KLICK
MCID: KRT038
MIFTS: 25

Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (KLICK)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

MalaCards integrated aliases for Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:

Name: Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 57 74 37 29 13 6 40 72
Klick Syndrome 57 59 74
Klick 57 74
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome 59
Klick Genodermatosis 74

Characteristics:

Orphanet epidemiological data:

59
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
keratosis linearis with ichthyosis congenita and sclerosing keratoderma:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 601952
KEGG 37 H00790
MeSH 44 D007642
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C1866029
Orphanet 59 ORPHA281201
MedGen 42 C1866029
UMLS 72 C1866029

Summaries for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

UniProtKB/Swiss-Prot : 74 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma: A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer.

MalaCards based summary : Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma, also known as klick syndrome, is related to keratosis and ichthyosis. An important gene associated with Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma is POMP (Proteasome Maturation Protein), and among its related pathways/superpathways is Proteasome. Affiliated tissues include skin, and related phenotypes are ichthyosis and palmoplantar keratoderma

KEGG : 37
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre linear hyperkeratotic papules on the flexural side of large joints. There is no associated systemic involvement. The disease is inherited as an autosomal-recessive trait.

Wikipedia : 75 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome (KLICK syndrome) is a... more...

More information from OMIM: 601952

Related Diseases for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Diseases related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 keratosis 10.7
2 ichthyosis 10.7
3 palmoplantar keratosis 10.7
4 ichthyosis lamellar 1 10.7
5 autosomal recessive disease 10.5
6 skin disease 10.5
7 pseudoainhum 10.5
8 erythrokeratoderma ''en cocardes'' 10.3
9 squamous cell carcinoma 10.1
10 hypotrichosis 10.1
11 hypotrichosis simplex 10.1
12 woolly hair syndrome 10.1
13 erythrokeratoderma 10.1

Graphical network of the top 20 diseases related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:



Diseases related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma

Symptoms & Phenotypes for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Human phenotypes related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 parakeratosis 32 HP:0001036
4 nail dystrophy 32 HP:0008404
5 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
6 hyperconvex nail 32 HP:0001795
7 amniotic constriction ring 32 HP:0009775
8 honeycomb palmoplantar keratoderma 32 HP:0007465
9 linear arrays of macular hyperkeratoses in flexural areas 32 HP:0007490

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
parakeratosis
acanthosis with hypergranulosis and hyperkeratosis in affected skin
mild superficial perivascular lymphohistiocytic infiltrates

Skin Nails Hair Skin Electron Microscopy:
numerous large keratohyaline granules in superficial keratinocytes

Skin Nails Hair Skin:
honeycomb palmoplantar keratoderma
linear arrays of macular hyperkeratoses in flexural areas
pseudoainhum
ichthyosis, congenital, nonblistering

Skin Nails Hair Nails:
nail dystrophy with overcurvature

Clinical features from OMIM:

601952

Drugs & Therapeutics for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Search Clinical Trials , NIH Clinical Center for Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma

Genetic Tests for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Genetic tests related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:

# Genetic test Affiliating Genes
1 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 29 POMP

Anatomical Context for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

MalaCards organs/tissues related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:

41
Skin

Publications for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Articles related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:

# Title Authors PMID Year
1
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. 38 8 71
20226437 2010
2
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation? 38 8
9188877 1997
3
Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma. 8
2521286 1989
4
KLICK syndrome: an unusual phenotype. 38
29315485 2018
5
KLICK syndrome: recognizable phenotype and hot-spot POMP mutation. 38
27503413 2017
6
Do you know this syndrome? 38
21738991 2011
7
[Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome)]. 38
16956569 2006
8
A new type of erythrokeratoderma, or KLICK syndrome? 38
16086778 2005

Variations for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

ClinVar genetic disease variations for Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POMP NM_015932.5(POMP): c.-95del deletion Pathogenic rs112368783 13:29233227-29233227 13:28659090-28659090

Expression for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Search GEO for disease gene expression data for Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma.

Pathways for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Pathways related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma according to KEGG:

37
# Name Kegg Source Accession
1 Proteasome hsa03050

GO Terms for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

Sources for Keratosis Linearis with Ichthyosis Congenita and Sclerosing...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....