MCID: ICH020
MIFTS: 38

Ichthyosis Prematurity Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Prematurity Syndrome

MalaCards integrated aliases for Ichthyosis Prematurity Syndrome:

Name: Ichthyosis Prematurity Syndrome 57 53 75 37 29 13 6 40 73
Ips 57 53 59 75
Ichthyosis Congenita Iv 57 53 75
Ichthyosis-Prematurity Syndrome 59
Congenital Ichthyosis Type 4 59

Characteristics:

Orphanet epidemiological data:

59
ichthyosis-prematurity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 608649
Orphanet 59 ORPHA88621
MESH via Orphanet 45 C536271
UMLS via Orphanet 74 C1837610
MedGen 42 C1837610
MeSH 44 D007057
KEGG 37 H00741
SNOMED-CT via HPO 69 282020008 367494004 49550006
UMLS 73 C1837610

Summaries for Ichthyosis Prematurity Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 88621Disease definitionIchthyosis 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 congenital disorder of glycosylation, type ip and incontinentia pigmenti. 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 premature birth

UniProtKB/Swiss-Prot : 75 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 : 76 Ichthyosis prematurity syndrome (IPS) is a dermatological disease with known genetic causes. This... more...

Description 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 124)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ip 12.2
2 incontinentia pigmenti 12.1
3 lymphoma, hodgkin, classic 10.9
4 ichthyosis 10.4
5 neuronitis 10.1
6 endotheliitis 9.9
7 prostate cancer 9.9
8 prostatitis 9.9
9 long qt syndrome 9.9
10 neuroblastoma 9.8
11 retinitis 9.8
12 muscular dystrophy 9.8
13 myotonic dystrophy 9.8
14 myotonia atrophica 9.8
15 myotonic dystrophy 1 9.8
16 ovarian cancer 9.8
17 schizophrenia 9.8
18 niemann-pick disease, type c1 9.8
19 muscular dystrophy, duchenne type 9.8
20 niemann-pick disease 9.8
21 thalassemia 9.8
22 glioma 9.8
23 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.7
24 ichthyosis lamellar 1 9.7
25 autoimmune disease 9.7
26 ataxia-telangiectasia 9.7
27 miyoshi muscular dystrophy 1 9.7
28 cervical cancer 9.7
29 autoimmune disease 1 9.7
30 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
31 congenital disorder of glycosylation, type in 9.7
32 arthritis 9.7
33 chronic granulomatous disease 9.7
34 hepatitis 9.7
35 liver disease 9.7
36 lymphoma 9.7
37 esophagitis 9.7
38 squamous cell carcinoma 9.7
39 vascular disease 9.7
40 corneal dystrophy 9.7
41 cervicitis 9.7
42 myopathy 9.7
43 pneumonia 9.7
44 type i 9.7
45 hemophilia 9.7
46 chronic pain 9.7
47 hypoxia 9.7
48 breast cancer 9.5
49 multiple sclerosis 9.5
50 fibrodysplasia ossificans progressiva 9.5

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



Diseases related to Ichthyosis Prematurity Syndrome

Symptoms & Phenotypes for Ichthyosis Prematurity Syndrome

Clinical features from OMIM:

608649

Human phenotypes related to Ichthyosis Prematurity Syndrome:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
3 eosinophilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001880
4 neonatal respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002643
5 desquamation of skin soon after birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0007549

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:

41
Skin, Testes

Publications for Ichthyosis Prematurity Syndrome

Articles related to Ichthyosis Prematurity Syndrome:

(show all 17)
# Title Authors Year
1
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient. ( 29701233 )
2018
2
Ichthyosis Prematurity Syndrome: From Fetus to Adulthood. ( 27224495 )
2016
3
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India. ( 26783444 )
2016
4
Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome. ( 27168232 )
2016
5
Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. ( 26341232 )
2015
6
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome. ( 27081519 )
2015
7
Ichthyosis prematurity syndrome: a case report and review of known mutations. ( 24889544 )
2014
8
Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome. ( 23271751 )
2013
9
Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome. ( 21465607 )
2012
10
Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia. ( 22927265 )
2012
11
Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. ( 21856041 )
2012
12
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome. ( 21450060 )
2011
13
Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant. ( 21690550 )
2011
14
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. ( 19631310 )
2009
15
Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. ( 19119129 )
2008
16
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association. ( 16946994 )
2006
17
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. ( 14985385 )
2004

Variations for Ichthyosis Prematurity Syndrome

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

75
# 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

ClinVar genetic disease variations for Ichthyosis Prematurity Syndrome:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC27A4 NM_005094.3(SLC27A4): c.504C> A (p.Cys168Ter) single nucleotide variant Pathogenic rs137853131 GRCh37 Chromosome 9, 131107776: 131107776
2 SLC27A4 NM_005094.3(SLC27A4): c.504C> A (p.Cys168Ter) single nucleotide variant Pathogenic rs137853131 GRCh38 Chromosome 9, 128345497: 128345497
3 SLC27A4 SLC27A4, IVS4AS, G-A, -1 single nucleotide variant Pathogenic
4 SLC27A4 NM_005094.3(SLC27A4): c.274G> A (p.Ala92Thr) single nucleotide variant Pathogenic rs137853132 GRCh37 Chromosome 9, 131107546: 131107546
5 SLC27A4 NM_005094.3(SLC27A4): c.274G> A (p.Ala92Thr) single nucleotide variant Pathogenic rs137853132 GRCh38 Chromosome 9, 128345267: 128345267
6 SLC27A4 NM_005094.3(SLC27A4): c.739T> C (p.Ser247Pro) single nucleotide variant Pathogenic rs137853133 GRCh37 Chromosome 9, 131112614: 131112614
7 SLC27A4 NM_005094.3(SLC27A4): c.739T> C (p.Ser247Pro) single nucleotide variant Pathogenic rs137853133 GRCh38 Chromosome 9, 128350335: 128350335
8 SLC27A4 NM_005094.3(SLC27A4): c.899A> G (p.Gln300Arg) single nucleotide variant Pathogenic rs137853134 GRCh37 Chromosome 9, 131114938: 131114938
9 SLC27A4 NM_005094.3(SLC27A4): c.899A> G (p.Gln300Arg) single nucleotide variant Pathogenic rs137853134 GRCh38 Chromosome 9, 128352659: 128352659
10 SLC27A4 SLC27A4, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
11 SLC27A4 NM_005094.3(SLC27A4): c.1748G> A (p.Arg583His) single nucleotide variant Pathogenic rs137853135 GRCh37 Chromosome 9, 131118049: 131118049
12 SLC27A4 NM_005094.3(SLC27A4): c.1748G> A (p.Arg583His) single nucleotide variant Pathogenic rs137853135 GRCh38 Chromosome 9, 128355770: 128355770

Expression for Ichthyosis Prematurity Syndrome

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

Pathways for Ichthyosis Prematurity Syndrome

Pathways related to Ichthyosis Prematurity Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 SLC27A1 SLC27A4
3 10.48 SLC27A1 SLC27A4

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 SLC27A1 SLC27A4
2 metabolic process GO:0008152 9.43 SLC27A1 SLC27A4
3 fatty acid metabolic process GO:0006631 9.4 SLC27A1 SLC27A4
4 lipid transport GO:0006869 9.37 SLC27A1 SLC27A4
5 long-chain fatty acid metabolic process GO:0001676 9.32 SLC27A1 SLC27A4
6 fatty acid transport GO:0015908 9.26 SLC27A1 SLC27A4
7 long-chain fatty acid transport GO:0015909 9.16 SLC27A1 SLC27A4
8 long-chain fatty acid import GO:0044539 8.96 SLC27A1 SLC27A4
9 medium-chain fatty acid transport GO:0001579 8.62 SLC27A1 SLC27A4

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.37 SLC27A1 SLC27A4
2 catalytic activity GO:0003824 9.32 SLC27A1 SLC27A4
3 ligase activity GO:0016874 9.26 SLC27A1 SLC27A4
4 long-chain fatty acid-CoA ligase activity GO:0004467 9.16 SLC27A1 SLC27A4
5 very long-chain fatty acid-CoA ligase activity GO:0031957 8.96 SLC27A1 SLC27A4
6 fatty acid transmembrane transporter activity GO:0015245 8.62 SLC27A1 SLC27A4

Sources for Ichthyosis Prematurity Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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