SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIS, SJOGREN-LARSSON-LIKE, WITHOUT CNS OR EYE INVOLVEMENT
Number of Symptoms 9
OrphanetNr:
OMIM Id: 270220
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:0000478) Abnormality of the eye 126 / 7739
2
(HPO:0000707) Abnormality of the nervous system 61 / 7739
3
(HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
4
(HPO:0000962) Hyperkeratosis 216 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Normal 14 / 7739
7
(OMIM) Normal nails 15 / 7739
8
(OMIM) Normal sweating 13 / 7739
9
(OMIM) Normal hair 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gedde-Dahl et al. (1984) described a family in which 2 sisters and a brother with presumably nonconsanguineous parents had ichthyosis of intermediate severity closely resembling the nonscaly hyperkeratosis of the Sjogren-Larsson syndrome (SLS; 270200). Di- or quadriplegia and ...