IPS
MCID: ICH020
MIFTS: 40

Ichthyosis Prematurity Syndrome (IPS)

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Ichthyosis Prematurity Syndrome

MalaCards integrated aliases for Ichthyosis Prematurity Syndrome:

Name: Ichthyosis Prematurity Syndrome 57 20 72 36 29 13 6 39 70
Ips 57 20 58 72
Ichthyosis Congenita Iv 57 20 72
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® 57 608649
KEGG 36 H00741
MeSH 44 D007057
MESH via Orphanet 45 C536271
UMLS via Orphanet 71 C1837610
Orphanet 58 ORPHA88621
MedGen 41 C1837610
SNOMED-CT via HPO 68 282020008 367494004 49550006
UMLS 70 C1837610

Summaries for Ichthyosis Prematurity Syndrome

GARD : 20 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.

MalaCards based summary : Ichthyosis Prematurity Syndrome, also known as ips, is related to ichthyosis and lymphoma, hodgkin, classic. 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 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 : 72 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 : 73 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 383)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.0 SLC27A4 SLC27A1 RPE65
2 lymphoma, hodgkin, classic 11.0
3 teratoma 10.5
4 autosomal recessive congenital ichthyosis 10.5
5 hair whorl 10.3
6 severe combined immunodeficiency 10.3
7 macular degeneration, age-related, 1 10.2
8 muscular dystrophy 10.2
9 autosomal recessive disease 10.2
10 triiodothyronine receptor auxiliary protein 10.2
11 long qt syndrome 10.2
12 spinal cord injury 10.2
13 amyotrophic lateral sclerosis 1 10.1
14 hepatitis c virus 10.1
15 lateral sclerosis 10.1
16 polyhydramnios 10.1
17 retinitis pigmentosa 10.1
18 muscular dystrophy, duchenne type 10.1
19 ataxia and polyneuropathy, adult-onset 10.1
20 neuroretinitis 10.1
21 retinitis 10.1
22 atrial standstill 1 10.0
23 rett syndrome 10.0
24 telangiectasis 10.0
25 hepatitis c 10.0
26 hypoxia 10.0
27 aging 10.0
28 stroke, ischemic 10.0
29 lymphoma 10.0
30 thrombocytopenia 10.0
31 hyperglycemia 10.0
32 congestive heart failure 10.0
33 retinal degeneration 10.0
34 sickle cell disease 10.0
35 keratitis, hereditary 10.0
36 branchiootic syndrome 1 10.0
37 aspiration pneumonia 10.0
38 respiratory allergy 10.0
39 keratosis 10.0
40 pneumothorax 10.0
41 food allergy 10.0
42 compartment syndrome 10.0
43 hypereosinophilic syndrome 10.0
44 hutchinson-gilford progeria syndrome 10.0
45 ataxia-telangiectasia 10.0
46 yemenite deaf-blind hypopigmentation syndrome 10.0
47 west nile virus 10.0
48 major affective disorder 8 10.0
49 major affective disorder 9 10.0
50 polycystic kidney disease 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 (Updated 05-Apr-2021)

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

Publications for Ichthyosis Prematurity Syndrome

Articles related to Ichthyosis Prematurity Syndrome:

(show all 34)
# Title Authors PMID Year
1
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. 61 6 57
19631310 2009
2
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association. 61 57
16946994 2006
3
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. 61 57
14985385 2004
4
Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. 57
9115920 1997
5
Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene. 61
33319372 2021
6
[A new SLC27A4 mutation associated with ichthyosis prematurity syndrome and compartment syndrome]. 61
31155305 2020
7
Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide. 61
31974308 2020
8
Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65. 61
31595490 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
34
Autosomal Recessive Congenital Ichthyosis 61
20301593 2001

Variations for Ichthyosis Prematurity Syndrome

ClinVar genetic disease variations for Ichthyosis Prematurity Syndrome:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC27A4 NM_005094.4(SLC27A4):c.716-1G>A SNV Pathogenic 5743 rs1588559786 GRCh37: 9:131112590-131112590
GRCh38: 9:128350311-128350311
2 SLC27A4 NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr) SNV Pathogenic 5744 rs137853132 GRCh37: 9:131107546-131107546
GRCh38: 9:128345267-128345267
3 SLC27A4 NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro) SNV Pathogenic 5745 rs137853133 GRCh37: 9:131112614-131112614
GRCh38: 9:128350335-128350335
4 SLC27A4 NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg) SNV Pathogenic 5746 rs137853134 GRCh37: 9:131114938-131114938
GRCh38: 9:128352659-128352659
5 SLC27A4 NM_005094.4(SLC27A4):c.988-2A>G SNV Pathogenic 5747 rs764922350 GRCh37: 9:131115302-131115302
GRCh38: 9:128353023-128353023
6 SLC27A4 NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His) SNV Pathogenic 5748 rs137853135 GRCh37: 9:131118049-131118049
GRCh38: 9:128355770-128355770
7 SLC27A4 NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) SNV Pathogenic 5742 rs137853131 GRCh37: 9:131107776-131107776
GRCh38: 9:128345497-128345497
8 SLC27A4 NM_005094.4(SLC27A4):c.1797_1798AG[1] (p.Glu600fs) Microsatellite Pathogenic/Likely pathogenic 802517 rs758657421 GRCh37: 9:131122635-131122636
GRCh38: 9:128360356-128360357
9 SLC27A4 NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu) SNV Likely pathogenic 978727 GRCh37: 9:131117725-131117725
GRCh38: 9:128355446-128355446
10 SLC27A4 NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met) SNV Likely pathogenic 802516 rs765311079 GRCh37: 9:131117737-131117737
GRCh38: 9:128355458-128355458
11 SLC27A4 NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser) SNV not provided 684535 rs111417655 GRCh37: 9:131115368-131115368
GRCh38: 9:128353089-128353089

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

72
# 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

Cellular components related to Ichthyosis Prematurity Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.8 SLC27A4 SLC27A1 RPE65

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

# Name GO ID Score Top Affiliating Genes
1 fatty acid metabolic process GO:0006631 9.46 SLC27A4 SLC27A1
2 lipid transport GO:0006869 9.43 SLC27A4 SLC27A1
3 long-chain fatty acid metabolic process GO:0001676 9.4 SLC27A4 SLC27A1
4 long-chain fatty acid transport GO:0015909 9.37 SLC27A4 SLC27A1
5 fatty acid transport GO:0015908 9.32 SLC27A4 SLC27A1
6 long-chain fatty acid import GO:0044539 9.26 SLC27A4 SLC27A1
7 lipid transport across blood brain barrier GO:1990379 9.16 SLC27A4 SLC27A1
8 glucose import in response to insulin stimulus GO:0044381 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 ligase activity GO:0016874 9.37 SLC27A4 SLC27A1
2 long-chain fatty acid-CoA ligase activity GO:0004467 9.32 SLC27A4 SLC27A1
3 long-chain fatty acid transporter activity GO:0005324 9.26 SLC27A4 SLC27A1
4 arachidonate-CoA ligase activity GO:0047676 9.16 SLC27A4 SLC27A1
5 very long-chain fatty acid-CoA ligase activity GO:0031957 8.96 SLC27A4 SLC27A1
6 oleoyl-CoA ligase activity GO:0090434 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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