ARCI5
MCID: ICH050
MIFTS: 30

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 56 73 13
Autosomal Recessive Congenital Ichthyosis 5 12 29 6
Arci5 56 12 73
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 56 71
Ichthyosis Congenita Iii 56 73
Nnci 56 73
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive; Nnci 56
Non-Lamellar and Non-Erythrodermic Congenital Autosomal Recessive Ichthyosis 73
Autosomal Recessive Congenital Nonlamellar and Nonerythrodermic Ichthyosis 12
Ichthyosis, Congenital, Autosomal Recessive, Type 5 39
Ichthyosis, Lamellar, 3, Formerly; Li3, Formerly 56
Ichthyosis, Lamellar, 3, Formerly 56
Ichthyosis, Lamellar, 3 71
Lamellar Ichthyosis 3 73
Li3, Formerly 56
Li3 73

Characteristics:

OMIM:

56
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 56 604777
OMIM Phenotypic Series 56 PS242300
MeSH 43 D017490
ICD10 32 Q80.2
UMLS 71 C1858133 C1858142

Summaries for Ichthyosis, Congenital, Autosomal Recessive 5

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). (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 : 73 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:

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:

56
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:

40
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 5

Articles related to Ichthyosis, Congenital, Autosomal Recessive 5:

(show all 12)
# Title Authors PMID Year
1
Rapid detection of homozygous mutations in congenital recessive ichthyosis. 56 6
18034255 2008
2
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 56 6
16436457 2006
3
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 56
20643494 2010
4
Autosomal recessive congenital ichthyosis. 56
19434086 2009
5
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 56
16116617 2005
6
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 56
12780701 2003
7
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 56
10712205 2000
8
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. 56
10712223 2000
9
Transforming Psychiatry from the Classroom to the Clinic: Lessons from the National Neuroscience Curriculum Initiative. 61
31797322 2020
10
Imaging negative stroke: diagnoses and outcomes in intravenous tissue plasminogen activator-treated patients. 61
24103663 2014
11
Safety of tPA in stroke mimics and neuroimaging-negative cerebral ischemia. 61
20335564 2010
12
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 110) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP4F22 NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp)SNV Pathogenic 560311 rs755885838 19:15651436-15651436 19:15540625-15540625
2 CYP4F22 NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu)SNV Pathogenic 560323 rs1159994392 19:15651501-15651501 19:15540690-15540690
3 CYP4F22 NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr)SNV Pathogenic 560312 rs370734976 19:15651506-15651506 19:15540695-15540695
4 CYP4F22 NM_173483.4(CYP4F22):c.940-1G>ASNV Pathogenic 560318 rs1568362605 19:15654781-15654781 19:15543970-15543970
5 CYP4F22 NM_173483.4(CYP4F22):c.981del (p.Glu328fs)deletion Pathogenic 560327 rs1568362644 19:15654822-15654822 19:15544011-15544011
6 CYP4F22 NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly)SNV Pathogenic 560325 rs745368359 19:15655038-15655038 19:15544227-15544227
7 CYP4F22 NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)SNV Pathogenic 560337 rs769229606 19:15655039-15655039 19:15544228-15544228
8 CYP4F22 NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)SNV Pathogenic 560328 rs201129618 19:15655068-15655068 19:15544257-15544257
9 CYP4F22 NM_173483.4(CYP4F22):c.1137-18_1137-4deldeletion Pathogenic 560324 rs1568364101 19:15658901-15658915 19:15548090-15548104
10 CYP4F22 NM_173483.3(CYP4F22):c.1138del (p.Asp380Thrfs)deletion Pathogenic 560339 rs1568364107 19:15658918-15658918 19:15548107-15548107
11 CYP4F22 NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys)SNV Pathogenic 560322 rs1568364117 19:15658945-15658945 19:15548134-15548134
12 CYP4F22 NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys)SNV Pathogenic 560313 rs200581968 19:15661500-15661500 19:15550689-15550689
13 CYP4F22 NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro)SNV Pathogenic 560317 rs144961059 19:15661501-15661501 19:15550690-15550690
14 CYP4F22 NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu)SNV Pathogenic 560314 rs1568365205 19:15662174-15662174 19:15551363-15551363
15 CYP4F22 NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly)SNV Pathogenic 560315 rs1167473603 19:15662218-15662218 19:15551407-15551407
16 CYP4F22 NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter)SNV Pathogenic 560332 rs1360295659 19:15662249-15662249 19:15551438-15551438
17 CYP4F22 NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)SNV Pathogenic 560326 rs118091316 19:15636324-15636324 19:15525513-15525513
18 CYP4F22 NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp)SNV Pathogenic 560306 rs369811073 19:15640539-15640539 19:15529728-15529728
19 CYP4F22 NM_173483.4(CYP4F22):c.367+1G>ASNV Pathogenic 560336 rs1568357749 19:15640665-15640665 19:15529854-15529854
20 CYP4F22 NM_173483.4(CYP4F22):c.421+1G>ASNV Pathogenic 560319 rs773886415 19:15648226-15648226 19:15537415-15537415
21 CYP4F22 NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)duplication Pathogenic 560333 rs1382435790 19:15648350-15648351 19:15537539-15537540
22 CYP4F22 NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys)SNV Pathogenic 560331 rs770500550 19:15648390-15648390 19:15537579-15537579
23 CYP4F22 NM_173483.4(CYP4F22):c.467G>A (p.Arg156His)SNV Pathogenic 560320 rs776275777 19:15648391-15648391 19:15537580-15537580
24 CYP4F22 NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe)indel Pathogenic 560307 rs1568360348 19:15648417-15648423 19:15537606-15537612
25 CYP4F22 NM_173483.4(CYP4F22):c.549+5G>CSNV Pathogenic 560338 rs1568360387 19:15648478-15648478 19:15537667-15537667
26 CYP4F22 NM_173483.4(CYP4F22):c.550-2A>TSNV Pathogenic 560308 rs1568360475 19:15648681-15648681 19:15537870-15537870
27 CYP4F22 NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr)SNV Pathogenic 560309 rs1568360526 19:15648725-15648725 19:15537914-15537914
28 CYP4F22 NM_173483.4(CYP4F22):c.641_642GT[1] (p.Val215fs)short repeat Pathogenic 560310 rs1568360554 19:15648773-15648774 19:15537962-15537963
29 CYP4F22 NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu)SNV Pathogenic 560321 rs1568361250 19:15651286-15651286 19:15540475-15540475
30 CYP4F22 NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter)SNV Pathogenic 420584 rs762667660 19:15654818-15654818 19:15544007-15544007
31 CYP4F22 NM_173483.4(CYP4F22):c.716_719TGTC[1] (p.Val241fs)short repeat Pathogenic 560316 rs751937099 19:15651303-15651306 19:15540492-15540495
32 CYP4F22 NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)SNV Pathogenic 560330 rs768098854 19:15651316-15651316 19:15540505-15540505
33 CYP4F22 NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)SNV Pathogenic 909 rs118203935 19:15659981-15659981 19:15549170-15549170
34 CYP4F22 NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp)SNV Pathogenic 910 rs118203936 19:15659984-15659984 19:15549173-15549173
35 CYP4F22 NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)SNV Pathogenic 911 rs118203937 19:15651317-15651317 19:15540506-15540506
36 CYP4F22 CYP4F22, EX3-12DELdeletion Pathogenic 912
37 CYP4F22 CYP4F22, TRP521TERSNV Pathogenic 39560
38 CYP4F22 NM_173483.4(CYP4F22):c.59dup (p.Ile21fs)duplication Pathogenic 279799 rs531800013 19:15636205-15636206 19:15525394-15525395
39 CYP4F22 NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter)SNV Pathogenic 379536 rs745368359 19:15655038-15655038 19:15544227-15544227
40 CYP4F22 NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly)SNV Likely pathogenic 633806 rs1449980834 19:15640533-15640533 19:15529722-15529722
41 CYP4F22 NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys)SNV Likely pathogenic 633807 rs745942843 19:15659001-15659001 19:15548190-15548190
42 CYP4F22 NM_173483.4(CYP4F22):c.20G>A (p.Arg7His)SNV Conflicting interpretations of pathogenicity 510003 rs202066269 19:15636167-15636167 19:15525356-15525356
43 CYP4F22 NM_173483.4(CYP4F22):c.776C>G (p.Ala259Gly)SNV Conflicting interpretations of pathogenicity 723412 19:15651365-15651365 19:15540554-15540554
44 CYP4F22 NM_173483.4(CYP4F22):c.387T>C (p.Asp129=)SNV Conflicting interpretations of pathogenicity 328428 rs150739429 19:15648191-15648191 19:15537380-15537380
45 CYP4F22 NM_173483.4(CYP4F22):c.659G>C (p.Ser220Thr)SNV Uncertain significance 328432 rs371097842 19:15648792-15648792 19:15537981-15537981
46 CYP4F22 NM_173483.4(CYP4F22):c.736C>T (p.Arg246Cys)SNV Uncertain significance 328436 rs148977089 19:15651325-15651325 19:15540514-15540514
47 CYP4F22 NM_173483.4(CYP4F22):c.1270+5C>TSNV Uncertain significance 328446 rs758198588 19:15659057-15659057 19:15548246-15548246
48 CYP4F22 NM_173483.4(CYP4F22):c.1551G>T (p.Glu517Asp)SNV Uncertain significance 328448 rs777194622 19:15662237-15662237 19:15551426-15551426
49 CYP4F22 NM_173483.4(CYP4F22):c.*430C>GSNV Uncertain significance 328457 rs551530110 19:15662712-15662712 19:15551901-15551901
50 CYP4F22 NM_173483.4(CYP4F22):c.*812T>GSNV Uncertain significance 328460 rs746243661 19:15663094-15663094 19:15552283-15552283

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

73
# 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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