Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Synonyms: KLICK syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | KLICK syndrome |
| fr | Syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante | Syndrome KLICK |
| de | Keratosis linearis-Ichthyosis congenita-sklerosierendes Keratoderm-Syndrom | KLICK-Syndrom |
| es | Síndrome de queratosis linear-ictiosis congénita-queratodermia esclerosante | Síndrome KLICK |
| it | Cheratosi lineare - ittiosi congenita - cheratoderma sclerosante | Sindrome KLICK |
| nl | Keratosis linearis - ichthyosis congenita - scleroserende keratodermie-syndroom | KLICK-syndroom |
| pt | Síndrome de queratose linear-ictiose congénita-queratodermia esclerosante | Síndrome KLICK |
| pl | Zespół rogowacenie linijne-rybia łuska wrodzona-rogowiec twardzinowy | Zespół KLICK |
| cs | Syndrom zahrnující keratosis linearis, ichtyosis congenita a sklerozující keratodermu | KLICK syndrom |
| uk | Синдром лінійного кератозу-вродженого іхтіозу- склерозуючої кератодермії | Синдром KLICK |
| zh | 线状角化症-先天性鱼鳞病-硬化性角化皮病综合征 | KLICK综合征 |
| tr | Keratoz linearis-iktiyoz konjenita-sklerozan keratoderma sendromu | KLICK sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601952 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.0Y | NTBT | index | validated |
| MONDO | 0011169 | E | validated | |
| MeSH | C566600 | E | validated | |
| UMLS | C1866029 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:307773Autosomal dominant diffuse mutilating palmoplantar keratoderma
rare genetic diseases; rare skin diseases - ORPHA:281082Inherited non-syndromic ichthyosis
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POMP | Disease-causing germline mutation(s) in | Assessed | HGNC:20330 | ENSG00000132963 | 613386 | 13q12.3 | proteasome maturation protein | 20226437[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008064 | Ichthyosis | |
| HP:0000982 | Palmoplantar keratoderma | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281201
- This record as JSON: /data/d/281201.json