ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10

General Information (adopted from Orphanet):

Synonyms, Signs: ARCI10
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615024
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
2
(HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
3
(OMIM) Moderate erythroderma 1 / 7739
4
(OMIM) Ichthyosis, generalized, including flexures 1 / 7739
5
(OMIM) Fine greyish-white scales 1 / 7739
6
(OMIM) Regularly spaced holes in granular layer 1 / 7739
7
(OMIM) Squamous pityriasiform appearance of scalp 1 / 7739
8
(OMIM) Numerous vesicular structures within granular layer cells 1 / 7739
9
(OMIM) Collodion membrane at birth 10 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) More than 40 layers of cornified lamellae 1 / 7739
12
(OMIM) Increased amounts of keratohyalin 1 / 7739
13
(OMIM) Marked desquamation of upper loosely packed scales 1 / 7739
14
(OMIM) Thick cornified layer 1 / 7739
15
(OMIM) Hypergranulosis 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Grall et al. (2012) studied 6 affected individuals from 2 families segregating autosomal recessive congenital ichthyosis (ARCI). All were born as collodion babies and later developed generalized ichthyosis, with mild to moderate fine grayish-white scales and moderate erythroderma ...
Molecular genetics OMIM From a cohort of 46 consanguineous ARCI families that had undergone genomewide linkage analysis and in which no causative mutation had been found in genes known to have a role in ARCI, Grall et al. (2012) selected 10 ...