ARCI10
MCID: ICH039
MIFTS: 27

Ichthyosis, Congenital, Autosomal Recessive 10 (ARCI10)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 10

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 10:

Name: Ichthyosis, Congenital, Autosomal Recessive 10 57 72 13 70
Autosomal Recessive Congenital Ichthyosis 10 12 29 6
Arci10 57 12 72
Ichthyosis, Congenital, Autosomal Recessive, Type 10 39

Characteristics:

OMIM®:

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


HPO:

31
ichthyosis, congenital, autosomal recessive 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060719
OMIM® 57 615024
OMIM Phenotypic Series 57 PS242300
MeSH 44 D017490
ICD10 32 Q80.2
UMLS 70 C3554355

Summaries for Ichthyosis, Congenital, Autosomal Recessive 10

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 discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (615024) (Updated 20-May-2021)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 10, is also known as autosomal recessive congenital ichthyosis 10. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 10 is PNPLA1 (Patatin Like Phospholipase Domain Containing 1). Affiliated tissues include skin and eye, and related phenotypes are palmoplantar keratoderma and erythroderma

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has material basis in homozygous mutation in the PNPLA1 gene on chromosome 6p21.

UniProtKB/Swiss-Prot : 72 Ichthyosis, congenital, autosomal recessive 10: 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 10

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 10:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 erythroderma 31 HP:0001019
3 congenital ichthyosiform erythroderma 31 HP:0007431
4 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
palmoplantar keratoderma
collodion membrane at birth
ichthyosis, generalized, including flexures
fine greyish-white scales
moderate erythroderma
more
Skin Nails Hair Skin Electron Microscopy:
more than 40 layers of cornified lamellae
numerous vesicular structures within granular layer cells

Skin Nails Hair Skin Histology:
hypergranulosis
thick cornified layer
marked desquamation of upper loosely packed scales
increased amounts of keratohyalin
regularly spaced holes in granular layer

Clinical features from OMIM®:

615024 (Updated 20-May-2021)

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 10

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 10

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 10

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 10:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 10 29 PNPLA1

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 10

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 10:

40
Skin, Eye

Publications for Ichthyosis, Congenital, Autosomal Recessive 10

Articles related to Ichthyosis, Congenital, Autosomal Recessive 10:

(show all 12)
# Title Authors PMID Year
1
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 6 57
28403545 2017
2
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. 6 57
26691440 2016
3
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. 6 57
24344921 2014
4
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. 57 6
22246504 2012
5
Autosomal dominant lamellar ichthyosis. 57 6
3757302 1986
6
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. 6
28369476 2017
7
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 57
20643494 2010
8
Autosomal recessive congenital ichthyosis. 57
19434086 2009
9
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 57
16436457 2006
10
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 57
16116617 2005
11
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 57
12780701 2003
12
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 57
10712205 2000

Variations for Ichthyosis, Congenital, Autosomal Recessive 10

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 10:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNPLA1 NM_173676.2(PNPLA1):c.106G>T (p.Glu36Ter) SNV Pathogenic 39561 rs1561864453 GRCh37: 6:36259282-36259282
GRCh38: 6:36291505-36291505
2 PNPLA1 NM_173676.2(PNPLA1):c.-80-20685C>T SNV Pathogenic 39562 rs1561853847 GRCh37: 6:36238412-36238412
GRCh38: 6:36270635-36270635
3 PNPLA1 NM_173676.2(PNPLA1):c.-80-20761G>A SNV Pathogenic 625427 rs1182312612 GRCh37: 6:36238336-36238336
GRCh38: 6:36270559-36270559
4 PNPLA1 NM_173676.2(PNPLA1):c.102C>A (p.Asp34Glu) SNV Pathogenic 617846 rs200806519 GRCh37: 6:36259278-36259278
GRCh38: 6:36291501-36291501
5 PNPLA1 NM_173676.2(PNPLA1):c.361T>C (p.Cys121Arg) SNV Pathogenic 451071 rs1554138062 GRCh37: 6:36262108-36262108
GRCh38: 6:36294331-36294331
6 PNPLA1 NM_173676.2(PNPLA1):c.442_444TAC[2] (p.Tyr150del) Microsatellite Pathogenic 633818 rs1582086407 GRCh37: 6:36263153-36263155
GRCh38: 6:36295376-36295378
7 PNPLA1 NM_173676.2(PNPLA1):c.133T>C (p.Ser45Pro) SNV Pathogenic/Likely pathogenic 375256 rs781053760 GRCh37: 6:36259309-36259309
GRCh38: 6:36291532-36291532
8 PNPLA1 NM_173676.2(PNPLA1):c.-20C>T SNV Likely pathogenic 375259 rs922934422 GRCh37: 6:36259157-36259157
GRCh38: 6:36291380-36291380
9 PNPLA1 NM_173676.2(PNPLA1):c.535del (p.Arg179fs) Deletion Likely pathogenic 375255 rs1170446813 GRCh37: 6:36269678-36269678
GRCh38: 6:36301901-36301901
10 PNPLA1 NM_173676.2(PNPLA1):c.65C>T (p.Thr22Met) SNV Likely pathogenic 375257 rs371307766 GRCh37: 6:36259241-36259241
GRCh38: 6:36291464-36291464
11 PNPLA1 NM_173676.2(PNPLA1):c.50C>A (p.Ser17Tyr) SNV Likely pathogenic 375258 rs369445146 GRCh37: 6:36259226-36259226
GRCh38: 6:36291449-36291449
12 PNPLA1 NM_173676.2(PNPLA1):c.-80-20805C>G SNV Likely pathogenic 633796 rs1373230987 GRCh37: 6:36238292-36238292
GRCh38: 6:36270515-36270515
13 PNPLA1 NM_173676.2(PNPLA1):c.-80-20712C>A SNV Likely pathogenic 633797 rs533584507 GRCh37: 6:36238385-36238385
GRCh38: 6:36270608-36270608
14 PNPLA1 NM_173676.2(PNPLA1):c.329C>T (p.Pro110Leu) SNV Likely pathogenic 633798 rs766215523 GRCh37: 6:36262076-36262076
GRCh38: 6:36294299-36294299
15 PNPLA1 NM_173676.2(PNPLA1):c.452G>C (p.Arg151Pro) SNV Likely pathogenic 633799 rs746575171 GRCh37: 6:36263163-36263163
GRCh38: 6:36295386-36295386
16 PNPLA1 NM_173676.2(PNPLA1):c.-80-20651G>A SNV Uncertain significance 633800 rs1561853887 GRCh37: 6:36238446-36238446
GRCh38: 6:36270669-36270669
17 PNPLA1 NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=) SNV Uncertain significance 716455 rs371283191 GRCh37: 6:36238395-36238395
GRCh38: 6:36270618-36270618
18 PNPLA1 NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=) SNV Uncertain significance 904729 GRCh37: 6:36259119-36259119
GRCh38: 6:36291342-36291342
19 PNPLA1 NM_001374623.1(PNPLA1):c.231G>C (p.Val77=) SNV Uncertain significance 904730 GRCh37: 6:36259122-36259122
GRCh38: 6:36291345-36291345
20 PNPLA1 NM_173676.2(PNPLA1):c.777T>G (p.Pro259=) SNV Uncertain significance 356573 rs761075511 GRCh37: 6:36269924-36269924
GRCh38: 6:36302147-36302147
21 PNPLA1 NM_173676.2(PNPLA1):c.*618G>A SNV Uncertain significance 356584 rs535470541 GRCh37: 6:36276111-36276111
GRCh38: 6:36308334-36308334
22 PNPLA1 NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=) SNV Uncertain significance 904731 GRCh37: 6:36259167-36259167
GRCh38: 6:36291390-36291390
23 PNPLA1 NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=) SNV Uncertain significance 904732 GRCh37: 6:36259206-36259206
GRCh38: 6:36291429-36291429
24 PNPLA1 NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys) SNV Uncertain significance 904733 GRCh37: 6:36259274-36259274
GRCh38: 6:36291497-36291497
25 PNPLA1 NM_001374623.1(PNPLA1):c.1299G>A (p.Gly433=) SNV Uncertain significance 780618 rs767322248 GRCh37: 6:36270161-36270161
GRCh38: 6:36302384-36302384
26 PNPLA1 NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg) SNV Uncertain significance 904799 GRCh37: 6:36270190-36270190
GRCh38: 6:36302413-36302413
27 PNPLA1 NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser) SNV Uncertain significance 904800 GRCh37: 6:36270201-36270201
GRCh38: 6:36302424-36302424
28 PNPLA1 NM_001374623.1(PNPLA1):c.1343C>T (p.Ala448Val) SNV Uncertain significance 712557 rs141744967 GRCh37: 6:36270205-36270205
GRCh38: 6:36302428-36302428
29 PNPLA1 NM_173676.2(PNPLA1):c.390C>T (p.Ile130=) SNV Uncertain significance 356560 rs886061374 GRCh37: 6:36262137-36262137
GRCh38: 6:36294360-36294360
30 PNPLA1 NM_173676.2(PNPLA1):c.89C>A (p.Thr30Asn) SNV Uncertain significance 437456 rs1554137705 GRCh37: 6:36259265-36259265
GRCh38: 6:36291488-36291488
31 PNPLA1 NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile) SNV Uncertain significance 904801 GRCh37: 6:36274149-36274149
GRCh38: 6:36306372-36306372
32 PNPLA1 NM_001374623.1(PNPLA1):c.439-6G>A SNV Uncertain significance 905518 GRCh37: 6:36260832-36260832
GRCh38: 6:36293055-36293055
33 PNPLA1 NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) SNV Uncertain significance 905519 GRCh37: 6:36262017-36262017
GRCh38: 6:36294240-36294240
34 PNPLA1 NM_001374623.1(PNPLA1):c.1469+10C>G SNV Uncertain significance 905588 GRCh37: 6:36274163-36274163
GRCh38: 6:36306386-36306386
35 PNPLA1 NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=) SNV Uncertain significance 905589 GRCh37: 6:36275487-36275487
GRCh38: 6:36307710-36307710
36 PNPLA1 NM_001374623.1(PNPLA1):c.1595+550A>G SNV Uncertain significance 906101 GRCh37: 6:36276039-36276039
GRCh38: 6:36308262-36308262
37 PNPLA1 NM_001374623.1(PNPLA1):c.1595+777A>T SNV Uncertain significance 907103 GRCh37: 6:36276266-36276266
GRCh38: 6:36308489-36308489
38 PNPLA1 NM_001374623.1(PNPLA1):c.1595+842C>T SNV Uncertain significance 907104 GRCh37: 6:36276331-36276331
GRCh38: 6:36308554-36308554
39 PNPLA1 NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=) SNV Uncertain significance 908038 GRCh37: 6:36238323-36238323
GRCh38: 6:36270546-36270546
40 PNPLA1 NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val) SNV Uncertain significance 908039 GRCh37: 6:36238328-36238328
GRCh38: 6:36270551-36270551
41 PNPLA1 NM_173676.2(PNPLA1):c.*636G>A SNV Uncertain significance 356585 rs137961117 GRCh37: 6:36276129-36276129
GRCh38: 6:36308352-36308352
42 PNPLA1 NM_173676.2(PNPLA1):c.87C>T (p.Leu29=) SNV Uncertain significance 356556 rs185312959 GRCh37: 6:36259263-36259263
GRCh38: 6:36291486-36291486
43 PNPLA1 NM_173676.2(PNPLA1):c.1135G>A (p.Ala379Thr) SNV Uncertain significance 356575 rs139909055 GRCh37: 6:36274104-36274104
GRCh38: 6:36306327-36306327
44 PNPLA1 NM_173676.2(PNPLA1):c.154-7C>T SNV Uncertain significance 356558 rs373711651 GRCh37: 6:36260831-36260831
GRCh38: 6:36293054-36293054
45 PNPLA1 NM_173676.2(PNPLA1):c.*410C>T SNV Uncertain significance 356579 rs886061377 GRCh37: 6:36275903-36275903
GRCh38: 6:36308126-36308126
46 PNPLA1 NM_173676.2(PNPLA1):c.528T>A (p.Ile176=) SNV Uncertain significance 356565 rs201231660 GRCh37: 6:36269675-36269675
GRCh38: 6:36301898-36301898
47 PNPLA1 NM_173676.2(PNPLA1):c.649A>G (p.Lys217Glu) SNV Uncertain significance 356568 rs199548644 GRCh37: 6:36269796-36269796
GRCh38: 6:36302019-36302019
48 PNPLA1 NM_173676.2(PNPLA1):c.459C>T (p.Tyr153=) SNV Uncertain significance 356563 rs139173161 GRCh37: 6:36263170-36263170
GRCh38: 6:36295393-36295393
49 PNPLA1 NM_173676.2(PNPLA1):c.153+10C>T SNV Uncertain significance 356557 rs886061373 GRCh37: 6:36259339-36259339
GRCh38: 6:36291562-36291562
50 PNPLA1 NM_173676.2(PNPLA1):c.668G>A (p.Gly223Glu) SNV Uncertain significance 356569 rs143843185 GRCh37: 6:36269815-36269815
GRCh38: 6:36302038-36302038

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 10:

72
# Symbol AA change Variation ID SNP ID
1 PNPLA1 p.Ala59Val VAR_069566 rs156185384
2 PNPLA1 p.Ala34Thr VAR_084012 rs118231261

Expression for Ichthyosis, Congenital, Autosomal Recessive 10

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 10.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 10

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 10

Sources for Ichthyosis, Congenital, Autosomal Recessive 10

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