSG00000104763 | ENST00000314146,ENSG00000104763 | ENST00000519468,ENSG00000104763 | ENST00000523593,ENSG00000104763 | ENST00000518087,ENSG00000104763 | ENST00000520051,ENSG00000104763 | MCV-2 | NA | NA | NA | LM119,15.2266 | LM146,8.6707 | LM170,5.4875 | TBP,24.7092 | TATA-Box,24.7092 | NA | NA | NA | NA | NA | NA | 0.000 | -0.593 | -2.22 | R4 | G | NA | NA | NA |
| 8 | 17937530 | rs11986226 | NM_177924,ASAH1 | NM_001127505,ASAH1 | NM_004315,ASAH1 | ENST00000417108,ENSG00000104763 | ENST00000262097,ENSG00000104763 | ENST00000381733,ENSG00000104763 | ENST00000520781,ENSG00000104763 | ENST00000314146,ENSG00000104763 | ENST00000519468,ENSG00000104763 | ENST00000523593,ENSG00000104763 | ENST00000518087,ENSG00000104763 | ENST00000520051,ENSG00000104763 | MCV-1 | NA | NA | NA | LM149,1.5412 | Hand1-Tcfe2a,2.6377 | GAANYNYGACNY,1.6148 | NA | NA | NA | NA | NA | NA | 0.000 | -1.053 | -3.92 | GM0 | G | NA | NA | NA | 0.330 | 0.230 |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| 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 |
| 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: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:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| 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:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0010729 | Cherry red spot of the macula | MP:0005060 | accumulation of giant lysosomes in kidney/renal tubule cells | buildup of contents in lysosomes in cells of the kidney tubules |
| 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: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:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0003199 | Decreased muscle mass | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | 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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007470 | Periarticular subcutaneous nodules | MP:0012232 | abnormal ceramide level | |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001615 | Hoarse cry | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001601 | Laryngomalacia | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| 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:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010729 | Cherry red spot of the macula | 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: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:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0000639 | Nystagmus | 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:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| 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:0001387 | Joint stiffness | 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:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 275 |
|---|---|
| Disease | farber disease |
| Case | (Waiting for update.) |