Haim-Munk Syndrome(Keratosis palmoplantaris with periodontopathia and onychogryposis) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Skin 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 | CTSC/1075 | cathepsin C | 11q14.2 | Chr11, NC_000011.10 (88293592..88337736, complement) |
44145 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |