IHCM
MCID: ICH046
MIFTS: 20

Ichthyosis Histrix, Curth-Macklin Type (IHCM) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Histrix, Curth-Macklin Type

Aliases & Descriptions for Ichthyosis Histrix, Curth-Macklin Type:

Name: Ichthyosis Histrix, Curth-Macklin Type 54 13
Ichthyosis Hystrix, Curth-Macklin Type 54 56 66
Ichthyosis Hystrix, Curth Macklin Type 50 69
Ichthyosis Hystrix of Curth-Macklin 56 29
Ihcm 50 66
Curth-Macklin Type Ichthyosis Hystrix 50

Characteristics:

Orphanet epidemiological data:

56
ichthyosis hystrix of curth-macklin
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
ichthyosis histrix, curth-macklin type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 146590
Orphanet 56 ORPHA79503
ICD10 via Orphanet 34 Q80.8
MESH via Orphanet 43 C536088
UMLS via Orphanet 70 C0432307 C1840296
MedGen 40 C1840296
MeSH 42 D007057

Summaries for Ichthyosis Histrix, Curth-Macklin Type

OMIM : 54 Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization were known to have a structural defect of... (146590) more...

MalaCards based summary : Ichthyosis Histrix, Curth-Macklin Type, also known as ichthyosis hystrix, curth-macklin type, is related to ichthyosis, and has symptoms including ichthyosis, flexion contracture and nail dystrophy. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 66 Ichthyosis hystrix, Curth-Macklin type: A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks.

Related Diseases for Ichthyosis Histrix, Curth-Macklin Type

Diseases related to Ichthyosis Histrix, Curth-Macklin Type via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ichthyosis 10.6

Symptoms & Phenotypes for Ichthyosis Histrix, Curth-Macklin Type

Symptoms by clinical synopsis from OMIM:

146590

Clinical features from OMIM:

146590

Human phenotypes related to Ichthyosis Histrix, Curth-Macklin Type:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
2 flexion contracture 56 32 Frequent (79-30%) HP:0001371
3 nail dystrophy 56 32 Frequent (79-30%) HP:0008404
4 recurrent skin infections 56 32 Very frequent (99-80%) HP:0001581
5 diffuse palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0007435
6 autoamputation of digits 56 32 Occasional (29-5%) HP:0007460
7 bleeding with minor or no trauma 56 32 Occasional (29-5%) HP:0011889
8 abnormality of metabolism/homeostasis 32 HP:0001939
9 hyperkeratosis 56 Very frequent (99-80%)

Drugs & Therapeutics for Ichthyosis Histrix, Curth-Macklin Type

Search Clinical Trials , NIH Clinical Center for Ichthyosis Histrix, Curth-Macklin Type

Genetic Tests for Ichthyosis Histrix, Curth-Macklin Type

Genetic tests related to Ichthyosis Histrix, Curth-Macklin Type:

id Genetic test Affiliating Genes
1 Ichthyosis Hystrix, Curth Macklin Type 29

Anatomical Context for Ichthyosis Histrix, Curth-Macklin Type

MalaCards organs/tissues related to Ichthyosis Histrix, Curth-Macklin Type:

39
Skin

Publications for Ichthyosis Histrix, Curth-Macklin Type

Variations for Ichthyosis Histrix, Curth-Macklin Type

ClinVar genetic disease variations for Ichthyosis Histrix, Curth-Macklin Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT1 NM_006121.3(KRT1): c.1609_1610delGGinsA (p.Gly537Ilefs) indel Pathogenic rs59169454 GRCh37 Chromosome 12, 53069302: 53069303

Expression for Ichthyosis Histrix, Curth-Macklin Type

Search GEO for disease gene expression data for Ichthyosis Histrix, Curth-Macklin Type.

Pathways for Ichthyosis Histrix, Curth-Macklin Type

GO Terms for Ichthyosis Histrix, Curth-Macklin Type

Sources for Ichthyosis Histrix, Curth-Macklin Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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