KLICK
MCID: KRT038
MIFTS: 24

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 58 76 38 30 13 6 41 74
Klick Syndrome 58 60 76
Klick 58 76
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome 60
Klick Genodermatosis 76

Characteristics:

Orphanet epidemiological data:

60
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
keratosis linearis with ichthyosis congenita and sclerosing keratoderma:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 601952
KEGG 38 H00790
MeSH 45 D007642
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1866029
Orphanet 60 ORPHA281201
MedGen 43 C1866029
UMLS 74 C1866029

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

UniProtKB/Swiss-Prot : 76 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 autosomal recessive disease and keratosis. 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

Wikipedia : 77 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome (KLICK syndrome) is a... more...

Description 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:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 10.5
2 keratosis 10.5
3 ichthyosis 10.5
4 hypotrichosis 10.0
5 hypotrichosis simplex 10.0
6 woolly hair syndrome 10.0

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:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 parakeratosis 33 HP:0001036
4 nail dystrophy 33 HP:0008404
5 congenital nonbullous ichthyosiform erythroderma 33 HP:0007479
6 hyperconvex nail 33 HP:0001795
7 amniotic constriction ring 33 HP:0009775
8 honeycomb palmoplantar keratoderma 33 HP:0007465
9 linear arrays of macular hyperkeratoses in flexural areas 33 HP:0007490

Symptoms via clinical synopsis from OMIM:

58
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
pseudoainhum
ichthyosis, congenital, nonblistering
linear arrays of macular hyperkeratoses in flexural areas

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 30 POMP

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

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

42
Skin

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

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

# Title Authors Year
1
KLICK syndrome: an unusual phenotype. ( 29315485 )
2018
2
KLICK syndrome: recognizable phenotype and hot-spot POMP mutation. ( 27503413 )
2017
3
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. ( 20226437 )
2010
4
A new type of erythrokeratoderma, or KLICK syndrome? ( 16086778 )
2005
5
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation? ( 9188877 )
1997

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 Assembly Location
1 POMP NM_015932.5(POMP): c.-95delC deletion Pathogenic rs112368783 GRCh37 Chromosome 13, 29233227: 29233227
2 POMP NM_015932.5(POMP): c.-95delC deletion Pathogenic rs112368783 GRCh38 Chromosome 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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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