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Ichthyosis prematurity syndrome(IPS)

MedGen UID:
324839
Concept ID:
C1837610
Disease or Syndrome
Synonyms: Ichthyosis congenita IV; IPS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SLC27A4 (9q34.11)
OMIM®: 608649
Orphanet: ORPHA88621

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis prematurity syndrome
Follow this link to review classifications for Ichthyosis prematurity syndrome in Orphanet.

Recent clinical studies

Etiology

Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Blaas HG, Salvesen KÅ, Khnykin D, Jahnsen FL, Eik-Nes SH
Ultrasound Obstet Gynecol 2012 Apr;39(4):473-7. Epub 2012 Mar 12 doi: 10.1002/uog.9014. PMID: 21465607
Vahlquist A
Acta Derm Venereol 2010 Sep;90(5):454-60. doi: 10.2340/00015555-0937. PMID: 20814618
Melin M, Klar J, Jr Gedde-Dahl T, Fredriksson R, Hausser I, Brandrup F, Bygum A, Vahlquist A, Hellström Pigg M, Dahl N
J Hum Genet 2006;51(10):864-71. Epub 2006 Sep 1 doi: 10.1007/s10038-006-0035-z. PMID: 16946994

Diagnosis

Claus S, Terliesner N, Simon JC, Treudler R
J Dtsch Dermatol Ges 2016 Apr;14(4):435-7. Epub 2016 Mar 12 doi: 10.1111/ddg.12862. PMID: 26972371
Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Khnykin D, Rønnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL
J Am Acad Dermatol 2012 Apr;66(4):606-16. Epub 2011 Aug 19 doi: 10.1016/j.jaad.2011.04.014. PMID: 21856041
Vahlquist A
Acta Derm Venereol 2010 Sep;90(5):454-60. doi: 10.2340/00015555-0937. PMID: 20814618
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129

Prognosis

Kiely C, Devaney D, Fischer J, Lenane P, Irvine AD
Pediatr Dermatol 2014 Jul-Aug;31(4):517-8. Epub 2014 May 29 doi: 10.1111/pde.12320. PMID: 24889544
Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Blaas HG, Salvesen KÅ, Khnykin D, Jahnsen FL, Eik-Nes SH
Ultrasound Obstet Gynecol 2012 Apr;39(4):473-7. Epub 2012 Mar 12 doi: 10.1002/uog.9014. PMID: 21465607
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129

Clinical prediction guides

Kiely C, Devaney D, Fischer J, Lenane P, Irvine AD
Pediatr Dermatol 2014 Jul-Aug;31(4):517-8. Epub 2014 May 29 doi: 10.1111/pde.12320. PMID: 24889544
Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Blaas HG, Salvesen KÅ, Khnykin D, Jahnsen FL, Eik-Nes SH
Ultrasound Obstet Gynecol 2012 Apr;39(4):473-7. Epub 2012 Mar 12 doi: 10.1002/uog.9014. PMID: 21465607
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129

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