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 56 73 36 29 13 6 39 71
Klick Syndrome 56 58 73
Klick 56 73
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome 58
Klick Genodermatosis 73

Characteristics:

Orphanet epidemiological data:

58
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
keratosis linearis with ichthyosis congenita and sclerosing keratoderma:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 601952
KEGG 36 H00790
MeSH 43 D007642
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1866029
Orphanet 58 ORPHA281201
MedGen 41 C1866029
UMLS 71 C1866029

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

UniProtKB/Swiss-Prot : 73 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 : 36 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.

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 15)
# 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'' 10.2
9 proteasome-associated autoinflammatory syndrome 2 10.1
10 familial woolly hair syndrome 10.1
11 squamous cell carcinoma 10.1
12 hypotrichosis 10.1
13 hypotrichosis simplex 10.1
14 erythrokeratoderma 10.1
15 autoinflammatory syndrome 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:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 nail dystrophy 31 HP:0008404
4 hyperconvex nail 31 HP:0001795
5 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
6 amniotic constriction ring 31 HP:0009775
7 honeycomb palmoplantar keratoderma 31 HP:0007465
8 parakeratosis 31 HP:0001036
9 linear arrays of macular hyperkeratoses in flexural areas 31 HP:0007490

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
honeycomb palmoplantar keratoderma
linear arrays of macular hyperkeratoses in flexural areas
pseudoainhum
ichthyosis, congenital, nonblistering

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

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

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:

40
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. 61 56 6
20226437 2010
2
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation? 61 56
9188877 1997
3
Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma. 56
2521286 1989
4
KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. 61
32425927 2020
5
KLICK syndrome: an unusual phenotype. 61
29315485 2018
6
KLICK syndrome: recognizable phenotype and hot-spot POMP mutation. 61
27503413 2017
7
Do you know this syndrome? 61
21738991 2011
8
[Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome)]. 61
16956569 2006
9
A new type of erythrokeratoderma, or KLICK syndrome? 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMP NM_015932.5(POMP):c.-95deldeletion Pathogenic 116 rs112368783 13:29233226-29233226 13:28659089-28659089

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:

36
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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