MCID: ICH039
MIFTS: 20

Ichthyosis, Congenital, Autosomal Recessive 10

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal 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 75 13 73
Autosomal Recessive Congenital Ichthyosis 10 12 29 6
Arci10 57 12 75
Ichthyosis, Congenital, Autosomal Recessive, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ichthyosis, congenital, autosomal recessive 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615024
Disease Ontology 12 DOID:0060719
ICD10 33 Q80.2
MeSH 44 D017490
UMLS 73 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 general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (615024)

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 related phenotypes are palmoplantar keratoderma and congenital ichthyosiform 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
collodion membrane at birth
ichthyosis, generalized, including flexures
fine greyish-white scales
moderate erythroderma
palmoplantar keratoderma
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:
thick cornified layer
marked desquamation of upper loosely packed scales
hypergranulosis
increased amounts of keratohyalin
regularly spaced holes in granular layer


Clinical features from OMIM:

615024

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

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 congenital ichthyosiform erythroderma 32 HP:0007431
3 hypergranulosis 32 HP:0025114

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:

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 10

Variations for Ichthyosis, Congenital, Autosomal Recessive 10

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

75
# Symbol AA change Variation ID SNP ID
1 PNPLA1 p.Ala59Val VAR_069566

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

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPLA1 PNPLA1, GLU131TER single nucleotide variant Pathogenic
2 PNPLA1 PNPLA1, ALA59VAL single nucleotide variant Pathogenic
3 PNPLA1 NM_001145717.1(PNPLA1): c.820_820delC (p.Arg274Glyfs) deletion Likely pathogenic GRCh37 Chromosome 6, 36269682: 36269682
4 PNPLA1 NM_001145717.1(PNPLA1): c.820_820delC (p.Arg274Glyfs) deletion Likely pathogenic GRCh38 Chromosome 6, 36301905: 36301905
5 PNPLA1 NM_001145717.1(PNPLA1): c.418T> C (p.Ser140Pro) single nucleotide variant Likely pathogenic rs781053760 GRCh37 Chromosome 6, 36259309: 36259309
6 PNPLA1 NM_001145717.1(PNPLA1): c.418T> C (p.Ser140Pro) single nucleotide variant Likely pathogenic rs781053760 GRCh38 Chromosome 6, 36291532: 36291532
7 PNPLA1 NM_001145717.1(PNPLA1): c.350C> T (p.Thr117Met) single nucleotide variant Likely pathogenic rs371307766 GRCh37 Chromosome 6, 36259241: 36259241
8 PNPLA1 NM_001145717.1(PNPLA1): c.350C> T (p.Thr117Met) single nucleotide variant Likely pathogenic rs371307766 GRCh38 Chromosome 6, 36291464: 36291464
9 PNPLA1 NM_001145717.1(PNPLA1): c.335C> A (p.Ser112Tyr) single nucleotide variant Likely pathogenic rs369445146 GRCh37 Chromosome 6, 36259226: 36259226
10 PNPLA1 NM_001145717.1(PNPLA1): c.335C> A (p.Ser112Tyr) single nucleotide variant Likely pathogenic rs369445146 GRCh38 Chromosome 6, 36291449: 36291449
11 PNPLA1 NM_001145717.1(PNPLA1): c.266C> T (p.Pro89Leu) single nucleotide variant Likely pathogenic rs922934422 GRCh37 Chromosome 6, 36259157: 36259157
12 PNPLA1 NM_001145717.1(PNPLA1): c.266C> T (p.Pro89Leu) single nucleotide variant Likely pathogenic rs922934422 GRCh38 Chromosome 6, 36291380: 36291380
13 PNPLA1 NM_001145717.1(PNPLA1): c.374C> A (p.Thr125Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 36259265: 36259265
14 PNPLA1 NM_001145717.1(PNPLA1): c.374C> A (p.Thr125Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 36291488: 36291488

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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