Syndromic X-linked ichthyosis

General Information (adopted from Orphanet):

Synonyms, Signs: STEROID SULFATASE DEFICIENCY DISEASE
STS DEFICIENCY
SSDD ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED
STEROID SULFATASE DEFICIENCY
PLACENTAL STEROID SULFATASE DEFICIENCY
XLI
Syndromic RXLI
Syndromic recessive X-linked ichthyosis
Number of Symptoms 38
OrphanetNr: 281090
OMIM Id: 308100
ICD-10: Q80.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked ichthyosis syndrome
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0010788) Testicular neoplasm Occasional [Orphanet] 10 / 7739
2
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
5
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
6
 (HPO:0004408) Abnormality of the sense of smell Occasional [Orphanet] 28 / 7739
7
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
8
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
9
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
10
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
11
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
12
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
13
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
14
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
15
 (HPO:0004298) Abnormality of the abdominal wall Occasional [Orphanet] 20 / 7739
16
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
17
 (HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
18
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
19
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
20
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
21
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
22
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
23
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
24
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
25
 (HPO:0002664) Neoplasm 111 / 7739
26
 (OMIM) Protracted delivery 1 / 7739
27
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
28
 (OMIM) Skin lesions are usually symmetrical 1 / 7739
29
 (OMIM) Vision is usually not affected 1 / 7739
30
 (OMIM) Decreased or absent steroid sulfatase activity 1 / 7739
31
 (OMIM) Increased risk of testicular cancer 1 / 7739
32
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
33
 (OMIM) Sparing of flexure areas, palms, and soles 1 / 7739
34
 (OMIM) Lesions are often brownish colored 1 / 7739
35
 (OMIM) Lesions occur mainly on extremities, scalp, neck, and trunk 1 / 7739
36
 (OMIM) Pregnant mothers of affected children have decreased plasma and urinary estrogen 1 / 7739
37
 (OMIM) Corneal opacities on slit-lamp examination 2 / 7739
38
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris (146700), which is caused by mutations in the filaggrin gene (FLG; 135940). Ichthyosis can also be observed in multiple sulfatase deficiency (272200) (Shapiro, ...
Diagnosis OMIM Shapiro et al. (1978) identified placental steroid sulfatase deficiency by measuring estriol in the urine of pregnant women as an indication of a gestational abnormality.

Lake et al. (1991) developed a histochemical method for demonstration of ...
Clinical Description OMIM Csorsz (1928) reported a Hungarian family with X-linked ichthyosis. There were 2 affected females who were presumed to be homozygous. Schlammadinger et al. (1987) restudied the Hungarian family reported by Csorsz (1928). A female member of the family ...
Molecular genetics OMIM In 12 steroid sulfatase-deficient patients, including 8 cases of classic ichthyosis, Ballabio et al. (1987) found deletion of the STS gene using a specific probe. One of the patients had been reported by Ballabio et al. (1986) as ...
Population genetics OMIM X-linked recessive ichthyosis occurs in about 1 in 6,000 males studied in various populations (Shapiro et al., 1978).