MCID: KRT038
MIFTS: 22

Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma

Categories: Genetic diseases, Skin diseases, Rare 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 75 37 29 13 6 40 73
Klick Syndrome 57 59 75
Klick 57 75
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome 59
Klick Genodermatosis 75

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
Orphanet 59 ORPHA281201
UMLS via Orphanet 74 C1866029
ICD10 via Orphanet 34 Q82.8
MedGen 42 C1866029
MeSH 44 D007642
KEGG 37 H00790
UMLS 73 C1866029

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

UniProtKB/Swiss-Prot : 75 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 palmoplantar keratoderma and ichthyosis

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 keratosis 10.3
2 ichthyosis 10.3
3 hypotrichosis simplex 9.9
4 woolly hair syndrome 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
ichthyosis, congenital, nonblistering
linear arrays of macular hyperkeratoses in flexural areas
honeycomb palmoplantar keratoderma
pseudoainhum

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

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

Skin Nails Hair Nails:
nail dystrophy with overcurvature


Clinical features from OMIM:

601952

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

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 Year
1
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:

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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