ARCI5
MCID: ICH050
MIFTS: 32

Ichthyosis, Congenital, Autosomal Recessive 5 (ARCI5)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory 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 72 13
Autosomal Recessive Congenital Ichthyosis 5 12 29 6
Arci5 57 12 72
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 57 70
Ichthyosis Congenita Iii 57 72
Nnci 57 72
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive; Nnci 57
Non-Lamellar and Non-Erythrodermic Congenital Autosomal Recessive Ichthyosis 72
Autosomal Recessive Congenital Nonlamellar and Nonerythrodermic Ichthyosis 12
Ichthyosis, Congenital, Autosomal Recessive, Type 5 39
Ichthyosis, Lamellar, 3, Formerly; Li3, Formerly 57
Ichthyosis, Lamellar, 3, Formerly 57
Ichthyosis, Lamellar, 3 70
Lamellar Ichthyosis 3 72
Li3, Formerly 57
Li3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
disease complicated by recurrent sepsis in some patients


HPO:

31
ichthyosis, congenital, autosomal recessive 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060714
OMIM® 57 604777
OMIM Phenotypic Series 57 PS242300
MeSH 44 D017490
ICD10 32 Q80.2
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 5, also known as autosomal recessive congenital ichthyosis 5, is related to ichthyosis lamellar 3 and hair whorl. 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 eye, 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 : 72 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

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 5:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 5

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 5

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 occasional (7.5%) HP:0000982
2 erythroderma 31 occasional (7.5%) HP:0001019
3 orthokeratosis 31 occasional (7.5%) HP:0040162
4 acanthocytosis 31 HP:0001927
5 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
6 epidermal acanthosis 31 HP:0025092
7 parakeratosis 31 HP:0001036

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Skin, Eye

Publications for Ichthyosis, Congenital, Autosomal Recessive 5

Articles related to Ichthyosis, Congenital, Autosomal Recessive 5:

(show all 22)
# Title Authors PMID Year
1
Rapid detection of homozygous mutations in congenital recessive ichthyosis. 57 6
18034255 2008
2
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 57 6
16436457 2006
3
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
4
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. 6
30011118 2018
5
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. 6
27449533 2017
6
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 6
27025581 2016
7
Autosomal recessive congenital ichthyoses in the Czech Republic. 6
25998749 2016
8
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 6
26762237 2016
9
Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis. 6
24397709 2015
10
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. 6
23621129 2013
11
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. 6
23871423 2013
12
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. 6
22992804 2013
13
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 57
20643494 2010
14
Autosomal recessive congenital ichthyosis. 57
19434086 2009
15
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 57
16116617 2005
16
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 57
12780701 2003
17
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 57
10712205 2000
18
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. 57
10712223 2000
19
Transforming Psychiatry from the Classroom to the Clinic: Lessons from the National Neuroscience Curriculum Initiative. 61
31797322 2020
20
Imaging negative stroke: diagnoses and outcomes in intravenous tissue plasminogen activator-treated patients. 61
24103663 2014
21
Safety of tPA in stroke mimics and neuroimaging-negative cerebral ischemia. 61
20335564 2010
22
Nurses' assessments and patients' perceptions: development of the Night Nursing Care Instrument (NNCI), measuring nursing care at night. 61
15921988 2005

Variations for Ichthyosis, Congenital, Autosomal Recessive 5

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

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP4F22 NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) SNV Pathogenic 909 rs118203935 GRCh37: 19:15659981-15659981
GRCh38: 19:15549170-15549170
2 CYP4F22 NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) SNV Pathogenic 910 rs118203936 GRCh37: 19:15659984-15659984
GRCh38: 19:15549173-15549173
3 CYP4F22 NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) SNV Pathogenic 911 rs118203937 GRCh37: 19:15651317-15651317
GRCh38: 19:15540506-15540506
4 CYP4F22 CYP4F22, EX3-12DEL Deletion Pathogenic 912 GRCh37:
GRCh38:
5 CYP4F22 CYP4F22, TRP521TER SNV Pathogenic 39560 GRCh37:
GRCh38:
6 CYP4F22 NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp) SNV Pathogenic 560306 rs369811073 GRCh37: 19:15640539-15640539
GRCh38: 19:15529728-15529728
7 CYP4F22 NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) Indel Pathogenic 560307 rs1568360348 GRCh37: 19:15648417-15648423
GRCh38: 19:15537606-15537612
8 CYP4F22 NM_173483.4(CYP4F22):c.550-2A>T SNV Pathogenic 560308 rs1568360475 GRCh37: 19:15648681-15648681
GRCh38: 19:15537870-15537870
9 CYP4F22 NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr) SNV Pathogenic 560309 rs1568360526 GRCh37: 19:15648725-15648725
GRCh38: 19:15537914-15537914
10 CYP4F22 NM_173483.4(CYP4F22):c.641_642GT[1] (p.Val215fs) Microsatellite Pathogenic 560310 rs1568360554 GRCh37: 19:15648773-15648774
GRCh38: 19:15537962-15537963
11 CYP4F22 NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp) SNV Pathogenic 560311 rs755885838 GRCh37: 19:15651436-15651436
GRCh38: 19:15540625-15540625
12 CYP4F22 NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) SNV Pathogenic 560312 rs370734976 GRCh37: 19:15651506-15651506
GRCh38: 19:15540695-15540695
13 CYP4F22 NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys) SNV Pathogenic 560313 rs200581968 GRCh37: 19:15661500-15661500
GRCh38: 19:15550689-15550689
14 CYP4F22 NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu) SNV Pathogenic 560314 rs1568365205 GRCh37: 19:15662174-15662174
GRCh38: 19:15551363-15551363
15 CYP4F22 NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly) SNV Pathogenic 560315 rs1167473603 GRCh37: 19:15662218-15662218
GRCh38: 19:15551407-15551407
16 CYP4F22 NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) SNV Pathogenic 432683 rs749972738 GRCh37: 19:15640611-15640611
GRCh38: 19:15529800-15529800
17 CYP4F22 NM_173483.4(CYP4F22):c.716_719TGTC[1] (p.Val241fs) Microsatellite Pathogenic 560316 rs751937099 GRCh37: 19:15651303-15651306
GRCh38: 19:15540492-15540495
18 CYP4F22 NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro) SNV Pathogenic 560317 rs144961059 GRCh37: 19:15661501-15661501
GRCh38: 19:15550690-15550690
19 CYP4F22 NM_173483.4(CYP4F22):c.940-1G>A SNV Pathogenic 560318 rs1568362605 GRCh37: 19:15654781-15654781
GRCh38: 19:15543970-15543970
20 CYP4F22 NM_173483.4(CYP4F22):c.421+1G>A SNV Pathogenic 560319 rs773886415 GRCh37: 19:15648226-15648226
GRCh38: 19:15537415-15537415
21 CYP4F22 NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) SNV Pathogenic 425166 rs760727576 GRCh37: 19:15655018-15655018
GRCh38: 19:15544207-15544207
22 CYP4F22 NM_173483.4(CYP4F22):c.467G>A (p.Arg156His) SNV Pathogenic 560320 rs776275777 GRCh37: 19:15648391-15648391
GRCh38: 19:15537580-15537580
23 CYP4F22 NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu) SNV Pathogenic 560321 rs1568361250 GRCh37: 19:15651286-15651286
GRCh38: 19:15540475-15540475
24 CYP4F22 NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys) SNV Pathogenic 560322 rs1568364117 GRCh37: 19:15658945-15658945
GRCh38: 19:15548134-15548134
25 CYP4F22 NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) SNV Pathogenic 560323 rs1159994392 GRCh37: 19:15651501-15651501
GRCh38: 19:15540690-15540690
26 CYP4F22 NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr) SNV Pathogenic 444456 rs1403531884 GRCh37: 19:15662110-15662110
GRCh38: 19:15551299-15551299
27 CYP4F22 NM_173483.4(CYP4F22):c.1137-18_1137-4del Deletion Pathogenic 560324 rs1568364101 GRCh37: 19:15658901-15658915
GRCh38: 19:15548090-15548104
28 CYP4F22 NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly) SNV Pathogenic 560325 rs745368359 GRCh37: 19:15655038-15655038
GRCh38: 19:15544227-15544227
29 CYP4F22 NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter) SNV Pathogenic 420584 rs762667660 GRCh37: 19:15654818-15654818
GRCh38: 19:15544007-15544007
30 CYP4F22 NM_173483.4(CYP4F22):c.981del (p.Glu328fs) Deletion Pathogenic 560327 rs1568362644 GRCh37: 19:15654822-15654822
GRCh38: 19:15544011-15544011
31 CYP4F22 NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) SNV Pathogenic 560328 rs201129618 GRCh37: 19:15655068-15655068
GRCh38: 19:15544257-15544257
32 CYP4F22 NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) Duplication Pathogenic 279799 rs531800013 GRCh37: 19:15636205-15636206
GRCh38: 19:15525394-15525395
33 CYP4F22 NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys) SNV Pathogenic 560330 rs768098854 GRCh37: 19:15651316-15651316
GRCh38: 19:15540505-15540505
34 CYP4F22 NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) SNV Pathogenic 560331 rs770500550 GRCh37: 19:15648390-15648390
GRCh38: 19:15537579-15537579
35 CYP4F22 NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) SNV Pathogenic 560332 rs1360295659 GRCh37: 19:15662249-15662249
GRCh38: 19:15551438-15551438
36 CYP4F22 NM_173483.4(CYP4F22):c.429dup (p.Leu144fs) Duplication Pathogenic 560333 rs1382435790 GRCh37: 19:15648350-15648351
GRCh38: 19:15537539-15537540
37 CYP4F22 NM_173483.4(CYP4F22):c.367+1G>A SNV Pathogenic 560336 rs1568357749 GRCh37: 19:15640665-15640665
GRCh38: 19:15529854-15529854
38 CYP4F22 NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) SNV Pathogenic 560337 rs769229606 GRCh37: 19:15655039-15655039
GRCh38: 19:15544228-15544228
39 CYP4F22 NM_173483.4(CYP4F22):c.549+5G>C SNV Pathogenic 560338 rs1568360387 GRCh37: 19:15648478-15648478
GRCh38: 19:15537667-15537667
40 CYP4F22 NM_173483.3(CYP4F22):c.1138del (p.Asp380Thrfs) Deletion Pathogenic 560339 rs1568364107 GRCh37: 19:15658918-15658918
GRCh38: 19:15548107-15548107
41 CYP4F22 NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter) SNV Pathogenic 379536 rs745368359 GRCh37: 19:15655038-15655038
GRCh38: 19:15544227-15544227
42 CYP4F22 NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) SNV Pathogenic/Likely pathogenic 560326 rs118091316 GRCh37: 19:15636324-15636324
GRCh38: 19:15525513-15525513
43 CYP4F22 NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) SNV Likely pathogenic 982393 rs770500550 GRCh37: 19:15648390-15648390
GRCh38: 19:15537579-15537579
44 CYP4F22 NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly) SNV Likely pathogenic 633806 rs1449980834 GRCh37: 19:15640533-15640533
GRCh38: 19:15529722-15529722
45 CYP4F22 NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys) SNV Likely pathogenic 633807 rs745942843 GRCh37: 19:15659001-15659001
GRCh38: 19:15548190-15548190
46 CYP4F22 NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) SNV Conflicting interpretations of pathogenicity 560335 rs572278771 GRCh37: 19:15651301-15651301
GRCh38: 19:15540490-15540490
47 CYP4F22 NM_173483.4(CYP4F22):c.1493T>G (p.Leu498Arg) SNV Uncertain significance 633808 rs1568365210 GRCh37: 19:15662179-15662179
GRCh38: 19:15551368-15551368
48 CYP4F22 NM_173483.4(CYP4F22):c.550-11_550-4delinsGGTGACATCTGG Indel Uncertain significance 633809 rs1568360470 GRCh37: 19:15648672-15648679
GRCh38: 19:15537861-15537868
49 CYP4F22 NM_173483.4(CYP4F22):c.20G>A (p.Arg7His) SNV Uncertain significance 510003 rs202066269 GRCh37: 19:15636167-15636167
GRCh38: 19:15525356-15525356
50 CYP4F22 NM_173483.4(CYP4F22):c.-1-1G>A SNV Uncertain significance 632307 rs200464692 GRCh37: 19:15636146-15636146
GRCh38: 19:15525335-15525335

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

72
# 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

Sources for Ichthyosis, Congenital, Autosomal Recessive 5

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