ARCI5
MCID: ICH050
MIFTS: 29

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 57 74 13
Autosomal Recessive Congenital Ichthyosis 5 12 29 6
Arci5 57 12 74
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 57 72
Ichthyosis Congenita Iii 57 74
Nnci 57 74
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive; Nnci 57
Non-Lamellar and Non-Erythrodermic Congenital Autosomal Recessive Ichthyosis 74
Autosomal Recessive Congenital Nonlamellar and Nonerythrodermic Ichthyosis 12
Ichthyosis, Congenital, Autosomal Recessive, Type 5 40
Ichthyosis, Lamellar, 3, Formerly; Li3, Formerly 57
Ichthyosis, Lamellar, 3, Formerly 57
Ichthyosis, Lamellar, 3 72
Lamellar Ichthyosis 3 74
Li3, Formerly 57
Li3 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
disease complicated by recurrent sepsis in some patients


HPO:

32
ichthyosis, congenital, autosomal recessive 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060714
MeSH 44 D017490
ICD10 33 Q80.2
UMLS 72 C1858133 C1858142

Summaries for Ichthyosis, Congenital, Autosomal Recessive 5

OMIM : 57 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 neutropenia, severe congenital, 2, autosomal dominant. 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 : 74 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.

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 5

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 occasional (7.5%) HP:0000982
2 erythroderma 32 occasional (7.5%) HP:0001019
3 orthokeratosis 32 occasional (7.5%) HP:0040162
4 parakeratosis 32 HP:0001036
5 epidermal acanthosis 32 HP:0025092
6 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
7 acanthocytosis 32 HP:0001927

Symptoms via clinical synopsis from OMIM:

57
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 29 CYP4F22

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 5

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

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 5

Articles related to Ichthyosis, Congenital, Autosomal Recessive 5:

(show all 11)
# Title Authors PMID Year
1
Rapid detection of homozygous mutations in congenital recessive ichthyosis. 8 71
18034255 2008
2
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 8 71
16436457 2006
3
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 8
20643494 2010
4
Autosomal recessive congenital ichthyosis. 8
19434086 2009
5
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 8
16116617 2005
6
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 8
12780701 2003
7
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 8
10712205 2000
8
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. 8
10712223 2000
9
Imaging negative stroke: diagnoses and outcomes in intravenous tissue plasminogen activator-treated patients. 38
24103663 2014
10
Safety of tPA in stroke mimics and neuroimaging-negative cerebral ischemia. 38
20335564 2010
11
Nurses' assessments and patients' perceptions: development of the Night Nursing Care Instrument (NNCI), measuring nursing care at night. 38
15921988 2005

Variations for Ichthyosis, Congenital, Autosomal Recessive 5

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

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYP4F22 NM_173483.4(CYP4F22): c.847C> T (p.Arg283Trp) single nucleotide variant Pathogenic 19:15651436-15651436 19:15540625-15540625
2 CYP4F22 NM_173483.4(CYP4F22): c.912C> A (p.Asp304Glu) single nucleotide variant Pathogenic 19:15651501-15651501 19:15540690-15540690
3 CYP4F22 NM_173483.4(CYP4F22): c.917T> C (p.Ile306Thr) single nucleotide variant Pathogenic 19:15651506-15651506 19:15540695-15540695
4 CYP4F22 NM_173483.4(CYP4F22): c.940-1G> A single nucleotide variant Pathogenic 19:15654781-15654781 19:15543970-15543970
5 CYP4F22 NM_173483.4(CYP4F22): c.981del (p.Glu328fs) deletion Pathogenic 19:15654823-15654823 19:15544012-15544012
6 CYP4F22 NM_173483.4(CYP4F22): c.1084C> G (p.Arg362Gly) single nucleotide variant Pathogenic 19:15655038-15655038 19:15544227-15544227
7 CYP4F22 NM_173483.4(CYP4F22): c.1085G> A (p.Arg362Gln) single nucleotide variant Pathogenic 19:15655039-15655039 19:15544228-15544228
8 CYP4F22 NM_173483.4(CYP4F22): c.1114C> T (p.Arg372Trp) single nucleotide variant Pathogenic 19:15655068-15655068 19:15544257-15544257
9 CYP4F22 NM_173483.4(CYP4F22): c.1137-18_1137-4del deletion Pathogenic 19:15658901-15658915 19:15548090-15548104
10 CYP4F22 NM_173483.3(CYP4F22): c.1138del (p.Asp380Thrfs) deletion Pathogenic 19:15658920-15658920 19:15548109-15548109
11 CYP4F22 NM_173483.4(CYP4F22): c.1163C> A (p.Thr388Lys) single nucleotide variant Pathogenic 19:15658945-15658945 19:15548134-15548134
12 CYP4F22 NM_173483.4(CYP4F22): c.1351C> T (p.Arg451Cys) single nucleotide variant Pathogenic 19:15661500-15661500 19:15550689-15550689
13 CYP4F22 NM_173483.4(CYP4F22): c.1352G> C (p.Arg451Pro) single nucleotide variant Pathogenic 19:15661501-15661501 19:15550690-15550690
14 CYP4F22 NM_173483.4(CYP4F22): c.1488C> G (p.Phe496Leu) single nucleotide variant Pathogenic 19:15662174-15662174 19:15551363-15551363
15 CYP4F22 NM_173483.4(CYP4F22): c.1532A> G (p.Glu511Gly) single nucleotide variant Pathogenic 19:15662218-15662218 19:15551407-15551407
16 CYP4F22 NM_173483.4(CYP4F22): c.1563G> A (p.Trp521Ter) single nucleotide variant Pathogenic 19:15662249-15662249 19:15551438-15551438
17 CYP4F22 NM_173483.4(CYP4F22): c.1303C> T (p.His435Tyr) single nucleotide variant Pathogenic rs118203935 19:15659981-15659981 19:15549170-15549170
18 CYP4F22 NM_173483.4(CYP4F22): c.1306C> G (p.His436Asp) single nucleotide variant Pathogenic rs118203936 19:15659984-15659984 19:15549173-15549173
19 CYP4F22 NM_173483.4(CYP4F22): c.728G> A (p.Arg243His) single nucleotide variant Pathogenic rs118203937 19:15651317-15651317 19:15540506-15540506
20 CYP4F22 CYP4F22, EX3-12DEL deletion Pathogenic
21 CYP4F22 CYP4F22, TRP521TER single nucleotide variant Pathogenic
22 CYP4F22 NM_173483.4(CYP4F22): c.59dup (p.Ile21fs) duplication Pathogenic rs531800013 19:15636206-15636206 19:15525395-15525395
23 CYP4F22 NM_173483.4(CYP4F22): c.177C> G (p.Phe59Leu) single nucleotide variant Pathogenic 19:15636324-15636324 19:15525513-15525513
24 CYP4F22 NM_173483.4(CYP4F22): c.242G> A (p.Gly81Asp) single nucleotide variant Pathogenic 19:15640539-15640539 19:15529728-15529728
25 CYP4F22 NM_173483.4(CYP4F22): c.367+1G> A single nucleotide variant Pathogenic 19:15640665-15640665 19:15529854-15529854
26 CYP4F22 NM_173483.4(CYP4F22): c.421+1G> A single nucleotide variant Pathogenic 19:15648226-15648226 19:15537415-15537415
27 CYP4F22 NM_173483.4(CYP4F22): c.429dup (p.Leu144fs) duplication Pathogenic 19:15648353-15648353 19:15537542-15537542
28 CYP4F22 NM_173483.4(CYP4F22): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic 19:15648390-15648390 19:15537579-15537579
29 CYP4F22 NM_173483.4(CYP4F22): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic 19:15648391-15648391 19:15537580-15537580
30 CYP4F22 NM_173483.4(CYP4F22): c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) indel Pathogenic 19:15648417-15648423 19:15537606-15537612
31 CYP4F22 NM_173483.4(CYP4F22): c.549+5G> C single nucleotide variant Pathogenic 19:15648478-15648478 19:15537667-15537667
32 CYP4F22 NM_173483.4(CYP4F22): c.550-2A> T single nucleotide variant Pathogenic 19:15648681-15648681 19:15537870-15537870
33 CYP4F22 NM_173483.4(CYP4F22): c.592G> T (p.Asp198Tyr) single nucleotide variant Pathogenic 19:15648725-15648725 19:15537914-15537914
34 CYP4F22 NM_173483.4(CYP4F22): c.641_642GT[1] (p.Val215fs) short repeat Pathogenic 19:15648776-15648777 19:15537965-15537966
35 CYP4F22 NM_173483.4(CYP4F22): c.697A> C (p.Ile233Leu) single nucleotide variant Pathogenic 19:15651286-15651286 19:15540475-15540475
36 CYP4F22 NM_173483.4(CYP4F22): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs745368359 19:15655038-15655038 19:15544227-15544227
37 CYP4F22 NM_173483.4(CYP4F22): c.976C> T (p.Arg326Ter) single nucleotide variant Pathogenic rs762667660 19:15654818-15654818 19:15544007-15544007
38 CYP4F22 NM_173483.4(CYP4F22): c.716_719TGTC[1] (p.Val241fs) short repeat Pathogenic 19:15651309-15651312 19:15540498-15540501
39 CYP4F22 NM_173483.4(CYP4F22): c.727C> T (p.Arg243Cys) single nucleotide variant Pathogenic 19:15651316-15651316 19:15540505-15540505
40 CYP4F22 NM_173483.4(CYP4F22): c.236A> G (p.Glu79Gly) single nucleotide variant Likely pathogenic 19:15640533-15640533 19:15529722-15529722
41 CYP4F22 NM_173483.4(CYP4F22): c.1219C> T (p.Arg407Cys) single nucleotide variant Likely pathogenic 19:15659001-15659001 19:15548190-15548190
42 CYP4F22 NM_173483.4(CYP4F22): c.712G> A (p.Ala238Thr) single nucleotide variant Conflicting interpretations of pathogenicity 19:15651301-15651301 19:15540490-15540490
43 CYP4F22 NM_173483.4(CYP4F22): c.1493T> G (p.Leu498Arg) single nucleotide variant Uncertain significance 19:15662179-15662179 19:15551368-15551368
44 CYP4F22 NM_173483.4(CYP4F22): c.550-11_550-4delinsGGTGACATCTGG indel Uncertain significance 19:15648672-15648679 19:15537861-15537868
45 CYP4F22 NM_173483.4(CYP4F22): c.1064C> T (p.Pro355Leu) single nucleotide variant Uncertain significance rs760727576 19:15655018-15655018 19:15544207-15544207
46 CYP4F22 NM_173483.4(CYP4F22): c.314C> T (p.Pro105Leu) single nucleotide variant Uncertain significance rs749972738 19:15640611-15640611 19:15529800-15529800
47 CYP4F22 NM_173483.4(CYP4F22): c.1424G> A (p.Cys475Tyr) single nucleotide variant Uncertain significance rs1403531884 19:15662110-15662110 19:15551299-15551299
48 CYP4F22 NM_173483.4(CYP4F22): c.-1-1G> A single nucleotide variant Uncertain significance 19:15636146-15636146 19:15525335-15525335
49 CYP4F22 NM_173483.4(CYP4F22): c.844C> T (p.Arg282Trp) single nucleotide variant Uncertain significance 19:15651433-15651433 19:15540622-15540622
50 CYP4F22 NM_173483.4(CYP4F22): c.667C> T (p.Gln223Ter) single nucleotide variant Uncertain significance rs199892192 19:15648800-15648800 19:15537989-15537989

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

74
# 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

Expression for Ichthyosis, Congenital, Autosomal Recessive 5

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 5.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 5

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 5

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