eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| monilethrix | ||||
| Disease ID | 509 |
|---|---|
| Disease | monilethrix |
| Definition | Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix. |
| Synonym | (congenital monilethrix) or (beaded hair) (congenital monilethrix) or (beaded hair) (disorder) beaded hair beaded hair (disorder) beaded hair (finding) beading hair congenital beaded hair congenital monilethrix hair beaded hair, nodose hairs, nodose mnlix monilethrices monilethrix [disease/finding] nodose hair nodose hairs |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0546966 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 147495 | APCDD1 | 4.013 | DISEASES 488 | ATP2A2 | 1.76 | DISEASES 1041 | CDSN | 1.33 | DISEASES 147409 | DSG4 | 6.286 | DISEASES 2335 | FN1 | 1.54 | DISEASES 3713 | IVL | 1.463 | DISEASES 3853 | KRT6A | 4.331 | DISEASES 3887 | KRT81 | 6.189 | DISEASES 3892 | KRT86 | 7.511 | DISEASES 10161 | LPAR6 | 3.347 | DISEASES 26151 | NAT9 | 2.084 | DISEASES 5339 | PLEC | 2.019 | DISEASES 54101 | RIPK4 | 3.192 | DISEASES 6331 | SCN5A | 1.353 | DISEASES 6635 | SNRPE | 2.693 | DISEASES 7062 | TCHH | 2.137 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 509 |
|---|---|
| Disease | monilethrix |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0001597 | Abnormality of the nail HP:0000518 | Cataract HP:0001006 | Hypotrichosis HP:0100543 | Cognitive impairment HP:0100753 | Schizophrenia HP:0002217 | Slow-growing hair HP:0002213 | Fine hair HP:0000499 | Abnormality of the eyelashes HP:0000164 | Abnormality of the teeth HP:0007502 | Follicular hyperkeratosis HP:0002299 | Brittle hair HP:0002232 | Patchy alopecia HP:0000534 | Abnormality of the eyebrow HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 509 |
|---|---|
| Disease | monilethrix |
| Manually Symptom | (Waiting for update.) |
| 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909129 | 12771477 | 3892 | KRT86 | umls:C0546966 | BeFree | Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. | 0.36434307 | 2003 | KRT81;KRT86 | 12 | 52306270 | G | A |
| rs28939669 | 10594761 | 3892 | KRT86 | umls:C0546966 | UNIPROT | Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. | 0.36434307 | 1999 | NA | NA | NA | NA | NA |
| rs56821304 | 9665406 | 3887 | KRT81 | umls:C0546966 | UNIPROT | A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. | 0.360814326 | 1998 | KRT81;KRT86 | 12 | 52287145 | C | T,G |
| rs57419521 | 9402962 | 3887 | KRT81 | umls:C0546966 | UNIPROT | A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. | 0.360814326 | 1997 | KRT81;KRT86 | 12 | 52287112 | C | T |
| rs57419521 | 12771477 | 3892 | KRT86 | umls:C0546966 | BeFree | Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. | 0.36434307 | 2003 | KRT81;KRT86 | 12 | 52287112 | C | T |
| rs57802288 | NA | 3889 | KRT83 | umls:C0546966 | CLINVAR | NA | 0.480542884 | NA | KRT83 | 12 | 52315936 | C | T |
| rs60687604 | 10469314 | 3892 | KRT86 | umls:C0546966 | BeFree | Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. | 0.36434307 | 1999 | KRT81;KRT86 | 12 | 52306237 | G | A,C |
| rs61091894 | 10469314 | 3892 | KRT86 | umls:C0546966 | BeFree | Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. | 0.36434307 | 1999 | KRT81;KRT86 | 12 | 52302256 | A | C,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002232 | Patchy alopecia | MP:0000414 | alopecia | absence of hair due to loss of hair; not in reference to primary genetic hairlessness but may be due to dietary, stress or secondary to immune condition |
| HP:0007502 | Follicular hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
| HP:0000534 | Abnormality of the eyebrow | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0002299 | Brittle hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| 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:0002217 | Slow-growing hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| 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:0000499 | Abnormality of the eyelashes | 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 |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0007502 | Follicular hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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: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:0001006 | Hypotrichosis | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0002232 | Patchy alopecia | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0000499 | Abnormality of the eyelashes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0002299 | Brittle hair | 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:0002217 | Slow-growing hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0000534 | Abnormality of the eyebrow | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100753 | Schizophrenia | 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 |
| Disease ID | 509 |
|---|---|
| Disease | monilethrix |
| Case | (Waiting for update.) |