ARCI5
MCID: ICH050
MIFTS: 26

Ichthyosis, Congenital, Autosomal Recessive 5 (ARCI5)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 5

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 5:

Name: Ichthyosis, Congenital, Autosomal Recessive 5 58 76 13
Autosomal Recessive Congenital Ichthyosis 5 12 30 6
Arci5 58 12 76
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 58 74
Ichthyosis Congenita Iii 58 76
Nnci 58 76
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive; Nnci 58
Non-Lamellar and Non-Erythrodermic Congenital Autosomal Recessive Ichthyosis 76
Autosomal Recessive Congenital Nonlamellar and Nonerythrodermic Ichthyosis 12
Ichthyosis, Congenital, Autosomal Recessive, Type 5 41
Ichthyosis, Lamellar, 3, Formerly; Li3, Formerly 58
Ichthyosis, Lamellar, 3, Formerly 58
Ichthyosis, Lamellar, 3 74
Lamellar Ichthyosis 3 76
Li3, Formerly 58
Li3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
disease complicated by recurrent sepsis in some patients


HPO:

33
ichthyosis, congenital, autosomal recessive 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Congenital, Autosomal Recessive 5

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). (604777)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 5, also known as autosomal recessive congenital ichthyosis 5, is related to ichthyosis lamellar 3 and rapidly involuting congenital hemangioma. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 5 is CYP4F22 (Cytochrome P450 Family 4 Subfamily F Member 22). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and erythroderma

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.

UniProtKB/Swiss-Prot : 76 Ichthyosis, congenital, autosomal recessive 5: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 5

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 5

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 5:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 33 occasional (7.5%) HP:0000982
2 erythroderma 33 occasional (7.5%) HP:0001019
3 orthokeratosis 33 occasional (7.5%) HP:0040162
4 parakeratosis 33 HP:0001036
5 epidermal acanthosis 33 HP:0025092
6 congenital nonbullous ichthyosiform erythroderma 33 HP:0007479
7 acanthocytosis 33 HP:0001927

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
hyperkeratosis
dilation of dermal capillaries
orthokeratosis (in some patients)
thickening of stratum corneum, mild
acanthosis, moderate
more
Cardiovascular Vascular:
dilation of dermal capillaries

Skin Nails Hair Skin:
palmoplantar keratoderma (in some patients)
collodion membrane at birth (in some patients)
fine white or greyish-white scales
erythroderma (in some patients)
hyperlinearity of palms (in some patients)
more

Clinical features from OMIM:

604777

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 5

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 5

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 5

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 5:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 5 30

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 5

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 5:

42
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 5

Variations for Ichthyosis, Congenital, Autosomal Recessive 5

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 5:

76
# Symbol AA change Variation ID SNP ID
1 CYP4F22 p.Phe59Leu VAR_037441 rs118091316
2 CYP4F22 p.Arg243His VAR_037442 rs118203937
3 CYP4F22 p.Arg372Trp VAR_037443 rs201129618
4 CYP4F22 p.His435Tyr VAR_037444 rs118203935
5 CYP4F22 p.His436Asp VAR_037445 rs118203936

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 5:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP4F22 NM_173483.3(CYP4F22): c.1303C> T (p.His435Tyr) single nucleotide variant Pathogenic rs118203935 GRCh37 Chromosome 19, 15659981: 15659981
2 CYP4F22 NM_173483.3(CYP4F22): c.1303C> T (p.His435Tyr) single nucleotide variant Pathogenic rs118203935 GRCh38 Chromosome 19, 15549170: 15549170
3 CYP4F22 NM_173483.3(CYP4F22): c.1306C> G (p.His436Asp) single nucleotide variant Pathogenic rs118203936 GRCh37 Chromosome 19, 15659984: 15659984
4 CYP4F22 NM_173483.3(CYP4F22): c.1306C> G (p.His436Asp) single nucleotide variant Pathogenic rs118203936 GRCh38 Chromosome 19, 15549173: 15549173
5 CYP4F22 NM_173483.3(CYP4F22): c.728G> A (p.Arg243His) single nucleotide variant Pathogenic rs118203937 GRCh37 Chromosome 19, 15651317: 15651317
6 CYP4F22 NM_173483.3(CYP4F22): c.728G> A (p.Arg243His) single nucleotide variant Pathogenic rs118203937 GRCh38 Chromosome 19, 15540506: 15540506
7 CYP4F22 CYP4F22, EX3-12DEL deletion Pathogenic
8 CYP4F22 CYP4F22, TRP521TER single nucleotide variant Pathogenic
9 CYP4F22 NM_173483.3(CYP4F22): c.59dupG (p.Ile21Hisfs) duplication Pathogenic rs531800013 GRCh37 Chromosome 19, 15636206: 15636206
10 CYP4F22 NM_173483.3(CYP4F22): c.59dupG (p.Ile21Hisfs) duplication Pathogenic rs531800013 GRCh38 Chromosome 19, 15525395: 15525395
11 CYP4F22 NM_173483.3(CYP4F22): c.667C> T (p.Gln223Ter) single nucleotide variant Uncertain significance rs199892192 GRCh37 Chromosome 19, 15648800: 15648800
12 CYP4F22 NM_173483.3(CYP4F22): c.667C> T (p.Gln223Ter) single nucleotide variant Uncertain significance rs199892192 GRCh38 Chromosome 19, 15537989: 15537989
13 CYP4F22 NM_173483.3(CYP4F22): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs745368359 GRCh38 Chromosome 19, 15544227: 15544227
14 CYP4F22 NM_173483.3(CYP4F22): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs745368359 GRCh37 Chromosome 19, 15655038: 15655038
15 CYP4F22 NM_173483.3(CYP4F22): c.976C> T (p.Arg326Ter) single nucleotide variant Pathogenic rs762667660 GRCh38 Chromosome 19, 15544007: 15544007
16 CYP4F22 NM_173483.3(CYP4F22): c.976C> T (p.Arg326Ter) single nucleotide variant Pathogenic rs762667660 GRCh37 Chromosome 19, 15654818: 15654818
17 CYP4F22 NM_173483.3(CYP4F22): c.1064C> T (p.Pro355Leu) single nucleotide variant Uncertain significance rs760727576 GRCh37 Chromosome 19, 15655018: 15655018
18 CYP4F22 NM_173483.3(CYP4F22): c.1064C> T (p.Pro355Leu) single nucleotide variant Uncertain significance rs760727576 GRCh38 Chromosome 19, 15544207: 15544207
19 CYP4F22 NM_173483.3(CYP4F22): c.314C> T (p.Pro105Leu) single nucleotide variant Uncertain significance rs749972738 GRCh37 Chromosome 19, 15640611: 15640611
20 CYP4F22 NM_173483.3(CYP4F22): c.314C> T (p.Pro105Leu) single nucleotide variant Uncertain significance rs749972738 GRCh38 Chromosome 19, 15529800: 15529800
21 CYP4F22 NM_173483.3(CYP4F22): c.1424G> A (p.Cys475Tyr) single nucleotide variant Uncertain significance rs1403531884 GRCh37 Chromosome 19, 15662110: 15662110
22 CYP4F22 NM_173483.3(CYP4F22): c.1424G> A (p.Cys475Tyr) single nucleotide variant Uncertain significance rs1403531884 GRCh38 Chromosome 19, 15551299: 15551299
23 CYP4F22 NM_173483.3(CYP4F22): c.177C> G (p.Phe59Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15525513: 15525513
24 CYP4F22 NM_173483.3(CYP4F22): c.177C> G (p.Phe59Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15636324: 15636324
25 CYP4F22 NM_173483.3(CYP4F22): c.242G> A (p.Gly81Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15529728: 15529728
26 CYP4F22 NM_173483.3(CYP4F22): c.242G> A (p.Gly81Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15640539: 15640539
27 CYP4F22 NM_173483.3(CYP4F22): c.367+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15529854: 15529854
28 CYP4F22 NM_173483.3(CYP4F22): c.367+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15640665: 15640665
29 CYP4F22 NM_173483.3(CYP4F22): c.421+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15537415: 15537415
30 CYP4F22 NM_173483.3(CYP4F22): c.421+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15648226: 15648226
31 CYP4F22 NM_173483.3(CYP4F22): c.429dup (p.Leu144Alafs) duplication Pathogenic GRCh37 Chromosome 19, 15648353: 15648353
32 CYP4F22 NM_173483.3(CYP4F22): c.429dup (p.Leu144Alafs) duplication Pathogenic GRCh38 Chromosome 19, 15537542: 15537542
33 CYP4F22 NM_173483.3(CYP4F22): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15648390: 15648390
34 CYP4F22 NM_173483.3(CYP4F22): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15537579: 15537579
35 CYP4F22 NM_173483.3(CYP4F22): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15537580: 15537580
36 CYP4F22 NM_173483.3(CYP4F22): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15648391: 15648391
37 CYP4F22 NM_173483.3(CYP4F22): c.493_499delTTTGACAinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) indel Pathogenic GRCh37 Chromosome 19, 15648417: 15648423
38 CYP4F22 NM_173483.3(CYP4F22): c.493_499delTTTGACAinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) indel Pathogenic GRCh38 Chromosome 19, 15537606: 15537612
39 CYP4F22 NM_173483.3(CYP4F22): c.549+5G> C single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15648478: 15648478
40 CYP4F22 NM_173483.3(CYP4F22): c.549+5G> C single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15537667: 15537667
41 CYP4F22 NM_173483.3(CYP4F22): c.550-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15537870: 15537870
42 CYP4F22 NM_173483.3(CYP4F22): c.550-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15648681: 15648681
43 CYP4F22 NM_173483.3(CYP4F22): c.592G> T (p.Asp198Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15537914: 15537914
44 CYP4F22 NM_173483.3(CYP4F22): c.592G> T (p.Asp198Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15648725: 15648725
45 CYP4F22 NM_173483.3(CYP4F22): c.643_644del (p.Val215Leufs) deletion Pathogenic GRCh37 Chromosome 19, 15648776: 15648777
46 CYP4F22 NM_173483.3(CYP4F22): c.643_644del (p.Val215Leufs) deletion Pathogenic GRCh38 Chromosome 19, 15537965: 15537966
47 CYP4F22 NM_173483.3(CYP4F22): c.697A> C (p.Ile233Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 15540475: 15540475
48 CYP4F22 NM_173483.3(CYP4F22): c.697A> C (p.Ile233Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 15651286: 15651286
49 CYP4F22 NM_173483.3(CYP4F22): c.712G> A (p.Ala238Thr) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 19, 15651301: 15651301
50 CYP4F22 NM_173483.3(CYP4F22): c.712G> A (p.Ala238Thr) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 19, 15540490: 15540490

Expression for Ichthyosis, Congenital, Autosomal Recessive 5

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Pathways for Ichthyosis, Congenital, Autosomal Recessive 5

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 5

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