ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIS, LAMELLAR, 4, FORMERLY
LI4, FORMERLY
LAMELLAR ICHTHYOSIS, LATE-ONSET
ARCI8
Number of Symptoms 10
OrphanetNr:
OMIM Id: 613943
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:0000962) Hyperkeratosis 216 / 7739
2
(HPO:0008064) Ichthyosis 108 / 7739
3
(HPO:0000956) Acanthosis nigricans 54 / 7739
4
(OMIM) Fine whitish scales over entire surface of skin 1 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(HPO:0040162) Orthokeratosis 4 / 7739
7
(OMIM) Slight erythema of face 1 / 7739
8
(OMIM) Hypergranulosis 4 / 7739
9
(OMIM) Ichthyosis, diffuse lamellar 1 / 7739
10
(OMIM) Orthokeratosis 3 / 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 Israeli et al. (2011) studied a consanguineous Arab Muslim pedigree in which the index patient, whose skin appeared normal at birth, developed widespread ichthyosis at 5 years of age. At 14 years of age, the entire surface of ...
Molecular genetics OMIM In a consanguineous Arab Muslim pedigree with late-onset ARCI of the lamellar type mapping to chromosome 10q23, Israeli et al. (2011) sequenced 28 candidate genes and identified homozygosity for a 2-bp deletion in the LIPN gene (613924.0001) that ...