eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chanarin-dorfman syndrome | ||||
| Disease ID | 797 |
|---|---|
| Disease | chanarin-dorfman syndrome |
| Synonym | chanarin-dorfman disease chanarin-miranda syndrome dorfman chanarin syndrome dorfman-chanarin syndrome ichthyosiform erythroderma with leucocyte vacuolation ichthyosiform erythroderma with leukocyte vacuolation ichthyotic neutral lipid storage disease lipid storage myopathy and congenital ichthyosis neutral lipid storage disease neutral lipid storage disease with ichthyosis neutral lipid storage myopathy nlsdi triglyceride storage disease with ichthyosis triglyceride storage disease with ichthyosis (disorder) triglyceride storage disease with impaired long-chain fatty acid oxidation |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268238 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0026848 | myopathy | 21 C0020757 | ichthyosis | 11 C0023890 | cirrhosis | 2 C0878544 | cardiomyopathy | 1 C0023890 | liver cirrhosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:25) 26090 | ABHD12 | 2.847 | DISEASES 63874 | ABHD4 | 4.638 | DISEASES 51099 | ABHD5 | 7.68 | DISEASES 37 | ACADVL | 1.952 | DISEASES 10555 | AGPAT2 | 1.969 | DISEASES 224 | ALDH3A2 | 3.048 | DISEASES 158833 | AWAT1 | 3.726 | DISEASES 1376 | CPT2 | 2.923 | DISEASES 8694 | DGAT1 | 1.872 | DISEASES 1798 | DPAGT1 | 1.706 | DISEASES 2027 | ENO3 | 2.392 | DISEASES 2108 | ETFA | 2.332 | DISEASES 2109 | ETFB | 3.161 | DISEASES 2110 | ETFDH | 4.533 | DISEASES 2170 | FABP3 | 1.213 | DISEASES 2707 | GJB3 | 2.084 | DISEASES 127534 | GJB4 | 2.744 | DISEASES 2710 | GK | 2.433 | DISEASES 5650 | KLK7 | 1.935 | DISEASES 65018 | PINK1 | 1.105 | DISEASES 11145 | PLA2G16 | 2.282 | DISEASES 8398 | PLA2G6 | 1.778 | DISEASES 57104 | PNPLA2 | 6.999 | DISEASES 10908 | PNPLA6 | 1.668 | DISEASES 7485 | WRB | 2.611 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 797 |
|---|---|
| Disease | chanarin-dorfman syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0001871 | Abnormality of blood and blood-forming tissues HP:0000639 | Nystagmus HP:0001596 | Hair loss HP:0002240 | Enlarged liver HP:0000486 | Squint eyes HP:0003198 | Myopathic changes HP:0001251 | Ataxia HP:0000656 | Ectropion HP:0000523 | Subcapsular cataract HP:0000407 | sensorineural hearing loss HP:0001324 | Muscular weakness HP:0001397 | Hepatic steatosis HP:0000232 | Everted prominent lower lip HP:0008551 | Hypoplasia of the external ear HP:0001249 | Mental retardation HP:0007479 | Nonbullous congenital ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0003198 | Myopathic changes | 21 HP:0008064 | Ichthyosis | 12 HP:0001394 | Hepatic cirrhosis | 2 HP:0001397 | Hepatic steatosis | 1 HP:0001638 | Cardiomyopathy | 1 |
| Disease ID | 797 |
|---|---|
| Disease | chanarin-dorfman syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0020758 | ichthyosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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 |
| rs104893675 | NA | 51099 | ABHD5 | umls:C0268238 | CLINVAR | NA | 0.566243163 | NA | ABHD5 | 3 | 43699326 | C | G |
| rs104893676 | 11590543 | 51099 | ABHD5 | umls:C0268238 | UNIPROT | Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. | 0.566243163 | 2001 | ABHD5;ANO10 | 3 | 43691011 | G | A |
| rs28939077 | 18606822 | 51099 | ABHD5 | umls:C0268238 | UNIPROT | CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. | 0.566243163 | 2008 | ABHD5 | 3 | 43702470 | A | C |
| rs28939077 | NA | 51099 | ABHD5 | umls:C0268238 | CLINVAR | NA | 0.566243163 | NA | ABHD5 | 3 | 43702470 | A | C |
| rs28939078 | NA | 51099 | ABHD5 | umls:C0268238 | CLINVAR | NA | 0.566243163 | NA | ABHD5 | 3 | 43717675 | G | A |
| rs28939078 | 18606822 | 51099 | ABHD5 | umls:C0268238 | UNIPROT | CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. | 0.566243163 | 2008 | ABHD5 | 3 | 43717675 | G | A |
| rs387906335 | NA | 51099 | ABHD5 | umls:C0268238 | CLINVAR | NA | 0.566243163 | NA | ABHD5 | 3 | 43711796 | - | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001871 | Abnormality of blood and blood-forming tissues | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000523 | Subcapsular cataract | MP:0001304 | cataract | complete or partial opacity of the lens |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000523 | Subcapsular cataract | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000407 | Sensorineural hearing impairment | 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:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0000656 | Ectropion | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0001397 | Hepatic steatosis | 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:0007479 | Congenital nonbullous ichthyosiform erythroderma | MP:0012734 | abnormal response to radiation | any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays |
| 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:0000486 | Strabismus | 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:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0008551 | Microtia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001871 | Abnormality of blood and blood-forming tissues | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 797 |
|---|---|
| Disease | chanarin-dorfman syndrome |
| Case | (Waiting for update.) |