ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5

General Information (adopted from Orphanet):

Synonyms, Signs: LI3, FORMERLY
ICHTHYOSIS, LAMELLAR, 3, FORMERLY
ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE
ICHTHYOSIS CONGENITA III
ARCI5
NNCI
Number of Symptoms 21
OrphanetNr:
OMIM Id: 604777
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:0000972) Palmoplantar hyperkeratosis 41 / 7739
2
 (HPO:0007447) Diffuse palmoplantar hyperkeratosis 8 / 7739
3
 (HPO:0001036) Parakeratosis 12 / 7739
4
 (HPO:0001019) Erythroderma Occasional [HPO:probinson] 24 / 7739
5
 (HPO:0000982) Palmoplantar keratoderma Occasional [HPO:probinson] 40 / 7739
6
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
7
 (HPO:0000962) Hyperkeratosis 216 / 7739
8
 (HPO:0001927) Acanthocytosis 11 / 7739
9
 (OMIM) Orthokeratosis 3 / 7739
10
 (OMIM) Scales on scalp (in some patients) 1 / 7739
11
 (HPO:0040162) Orthokeratosis rare [HPO:skoehler] 4 / 7739
12
 (OMIM) Dilation of dermal capillaries 1 / 7739
13
 (OMIM) Perivascular lymphocytic infiltrate, dermal, mild 2 / 7739
14
 (OMIM) Hyperlinearity of palms (in some patients) 1 / 7739
15
 (OMIM) Thickening of stratum corneum, mild 1 / 7739
16
 (OMIM) Parakeratosis, moderate 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Granular layer normal or slightly prominent 1 / 7739
19
 (OMIM) Collodion membrane at birth 10 / 7739
20
 (OMIM) Fine white or greyish-white scales 1 / 7739
21
 (OMIM) Acanthosis, moderate 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 Virolainen et al. (2000) reported a Finnish family in which all affected members displayed a nonlamellar, nonerythrodermic ichthyosis phenotype not directly resembling either classic lamellar ichthyosiform or classic erythrodermic congenital ichthyosiform erythroderma. Scales in the skin were fine ...
Molecular genetics OMIM In 12 consanguineous Mediterranean families with lamellar ARCI, Lefevre et al. (2006) identified 7 different mutations in the CYP4F22 gene (see, e.g., 611495.0001-611495.0004).

In 4 affected individuals from a large consanguineous Israeli Druze family with ARCI, ...