IPS
MCID: ICH020
MIFTS: 40

Ichthyosis Prematurity Syndrome (IPS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Prematurity Syndrome

MalaCards integrated aliases for Ichthyosis Prematurity Syndrome:

Name: Ichthyosis Prematurity Syndrome 56 52 73 36 29 13 6 39 71
Ips 56 52 58 73
Ichthyosis Congenita Iv 56 52 73
Ichthyosis-Prematurity Syndrome 58
Congenital Ichthyosis Type 4 58

Characteristics:

Orphanet epidemiological data:

58
ichthyosis-prematurity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 608649
KEGG 36 H00741
MeSH 43 D007057
MESH via Orphanet 44 C536271
UMLS via Orphanet 72 C1837610
Orphanet 58 ORPHA88621
MedGen 41 C1837610
SNOMED-CT via HPO 68 282020008 367494004 49550006
UMLS 71 C1837610

Summaries for Ichthyosis Prematurity Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88621 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ichthyosis Prematurity Syndrome, also known as ips, is related to ichthyosis and congenital disorder of glycosylation, type ip. An important gene associated with Ichthyosis Prematurity Syndrome is SLC27A4 (Solute Carrier Family 27 Member 4), and among its related pathways/superpathways are Insulin resistance and Transport of vitamins, nucleosides, and related molecules. Affiliated tissues include skin and testes, and related phenotypes are ichthyosis and neonatal respiratory distress

KEGG : 36 Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease harbor mutations in the gene encoding the fatty acid transport protein 4 (FATP4).

UniProtKB/Swiss-Prot : 73 Ichthyosis prematurity syndrome: A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations.

Wikipedia : 74 Ichthyosis prematurity syndrome (IPS) is a dermatological disease with known genetic causes. This... more...

More information from OMIM: 608649

Related Diseases for Ichthyosis Prematurity Syndrome

Diseases related to Ichthyosis Prematurity Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 429)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.1 SLC27A4 SLC27A1
2 congenital disorder of glycosylation, type ip 12.6
3 incontinentia pigmenti 12.5
4 lymphoma, hodgkin, classic 11.6
5 ectodermal dysplasia and immunodeficiency 1 11.6
6 teratoma 10.6
7 autosomal recessive congenital ichthyosis 10.4
8 ovarian cancer 10.4
9 hair whorl 10.3
10 severe combined immunodeficiency 10.3
11 macular degeneration, age-related, 1 10.3
12 muscular dystrophy 10.3
13 peritonitis 10.2
14 spinal cord injury 10.2
15 pertussis 10.2
16 long qt syndrome 10.2
17 amyotrophic lateral sclerosis 1 10.2
18 lateral sclerosis 10.2
19 liver disease 10.2
20 triiodothyronine receptor auxiliary protein 10.2
21 pulmonary hypertension, primary, 1 10.1
22 retinitis pigmentosa 10.1
23 muscular dystrophy, duchenne type 10.1
24 neuroretinitis 10.1
25 retinitis 10.1
26 autosomal recessive disease 10.1
27 ataxia and polyneuropathy, adult-onset 10.1
28 rett syndrome 10.1
29 telangiectasis 10.1
30 cholera 10.1
31 thrombocytopenia 10.1
32 neuroblastoma 10.1
33 retinal degeneration 10.1
34 hypoxia 10.1
35 polyhydramnios 10.0
36 alzheimer disease 10.0
37 atrial standstill 1 10.0
38 pulmonary hypertension 10.0
39 neutropenia 10.0
40 bipolar disorder 10.0
41 hyperglycemia 10.0
42 sickle cell disease 10.0
43 huntington disease 10.0
44 hutchinson-gilford progeria syndrome 10.0
45 ataxia-telangiectasia 10.0
46 autism 10.0
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
48 hypomelanosis of ito 10.0
49 yemenite deaf-blind hypopigmentation syndrome 10.0
50 major affective disorder 8 10.0

Graphical network of the top 20 diseases related to Ichthyosis Prematurity Syndrome:



Diseases related to Ichthyosis Prematurity Syndrome

Symptoms & Phenotypes for Ichthyosis Prematurity Syndrome

Human phenotypes related to Ichthyosis Prematurity Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
2 neonatal respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002643
3 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
4 eosinophilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001880
5 desquamation of skin soon after birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0007549

Clinical features from OMIM:

608649

Drugs & Therapeutics for Ichthyosis Prematurity Syndrome

Search Clinical Trials , NIH Clinical Center for Ichthyosis Prematurity Syndrome

Genetic Tests for Ichthyosis Prematurity Syndrome

Genetic tests related to Ichthyosis Prematurity Syndrome:

# Genetic test Affiliating Genes
1 Ichthyosis Prematurity Syndrome 29 SLC27A4

Anatomical Context for Ichthyosis Prematurity Syndrome

MalaCards organs/tissues related to Ichthyosis Prematurity Syndrome:

40
Skin, Testes

Publications for Ichthyosis Prematurity Syndrome

Articles related to Ichthyosis Prematurity Syndrome:

(show all 33)
# Title Authors PMID Year
1
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. 6 56 61
19631310 2009
2
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association. 61 56
16946994 2006
3
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. 56 61
14985385 2004
4
Autosomal Recessive Congenital Ichthyosis 6 61
20301593 2001
5
Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. 56
9115920 1997
6
[A new SLC27A4 mutation associated with ichthyosis prematurity syndrome and compartment syndrome]. 61
31155305 2020
7
Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65. 61
31595490 2020
8
Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide. 61
31974308 2020
9
Fatty acid transport protein 4 is required for incorporation of saturated ultralong-chain fatty acids into epidermal ceramides and monoacylglycerols. 61
31519952 2019
10
Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters. 61
30536735 2019
11
[Ichthyosis prematurity syndrome: Two new cases]. 61
30077338 2018
12
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient. 61
29701233 2018
13
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model. 61
28915122 2018
14
Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome. 61
27168232 2017
15
Ichthyosis Prematurity Syndrome: From Fetus to Adulthood. 61
27224495 2016
16
Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. 61
26341232 2016
17
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India. 61
26783444 2016
18
Fatty acid transport protein 1 can compensate for fatty acid transport protein 4 in the developing mouse epidermis. 61
25184958 2015
19
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome. 61
27081519 2015
20
Ichthyosis prematurity syndrome: a case report and review of known mutations. 61
24889544 2014
21
Fatty acid transporters in skin development, function and disease. 61
24120574 2014
22
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. 61
23290633 2013
23
Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome. 61
23271751 2013
24
Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia. 61
22927265 2012
25
Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome. 61
21465607 2012
26
Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. 61
21856041 2012
27
A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis. 61
23226340 2012
28
Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant. 61
21690550 2011
29
Role of fatty acid transporters in epidermis: Implications for health and disease. 61
21695012 2011
30
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome. 61
21450060 2011
31
Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling. 61
20814618 2010
32
Epidermal hyperproliferation in mice lacking fatty acid transport protein 4 (FATP4) involves ectopic EGF receptor and STAT3 signaling. 61
20513444 2010
33
Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. 61
19119129 2008

Variations for Ichthyosis Prematurity Syndrome

ClinVar genetic disease variations for Ichthyosis Prematurity Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC27A4 NM_005094.4(SLC27A4):c.1797_1798AG[1] (p.Glu600fs)short repeat Pathogenic 802517 9:131122635-131122636 9:128360356-128360357
2 SLC27A4 NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)SNV Pathogenic 5742 rs137853131 9:131107776-131107776 9:128345497-128345497
3 SLC27A4 NM_005094.4(SLC27A4):c.716-1G>ASNV Pathogenic 5743 9:131112590-131112590 9:128350311-128350311
4 SLC27A4 NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)SNV Pathogenic 5744 rs137853132 9:131107546-131107546 9:128345267-128345267
5 SLC27A4 NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro)SNV Pathogenic 5745 rs137853133 9:131112614-131112614 9:128350335-128350335
6 SLC27A4 NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)SNV Pathogenic 5746 rs137853134 9:131114938-131114938 9:128352659-128352659
7 SLC27A4 NM_005094.4(SLC27A4):c.988-2A>GSNV Pathogenic 5747 9:131115302-131115302 9:128353023-128353023
8 SLC27A4 NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His)SNV Pathogenic 5748 rs137853135 9:131118049-131118049 9:128355770-128355770
9 SLC27A4 NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met)SNV Likely pathogenic 802516 9:131117737-131117737 9:128355458-128355458
10 SLC27A4 NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser)SNV not provided 684535 9:131115368-131115368 9:128353089-128353089

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis Prematurity Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SLC27A4 p.Ala92Thr VAR_063192 rs137853132
2 SLC27A4 p.Ser247Pro VAR_063193 rs137853133
3 SLC27A4 p.Gln300Arg VAR_063194 rs137853134
4 SLC27A4 p.Arg583His VAR_063195 rs137853135
5 SLC27A4 p.Arg374Cys VAR_064500 rs768495407

Expression for Ichthyosis Prematurity Syndrome

Search GEO for disease gene expression data for Ichthyosis Prematurity Syndrome.

Pathways for Ichthyosis Prematurity Syndrome

GO Terms for Ichthyosis Prematurity Syndrome

Biological processes related to Ichthyosis Prematurity Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.46 SLC27A4 SLC27A1
2 fatty acid metabolic process GO:0006631 9.43 SLC27A4 SLC27A1
3 lipid transport GO:0006869 9.4 SLC27A4 SLC27A1
4 long-chain fatty acid metabolic process GO:0001676 9.37 SLC27A4 SLC27A1
5 long-chain fatty acid transport GO:0015909 9.32 SLC27A4 SLC27A1
6 fatty acid transport GO:0015908 9.26 SLC27A4 SLC27A1
7 long-chain fatty acid import GO:0044539 9.16 SLC27A4 SLC27A1
8 lipid transport across blood brain barrier GO:1990379 8.96 SLC27A4 SLC27A1
9 medium-chain fatty acid transport GO:0001579 8.62 SLC27A4 SLC27A1

Molecular functions related to Ichthyosis Prematurity Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.37 SLC27A4 SLC27A1
2 ligase activity GO:0016874 9.32 SLC27A4 SLC27A1
3 long-chain fatty acid transporter activity GO:0005324 9.26 SLC27A4 SLC27A1
4 long-chain fatty acid-CoA ligase activity GO:0004467 9.16 SLC27A4 SLC27A1
5 arachidonate-CoA ligase activity GO:0047676 8.96 SLC27A4 SLC27A1
6 very long-chain fatty acid-CoA ligase activity GO:0031957 8.62 SLC27A4 SLC27A1

Sources for Ichthyosis Prematurity Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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