Beaded Hair(Monilethrix) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Hair disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Hair disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | KRT83/3889 | keratin 83 | 12q13.13 | Chr12, NC_000012.12 (52314301..52321398, complement) |
7098 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KRT81/3887 | keratin 81 | 12q13.13 | Chr12, NC_000012.12 (52285913..52308624, complement) |
22712 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KRT86/3892 | keratin 86 | 12q13.13 | Chr12, NC_000012.12 (52274645..52309163) |
34519 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |