Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: klick syndrome
Number of Symptoms 15
OrphanetNr: 281201
OMIM Id: 601952
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant diffuse mutilating palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease
Inherited ichthyosis nonsyndromic form
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
2
 (HPO:0009775) Amniotic constriction ring 21 / 7739
3
 (HPO:0007465) Honeycomb palmoplantar keratoderma 2 / 7739
4
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
5
 (HPO:0008404) Nail dystrophy 89 / 7739
6
 (HPO:0001795) Hyperconvex nail 13 / 7739
7
 (HPO:0007490) Linear arrays of macular hyperkeratoses in flexural areas 1 / 7739
8
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
9
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
10
 (HPO:0001036) Parakeratosis 12 / 7739
11
 (OMIM) Mild superficial perivascular lymphohistiocytic infiltrates 1 / 7739
12
 (OMIM) Numerous large keratohyaline granules in superficial keratinocytes 1 / 7739
13
 (OMIM) Nail dystrophy with overcurvature 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Acanthosis with hypergranulosis and hyperkeratosis in affected skin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pujol et al. (1989) described 4 Spanish sibs with an autosomal recessive keratinizing disorder thought to represent an entity that should be classified among congenital syndromes. The most striking feature of the patients' skin was the early appearance ...
Molecular genetics OMIM In 12 patients from 8 European families with KLICK syndrome mapping to chromosome 13q, Dahlqvist et al. (2010) analyzed candidate genes and identified homozygosity for a 1-bp deletion in the POMP gene (613386.0001). Segregation analysis showed that the ...