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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAniridia (D015783)
Parent Node:
expandIchthyosis (D007057)
Parent Node:
expandInfant, Premature, Diseases (D007235)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandIchthyosis prematurity syndrome (C536271)

       Child Nodes:



 Sister Nodes: 
..expandApraxias (D001072) Child10
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHypomyelination, Global Cerebral (C567847)
..expandIchthyosis prematurity syndrome (C536271)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMegarbane syndrome (C536145)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5689
Name:Ichthyosis prematurity syndrome
Definition:
Alternative IDs:OMIM:608649
ParentIDs:MESH:D007057|MESH:D007235|MESH:D011596|MESH:D015783
TreeNumbers:C10.597.606.881/C536271 |C11.250.060/C536271 |C11.270.060/C536271 |C11.941.375.060/C536271 |C16.131.384.079/C536271 |C16.131.831.512/C536271 |C16.320.290.078/C536271 |C16.614.492/C536271 |C16.614.521/C536271 |C17.800.428.333/C536271 |C17.800.804.512/C536271 |C23.88
Synonyms:Aniridia partial with unilateral renal agenesis and psychomotor retardation |Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation |Aniridia renal agenesis psychomotor retardation |Ichthyosis congenita IV |IPS
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C536271
MeSH: C536271
OMIM: 608649;

Genes: SLC27A4;
Phenotypes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_005094.3(SLC27A4):c.274G>A (p.Ala92Thr)10999SLC27A4Pathogenic137853132RCV000006100; NMedGen:C1837610,OMIM:608649,ORPHA:886219131107546131107546NM_005094.3:c.274G>ANP_005085.2:p.Ala92ThrNC_000009.11:g.131107546G>AOMIM Allelic Variant:604194.0003C1837610 608649 Ichthyosis prematurity syndrome
NM_005094.3(SLC27A4):c.504C>A (p.Cys168Ter)10999SLC27A4Pathogenic137853131RCV000006098; NMedGen:C1837610,OMIM:608649,ORPHA:886219131107776131107776NM_005094.3:c.504C>ANP_005085.2:p.Cys168TerNC_000009.11:g.131107776C>AOMIM Allelic Variant:604194.0001C1837610 608649 Ichthyosis prematurity syndrome
NM_005094.3(SLC27A4):c.739T>C (p.Ser247Pro)10999SLC27A4Pathogenic137853133RCV000006101; NMedGen:C1837610,OMIM:608649,ORPHA:886219131112614131112614NM_005094.3:c.739T>CNP_005085.2:p.Ser247ProNC_000009.11:g.131112614T>COMIM Allelic Variant:604194.0004C1837610 608649 Ichthyosis prematurity syndrome
NM_005094.3(SLC27A4):c.899A>G (p.Gln300Arg)10999SLC27A4Pathogenic137853134RCV000006102; NMedGen:C1837610,OMIM:608649,ORPHA:886219131114938131114938NM_005094.3:c.899A>GNP_005085.2:p.Gln300ArgNC_000009.11:g.131114938A>GOMIM Allelic Variant:604194.0005C1837610 608649 Ichthyosis prematurity syndrome
NM_005094.3(SLC27A4):c.1748G>A (p.Arg583His)10999SLC27A4Pathogenic137853135RCV000006104; NMedGen:C1837610,OMIM:608649,ORPHA:886219131118049131118049NM_005094.3:c.1748G>ANP_005085.2:p.Arg583HisNC_000009.11:g.131118049G>AOMIM Allelic Variant:604194.0007C1837610 608649 Ichthyosis prematurity syndrome