ARCI7
MCID: ICH045
MIFTS: 33

Ichthyosis, Congenital, Autosomal Recessive 7 (ARCI7)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 7

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 7:

Name: Ichthyosis, Congenital, Autosomal Recessive 7 56 13 71
Autosomal Recessive Congenital Ichthyosis 7 12 15
Arci7 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
affected individuals are born with normal-appearing skin and develop scaling a few days after birth
variable severity of scaling and palmoplantar keratoderma


HPO:

31
ichthyosis, congenital, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060716
OMIM 56 615022
OMIM Phenotypic Series 56 PS242300
ICD10 32 Q80.2
MedGen 41 C3554348
UMLS 71 C3554348

Summaries for Ichthyosis, Congenital, Autosomal Recessive 7

OMIM : 56 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (615022)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 7, also known as autosomal recessive congenital ichthyosis 7, is related to autosomal recessive congenital ichthyosis and ainhum. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 7 is ARCI7 (Ichthyosis, Congenital, Autosomal Recessive 7), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin and eye, and related phenotypes are ichthyosis and palmoplantar keratoderma

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 7

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 Ichthyosis, Congenital, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive congenital ichthyosis 27.3 TGM1 ST14 SDR9C7 PNPLA1 NIPAL4 LIPN
2 ainhum 10.2 PNPLA1 NIPAL4
3 tinea profunda 10.1 NIPAL4 ALOXE3
4 ichthyosis, congenital, autosomal recessive 2 10.0 ALOXE3 ALOX12B
5 chanarin-dorfman syndrome 9.9 PNPLA1 CERS3 ALOXE3
6 acrokeratosis verruciformis 9.9 NIPAL4 CYP4F22 ALOX12B
7 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.8 TGM1 CERS3
8 self-improving collodion baby 9.6 TGM1 ALOXE3 ALOX12B
9 ichthyosis, congenital, autosomal recessive 9 9.6 CERS3 APPL1
10 erythrokeratodermia variabilis et progressiva 1 9.6 TGM1 NIPAL4 ABCA12
11 ichthyosis, congenital, autosomal recessive 4a 9.6 TGM1 ABCA12
12 epidermolytic hyperkeratosis 9.5 TGM1 PNPLA1 NIPAL4 ALOXE3
13 ichthyosis, x-linked 9.1 TGM1 NIPAL4 ALOXE3 ALOX12B ABCA12
14 ichthyosis vulgaris 9.1 TGM1 NIPAL4 ALOXE3 ALOX12B ABCA12
15 ectropion 8.8 TGM1 NIPAL4 CYP4F22 ALOXE3 ALOX12B ABCA12
16 eyelid disease 8.6 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
17 ichthyosis, congenital, autosomal recessive 4b 8.4 TGM1 PNPLA1 NIPAL4 CYP4F22 CERS3 ALOXE3
18 ichthyosis, congenital, autosomal recessive 1 8.2 TGM1 SDR9C7 PNPLA1 NIPAL4 CYP4F22 CERS3
19 ichthyosis 7.1 TGM1 ST14 SDR9C7 PNPLA1 NIPAL4 LIPN

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 7:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 7

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 7

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 7:

31
# Description HPO Frequency HPO Source Accession
1 ichthyosis 31 very rare (1%) HP:0008064
2 palmoplantar keratoderma 31 very rare (1%) HP:0000982
3 erythroderma 31 very rare (1%) HP:0001019
4 epidermal acanthosis 31 HP:0025092
5 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin Histology:
hypergranulosis
acanthosis
papillomatosis
compact hyperkeratosis

Skin Nails Hair Nails:
onychomycosis, recurrent (in some patients)

Skin Nails Hair Skin:
fine whitish scales
larger lamellar scales (in some patients)
erythroderma, moderate to severe
palmoplantar keratoderma (mild in some patients)

Clinical features from OMIM:

615022

MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ABCA12 ALOX12B ALOXE3 APPL1 CERS3 LIPN
2 integument MP:0010771 9.56 ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1
3 mortality/aging MP:0010768 9.28 ABCA12 ALOX12B ALOXE3 APPL1 CERS3 NIPAL4

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 7

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 7

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 7

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 7

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 7:

40
Skin, Eye

Publications for Ichthyosis, Congenital, Autosomal Recessive 7

Articles related to Ichthyosis, Congenital, Autosomal Recessive 7:

# Title Authors PMID Year
1
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 56
20643494 2010
2
Autosomal recessive congenital ichthyosis. 56
19434086 2009
3
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 56
16436457 2006
4
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 56
16116617 2005
5
Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. 56
16117785 2005
6
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. 56
12890214 2003
7
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 56
12780701 2003
8
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 56
10712205 2000
9
ARCI7 Revisited and Repositioned. 61
28011144 2017
10
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 61
28173123 2016

Variations for Ichthyosis, Congenital, Autosomal Recessive 7

Expression for Ichthyosis, Congenital, Autosomal Recessive 7

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 7.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 7

Pathways related to Ichthyosis, Congenital, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 ALOXE3 ALOX12B

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 7

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 SDR9C7 CYP4F22 ALOXE3 ALOX12B
2 lipid metabolic process GO:0006629 9.8 PNPLA1 LIPN CERS3 ALOXE3 ALOX12B
3 sphingolipid metabolic process GO:0006665 9.5 CERS3 ALOXE3 ALOX12B
4 lipid homeostasis GO:0055088 9.49 PNPLA1 ABCA12
5 arachidonic acid metabolic process GO:0019369 9.48 ALOXE3 ALOX12B
6 linoleic acid metabolic process GO:0043651 9.46 ALOXE3 ALOX12B
7 cornification GO:0070268 9.46 TGM1 ST14 LIPN CERS3
8 lipoxygenase pathway GO:0019372 9.43 ALOXE3 ALOX12B
9 ceramide biosynthetic process GO:0046513 9.43 CERS3 ALOXE3 ALOX12B
10 hepoxilin biosynthetic process GO:0051122 9.37 ALOXE3 ALOX12B
11 establishment of skin barrier GO:0061436 9.13 ALOXE3 ALOX12B ABCA12
12 keratinocyte differentiation GO:0030216 8.92 TGM1 ST14 CERS3 ABCA12

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 SDR9C7 CYP4F22 ALOXE3 ALOX12B
2 iron ion binding GO:0005506 9.13 CYP4F22 ALOXE3 ALOX12B
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOXE3 ALOX12B

Sources for Ichthyosis, Congenital, Autosomal Recessive 7

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
Content
Loading form....