IPS
MCID: ICH020
MIFTS: 45

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 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, bone and myeloid, 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 179)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ip 12.3
2 incontinentia pigmenti 12.3
3 lymphoma, hodgkin, classic 11.4
4 ichthyosis 10.5
5 alzheimer disease 10.1
6 tropical calcific pancreatitis 10.1
7 spinal cord injury 10.1
8 muscular dystrophy 10.0
9 prostate cancer 10.0
10 schizophrenia 10.0
11 retinitis pigmentosa 10.0
12 long qt syndrome 10.0
13 hypoxia 10.0
14 popliteal pterygium syndrome 9.9
15 neuroblastoma 9.9
16 muscular dystrophy, duchenne type 9.9
17 aging 9.9
18 myoclonus, familial cortical 9.9
19 leukemia 9.9
20 myotonic dystrophy 9.9
21 bowenoid papulosis 9.9
22 myotonia atrophica 9.9
23 autoimmune disease 9.9
24 myotonic dystrophy 1 9.9
25 ovarian cancer 9.9
26 pulmonary hypertension, primary, 1 9.9
27 leber congenital amaurosis 4 9.9
28 hepatitis 9.9
29 liver disease 9.9
30 niemann-pick disease 9.9
31 thalassemia 9.9
32 lymphoma 9.9
33 vascular disease 9.9
34 hepatitis c 9.9
35 retinitis 9.9
36 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9
37 ichthyosis lamellar 1 9.9
38 amyotrophic lateral sclerosis 1 9.8
39 hepatocellular carcinoma 9.8
40 multiple sclerosis 9.8
41 esterase c 9.8
42 huntington disease 9.8
43 ataxia-telangiectasia 9.8
44 moyamoya disease 1 9.8
45 miyoshi muscular dystrophy 1 9.8
46 myelofibrosis 9.8
47 macular degeneration, age-related, 1 9.8
48 cervical cancer 9.8
49 autoimmune disease 1 9.8
50 myocardial infarction 9.8

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, Bone, Myeloid, Liver, Spinal Cord, Endothelial, T Cells

Publications for Ichthyosis Prematurity Syndrome

Articles related to Ichthyosis Prematurity Syndrome:

(show top 50) (show all 839)
# Title Authors Year
1
The world's first clinical trial for an aplastic anemia patient with thrombocytopenia administering platelets generated from autologous iPS cells. ( 30535854 )
2018
2
iPS cell serves as a source of dendritic cells for in vitro dengue virus infection model. ( 30058991 )
2018
3
Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells. ( 30024920 )
2018
4
Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene. ( 30399566 )
2018
5
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. ( 29904107 )
2018
6
Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters. ( 30536735 )
2018
7
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient. ( 29701233 )
2018
8
Modeling hallmark pathology using motor neurons derived from the family and sporadic amyotrophic lateral sclerosis patient-specific iPS cells. ( 30442180 )
2018
9
Microphysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons. ( 30324134 )
2018
10
Characterization of a human induced Pluripotent Stem (iPS) cell line (INCABRi002-A) derived from a primary myelofibrosis patient harboring the 5-bp insertion in CALR and the p.W146X mutation in TP53. ( 30343103 )
2018
11
Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors. ( 30503201 )
2018
12
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation. ( 30471616 )
2018
13
Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa. ( 29660607 )
2018
14
Generation of integration-free iPS cell lines from three sickle cell disease patients from the state of Bahia, Brazil. ( 30296668 )
2018
15
Quality of Life Outcomes for Veterans With Spinal Cord Injury Receiving Individual Placement and Support (IPS). ( 30459495 )
2018
16
Generation of a Urine-Derived Ips Cell Line from a Patient with a Ventricular Septal Defect and Heart Failure and the Robust Differentiation of These Cells to Cardiomyocytes via Small Molecules. ( 30308486 )
2018
17
Circulating miRNome profiling in Moyamoya disease-discordant monozygotic twins and endothelial microRNA expression analysis using iPS cell line. ( 30157848 )
2018
18
Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75year old female. ( 29268155 )
2018
19
A Human IPS Model Implicates Embryonic B-Myeloid Fate Restriction as Developmental Susceptibility to B Acute Lymphoblastic Leukemia-Associated ETV6-RUNX1. ( 29290585 )
2018
20
Predominant role of IPS-1 over TRIF adaptor proteins in early innate immune response against Zika virus in mice. ( 29297844 )
2018
21
Validation of the Spanish version of the Irrational Procrastination Scale (IPS). ( 29304119 )
2018
22
Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene. ( 29327201 )
2018
23
The Use of Standardized Discharge in IPS Supported Employment Programs. ( 29334878 )
2018
24
Nanaomycin A Treatment Promotes Hepatoblast Differentiation from Human iPS Cells. ( 29378471 )
2018
25
Cloning and expansion of antigen-specific T cells using iPS cell technology: development of "off-the-shelf" T cells for the use in allogeneic transfusion settings. ( 29388165 )
2018
26
Aurora-A overexpression is linked to development of aggressive teratomas derived from human iPS cells. ( 29393405 )
2018
27
Pharmacological manipulation of GABA activity in nucleus subpretectalis/interstitio-pretecto-subpretectalis (SP/IPS) impairs figure-ground discrimination in pigeons: Running head: SP/IPS in figure-ground segregation. ( 29408282 )
2018
28
Impact of calcium-sensitive dyes on the beating properties and pharmacological responses of human iPS-derived cardiomyocytes using the calcium transient assay. ( 29421525 )
2018
29
Enrichment of high-functioning human iPS cell-derived hepatocyte-like cells for pharmaceutical research. ( 29421559 )
2018
30
Mechanism and Method for Generating Tumor-Free iPS Cells Using Intronic MicroRNA miR-302 Induction. ( 29435940 )
2018
31
Human iPS-Derived Astroglia from a Stable Neural Precursor State Show Improved Functionality Compared with Conventional Astrocytic Models. ( 29456185 )
2018
32
Rig-I is involved in inflammation through the IPS-1/TRAF6 pathway in astrocytes under chemical hypoxia. ( 29474875 )
2018
33
Translucency of IPS e.max and cubic zirconia monolithic crowns. ( 29475752 )
2018
34
Freezing Responses in DMSO-Based Cryopreservation of Human iPS Cells: Aggregates Versus Single Cells. ( 29478388 )
2018
35
The economic case for well-considered investment in health-related employment support: Costs and savings of alternative modified Individual and Placement Support (IPS) models. ( 29545015 )
2018
36
Concerns on a new therapy for severe heart failure using cell sheets with skeletal muscle or myocardial cells from iPS cells in Japan. ( 29581888 )
2018
37
Temporal Dynamics of Gene Expression During Endothelial Cell Differentiation From Human iPS Cells: A Comparison Study of Signalling Factors and Small Molecules. ( 29594149 )
2018
38
Self-organization of human iPS cells into trophectoderm mimicking cysts induced by adhesion restriction using microstructured mesh scaffolds. ( 29607487 )
2018
39
Nobiletin Reduces Intracellular and Extracellular β-Amyloid in iPS Cell-Derived Alzheimer's Disease Model Neurons. ( 29607920 )
2018
40
Progerin phosphorylation in interphase is lower and less mechanosensitive than lamin-A,C in iPS-derived mesenchymal stem cells. ( 29619860 )
2018
41
Brown-Like Adipocyte Progenitors Derived from Human iPS Cells: A New Tool for Anti-obesity Drug Discovery and Cell-Based Therapy? ( 29633179 )
2018
42
Effects of hypoxia inducible factors on pluripotency in human iPS cells. ( 29633433 )
2018
43
The science and application of IPS e.Max dental ceramic. ( 29655413 )
2018
44
The effect of different geometric shapes and angles on the fracture strength of IPS e.max computer-aided designed ceramic onlays: An in vitro study. ( 29674827 )
2018
45
Validation of iPS Cell-Derived RPE Tissue in Animal Models. ( 29721997 )
2018
46
Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration. ( 29730570 )
2018
47
Blood-derived integration-free iPS cell line UKBi011-A from a diagnosed male Alzheimer's disease patient with APOE ɛ4/ɛ4 genotype. ( 29753274 )
2018
48
Transactivation domain of p53 regulates DNA repair and integrity in human iPS cells. ( 29775409 )
2018
49
Long-term Culture of Human iPS Cell-derived Telencephalic Neuron Aggregates on Collagen Gel. ( 29780042 )
2018
50
Retraction: Matrix Metalloproteinase-3 in Odontoblastic Cells Derived from Ips Cells: Unique Proliferation Response as Odontoblastic Cells Derived from ES Cells. ( 29856845 )
2018

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 10.49 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 9.43 SLC27A1 SLC27A4
2 fatty acid metabolic process GO:0006631 9.4 SLC27A1 SLC27A4
3 lipid transport GO:0006869 9.37 SLC27A1 SLC27A4
4 long-chain fatty acid metabolic process GO:0001676 9.32 SLC27A1 SLC27A4
5 fatty acid transport GO:0015908 9.26 SLC27A1 SLC27A4
6 long-chain fatty acid transport GO:0015909 9.16 SLC27A1 SLC27A4
7 long-chain fatty acid import GO:0044539 8.96 SLC27A1 SLC27A4
8 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 9.4 SLC27A1 SLC27A4
2 catalytic activity GO:0003824 9.37 SLC27A1 SLC27A4
3 ligase activity GO:0016874 9.32 SLC27A1 SLC27A4
4 long-chain fatty acid-CoA ligase activity GO:0004467 9.26 SLC27A1 SLC27A4
5 long-chain fatty acid transporter activity GO:0005324 9.16 SLC27A1 SLC27A4
6 very long-chain fatty acid-CoA ligase activity GO:0031957 8.96 SLC27A1 SLC27A4
7 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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