ARCI7
MCID: ICH045
MIFTS: 24

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 58 13 74
Autosomal Recessive Congenital Ichthyosis 7 12 15
Arci7 58 12

Characteristics:

OMIM:

58
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:

33
ichthyosis, congenital, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060716
OMIM 58 615022
ICD10 34 Q80.2
MedGen 43 C3554348
UMLS 74 C3554348

Summaries for Ichthyosis, Congenital, Autosomal Recessive 7

OMIM : 58 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 ichthyosis, congenital, autosomal recessive 6 and ichthyosis. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 7 is ARCI7 (Ichthyosis, Congenital, Autosomal Recessive 7). Affiliated tissues include skin, 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.

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 7

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

33
# Description HPO Frequency HPO Source Accession
1 ichthyosis 33 very rare (1%) HP:0008064
2 palmoplantar keratoderma 33 very rare (1%) HP:0000982
3 erythroderma 33 very rare (1%) HP:0001019
4 epidermal acanthosis 33 HP:0025092
5 hypergranulosis 33 HP:0025114

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
acanthosis
papillomatosis
hypergranulosis
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

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:

42
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 7

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

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 7

Sources for Ichthyosis, Congenital, Autosomal Recessive 7

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