MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:6207
Name:Ichthyosis, X-Linked
Definition:Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
Alternative IDs:DO:DOID:1700|OMIM:308100
ParentIDs:MESH:D007057|MESH:D012873|MESH:D040181|MESH:D043202
TreeNumbers:C16.131.831.512.420 |C16.320.322.241 |C16.320.565.925.400 |C16.320.850.408 |C16.614.492.420 |C17.800.428.333.420 |C17.800.804.512.420 |C17.800.827.408 |C18.452.648.925.400
Synonyms:Deficiencies, Steroid Sulfatase |Deficiency, Steroid Sulfatase |Ichthyoses, Sex-Linked |Ichthyoses, X-Linked |Ichthyosis, Sex Linked |Ichthyosis, Sex-Linked |Ichthyosis, X Linked |Placental Steroid Sulfatase Deficiency |Steroid Sulfatase Deficiencies |Steroid Sul
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease
Reference: MedGen: D016114
MeSH: D016114
OMIM: 308100;
MSeqDR LSDB:  
Genes: STS;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0007431Congenital ichthyosiform erythroderma
4 HP:0000028Cryptorchidism
5 HP:0008064Ichthyosis
6 HP:0002664Neoplasm
7 HP:0007759Opacification of the corneal stroma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)-1PNPLA4;PUDP;STS;VCXPathogenic-1RCV000767690; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X64970858135053-
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)-1PNPLA4;PUDP;STS;VCXPathogenic-1RCV000767691; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X64970857910475-C0020757 Ichthyosis;
GRCh37/hg19 Xp22.31(chrX:6954111-8058641)-1PNPLA4;PUDP;STS;VCXPathogenic-1RCV002280615; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X69541118058641-1-
GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1-1PNPLA4;PUDP;STS;VCX;VCX2not provided-1RCV001825213; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X64551498143242-1-
GRCh37/hg19 Xp22.31(chrX:6968337-8434424)-1PNPLA4;PUDP;STS;VCX;VCX2;VCX3BPathogenic-1RCV003236731; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X69683378434424-
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)-1PUDP;STSPathogenic-1RCV000767650; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X66961687396902-
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0412STSPathogenic-1RCV001731232; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X64517998141017-
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0412STSPathogenic-1RCV001731231; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X65320728177514-1-
NM_001320752.2(STS):c.241C>T (p.Arg81Trp)412STSUncertain significance1259321805RCV002243547; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X717538671753867175386-
NM_001320752.2(STS):c.259+8_259+10del412STSBenign/Likely benign773065157RCV000514506|RCV002496985; NMedGen:CN517202|MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X71754097175411X:g.7175409_7175411delClinGen:CA10341934CN517202 not provided;
NM_001320752.2(STS):c.272G>A (p.Trp91Ter)412STSPathogenic1463414987RCV000853199; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X71755197175519X:g.7175519G>A-
NM_001320752.2(STS):c.383-16C>T412STSBenign/Likely benign56055086RCV002218624|RCV002498241; NMedGen:C3661900|MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X717737471773747177374-
NM_001320752.2(STS):c.437del (p.Pro146fs)412STSLikely pathogenic2147089236RCV001783828; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X717744271774427177441-
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu)412STSPathogenic137853167RCV000011300|RCV001093287; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461|MedGen:C3661900X72231507223150X:g.7223150C>TOMIM:300747.0003,ClinGen:CA121122,UniProtKB:P08842#VAR_007240C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency;
NM_001320752.2(STS):c.1082-18T>C412STSUncertain significance1927373599RCV001197123; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72433627243362X:g.7243362T>C-
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg)412STSPathogenic137853165RCV000011298; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72433977243397X:g.7243397T>AClinGen:CA121120,UniProtKB:P08842#VAR_007241,OMIM:300747.0001C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency;
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser)412STSPathogenic137853168RCV000011301; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72433987243398X:g.7243398G>CClinGen:CA121123,UniProtKB:P08842#VAR_014020,OMIM:300747.0004C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency;
NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)412STSLikely pathogenic-1RCV002466828; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72434067243406NC_000023.10:g.7243406G>T-
NM_001320752.2(STS):c.1111A>G (p.Ile371Val)412STSUncertain significance748174656RCV000791007; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72434097243409X:g.7243409A>G-
NM_001320752.2(STS):c.1241+1G>T412STSPathogenic1601748137RCV000011303; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72435407243540X:g.7243540G>TOMIM:300747.0006C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency;
NM_001320752.2(STS):c.1316A>G (p.His439Arg)412STSPathogenic137853169RCV000011302; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72521017252101X:g.7252101A>GClinGen:CA121124,UniProtKB:P08842#VAR_014022,OMIM:300747.0005C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency;
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr)412STSPathogenic137853166RCV000011299; NMONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461X72521077252107X:g.7252107G>AClinGen:CA121121,UniProtKB:P08842#VAR_007242,OMIM:300747.0002C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency;
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