Details of Disease | DrugMAP

General Information of Disease (ID: DISYD4IG)

Disease Name	Ichthyosis prematurity syndrome
Synonyms	ichthyosis congenita IV; ichthyosis congenita 4; ichthyosis-prematurity syndrome; IPS; idiopathic pneumonia syndrome; congenital ichthyosis type 4; ichthyosis prematurity syndrome
Definition	Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS88E0K: Pneumonitis DISTXWNT: Integumentary system disorder DISYD4IG: Ichthyosis prematurity syndrome
Disease Identifiers	MONDO ID MONDO_0012089 MESH ID C536271 UMLS CUI C1837610 OMIM ID 608649 MedGen ID 324839 Orphanet ID 88621 SNOMED CT ID 763401009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC27A4	TT20AYF	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A4	DTG7V0R	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC27A4	OTWT4HAF	Definitive	Autosomal recessive	[2]
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References

1	Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.FEBS Lett. 2020 Feb;594(3):540-552. doi: 10.1002/1873-3468.13633. Epub 2019 Oct 20.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.