eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multiple carboxylase deficiency | ||||
| Disease ID | 660 |
|---|---|
| Disease | multiple carboxylase deficiency |
| Definition | A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. |
| Synonym | carboxylase defic combined carboxylase defic multiple carboxylase deficiencies, combined carboxylase deficiencies, multiple carboxylase deficiency, combined carboxylase deficiency, multiple combined carboxylase defic combined carboxylase deficiencies combined carboxylase deficiency defic combined carboxylase defic multiple carboxylase deficiencies, combined carboxylase deficiencies, multiple carboxylase deficiency, combined carboxylase deficiency, multiple carboxylase multiple carboxylase defic multiple carboxylase deficiencies multiple carboxylase deficiency (disorder) multiple carboxylase deficiency [disease/finding] |
| Orphanet | |
| DOID | |
| UMLS | C0026755 |
| MeSH | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:24) 95 | ACY1 | 3.037 | DISEASES 538 | ATP7A | 1.18 | DISEASES 875 | CBS | 2.022 | DISEASES 1056 | CEL | 2.509 | DISEASES 1644 | DDC | 1.719 | DISEASES 8890 | EIF2B4 | 3.554 | DISEASES 2010 | EMD | 1.662 | DISEASES 2108 | ETFA | 2.507 | DISEASES 2170 | FABP3 | 1.388 | DISEASES 2271 | FH | 1.866 | DISEASES 3033 | HADH | 2.09 | DISEASES 3141 | HLCS | 7.419 | DISEASES 3155 | HMGCL | 4.281 | DISEASES 3712 | IVD | 1.562 | DISEASES 3980 | LIG3 | 2.677 | DISEASES 4000 | LMNA | 1.125 | DISEASES 64087 | MCCC2 | 3.477 | DISEASES 219541 | MED19 | 2.828 | DISEASES 5091 | PC | 3.541 | DISEASES 5096 | PCCB | 2.586 | DISEASES 6120 | RPE | 3.303 | DISEASES 10165 | SLC25A13 | 3.926 | DISEASES 788 | SLC25A20 | 3.448 | DISEASES 7311 | UBA52 | 2.5 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 660 |
|---|---|
| Disease | multiple carboxylase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000988 | Skin rash HP:0001263 | Global developmental delay HP:0001250 | Seizures HP:0000504 | Abnormality of vision HP:0001596 | Alopecia HP:0200037 | Skin vesicle HP:0100533 | Inflammatory abnormality of the eye HP:0100543 | Cognitive impairment HP:0001254 | Lethargy HP:0000364 | Hearing abnormality HP:0002715 | Abnormality of the immune system HP:0000365 | Hearing impairment HP:0001824 | Weight loss HP:0002017 | Nausea and vomiting HP:0001252 | Muscular hypotonia HP:0001595 | Abnormality of the hair HP:0008066 | Abnormal blistering of the skin HP:0000478 | Abnormality of the eye |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0001941 | acidemia | 1 HP:0001252 | Hypotonia | 1 HP:0001942 | Metabolic acidosis | 1 HP:0001259 | Coma | 1 HP:0001250 | Seizures | 1 |
| Disease ID | 660 |
|---|---|
| Disease | multiple carboxylase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0002170 | alopecia |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002715 | Abnormality of the immune system | 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:0100533 | Inflammatory 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:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| 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: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: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:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| 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:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002715 | Abnormality of the immune system | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100533 | Inflammatory abnormality of the eye | 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:0008066 | Abnormal blistering of the skin | 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:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200037 | Skin vesicle | 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:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 660 |
|---|---|
| Disease | multiple carboxylase deficiency |
| Case | (Waiting for update.) |