MCID: INH022
MIFTS: 17

Inherited Ichthyosis

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Inherited Ichthyosis

MalaCards integrated aliases for Inherited Ichthyosis:

Name: Inherited Ichthyosis 59
Genetic Ichthyosis 59

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

UMLS via Orphanet 73 C0856562
Orphanet 59 ORPHA183435

Summaries for Inherited Ichthyosis

MalaCards based summary : Inherited Ichthyosis, also known as genetic ichthyosis, is related to inherited ichthyosis syndromic form and ichthyosis. An important gene associated with Inherited Ichthyosis is CASP14 (Caspase 14). Affiliated tissues include skin, small intestine and thyroid.

Related Diseases for Inherited Ichthyosis

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 4a
Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 5
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 6
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 14
Ichthyosis, Congenital, Autosomal Recessive 13 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired Inherited Ichthyosis
Autosomal Ichthyosis Syndrome

Diseases related to Inherited Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 inherited ichthyosis syndromic form 12.3
2 ichthyosis 10.4
3 autosomal recessive congenital ichthyosis 10.1
4 keratosis 10.0
5 ichthyosis vulgaris 9.9
6 netherton syndrome 9.9
7 ichthyosis, x-linked 9.9
8 epidermolytic hyperkeratosis 9.8
9 keratitis, hereditary 9.8
10 ichthyosis, congenital, autosomal recessive 4b 9.8
11 sjogren-larsson syndrome 9.8
12 branchiootic syndrome 1 9.8
13 ichthyosis, congenital, autosomal recessive 3 9.8
14 ichthyosis, congenital, autosomal recessive 12 9.8
15 x-linked chondrodysplasia punctata 2 9.8
16 skin disease 9.8
17 intracranial hypertension 9.8
18 ichthyosis follicularis atrichia photophobia syndrome 9.8
19 kid syndrome 9.8
20 keratinopathic ichthyosis 9.8
21 self-improving collodion baby 9.8
22 acral self-healing collodion baby 9.8

Graphical network of the top 20 diseases related to Inherited Ichthyosis:



Diseases related to Inherited Ichthyosis

Symptoms & Phenotypes for Inherited Ichthyosis

Drugs & Therapeutics for Inherited Ichthyosis

Search Clinical Trials , NIH Clinical Center for Inherited Ichthyosis

Genetic Tests for Inherited Ichthyosis

Anatomical Context for Inherited Ichthyosis

MalaCards organs/tissues related to Inherited Ichthyosis:

41
Skin, Small Intestine, Thyroid, T Cells

Publications for Inherited Ichthyosis

Articles related to Inherited Ichthyosis:

(show all 33)
# Title Authors PMID Year
1
Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis. 38
30982314 2019
2
Whole-exome sequencing for diagnosis of hereditary ichthyosis. 38
29444371 2018
3
Alitretinoin reduces erythema in inherited ichthyosis. 38
29618363 2018
4
Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing. 38
27291450 2017
5
Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. 38
27494380 2017
6
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization. 38
27478344 2016
7
Inherited ichthyosis: Syndromic forms. 38
26945533 2016
8
Inherited ichthyosis: Non-syndromic forms. 38
26945532 2016
9
Burden of inherited ichthyosis: a French national survey. 38
25510955 2015
10
Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris. 38
26396540 2015
11
Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center. 38
25091406 2014
12
Prevalence of inherited ichthyosis in France: a study using capture-recapture method. 38
24393603 2014
13
Netherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case. 38
23829563 2013
14
IQoL-32: a new ichthyosis-specific measure of quality of life. 38
23474424 2013
15
Family burden in inherited ichthyosis: creation of a specific questionnaire. 38
23414570 2013
16
Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groups. 38
22014001 2012
17
Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis. 38
21729027 2011
18
Pediatric dermatology emergencies. 38
21670682 2011
19
Updated molecular genetics and pathogenesis of ichthiyoses. 38
21928690 2011
20
Malignant skin tumours in patients with inherited ichthyosis. 38
21517795 2011
21
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 38
20643494 2010
22
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. 38
19689541 2009
23
Ichthyosiform eruptions in association with primary cutaneous T-cell lymphomas. 38
19416265 2009
24
A novel congenital ichthyosiform syndrome with associated panhypopituitarism, corneal opacities and mental retardation. 38
17786459 2007
25
Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies. 38
15875205 2005
26
Cross-linked envelopes in nail plate in lamellar ichthyosis. 38
14632814 2003
27
Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. 38
11676820 2001
28
Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features. 38
1417065 1992
29
Report of a family with an unusual expression of recessive ichthyosis. Review of 42 cases. 38
3954411 1986
30
[The enzyme arylsulfatase C and steroid sulfatase as biochemical markers and pathogenetic factors in X-chromosome recessively inherited ichthyosis]. 38
6580240 1983
31
Genetic ichthyosis and Trichophyton rubrum infection in infants. 38
6212762 1982
32
Enzyme histochemistry of the small intestine in inherited ichthyosis. 38
84496 1979
33
X-linked icthyosis. A sulphatase deficiency. 38
727794 1978

Variations for Inherited Ichthyosis

Expression for Inherited Ichthyosis

Search GEO for disease gene expression data for Inherited Ichthyosis.

Pathways for Inherited Ichthyosis

GO Terms for Inherited Ichthyosis

Sources for Inherited Ichthyosis

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
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