Ichthyosis prematurity syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ICHTHYOSIS CONGENITA IV IPS Congenital ichthyosis type 4 |
| Number of Symptoms | 2 |
| OrphanetNr: | 88621 |
| OMIM Id: |
608649
|
| ICD-10: |
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| UMLs: |
C1837610 |
| MeSH: |
C536271 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 16 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal ichthyosis syndrome with other associated signs
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
|
|
(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Autosomal recessive congenital ichthyosis is a clinically and genetically heterogeneous group of inherited keratinization disorders. The rare subtype ichthyosis prematurity syndrome presents with complications at mid-trimester of pregnancy leading to prematurity, a thick caseous and desquamating skin, respiratory ... |
| Molecular genetics OMIM |
Klar et al. (2009) performed sequence analysis of the FATP4 gene in a North African family, a Middle Eastern family, and 18 families of Scandinavian origin segregating IPS. They identified 7 different mutations. All affected members of the ... |
| Population genetics OMIM |
IPS has a high prevalence in a small geographic region in middle Norway and adjacent Sweden (see Anton-Lamprecht, 1992 and Klar et al., 2004). Cases have been reported in other ethnic groups (see, e.g., Niemi et al., 1993 ... |