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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Ichthyosis (D007057)
Parent Node: Skin Diseases, Genetic (D012873)
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..Ichthyosis, X-Linked (D016114)
Child Nodes:
........Ichthyosis and male hypogonadism (C537365)
........Ichthyosis, X-Linked, without Steroid Sulfatase Deficiency (C564729)
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..Adrenal Hyperplasia, Congenital (D000312) 12
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Bile acid synthesis defect, congenital, 1 (C535442)
..Bile acid synthesis defect, congenital, 2 (C535443)
..Bile Acid Synthesis Defect, Congenital, 3 (C566340)
..Cortisone reductase deficiency (C536447)
..Familial Glucocorticoid Deficiency 1 (C565974)
..Hypercholanemia, Familial (C564336)
..Ichthyosis, X-Linked (D016114) 2
..Lathosterolosis (C537880)
..Lyngstadaas syndrome (C537490)
..Mineralocorticoid Excess Syndrome, Apparent (D043204) 1
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Smith-Lemli-Opitz Syndrome (D019082) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5694

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:

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:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease

Reference:

MedGen: D016114
MeSH: D016114
OMIM: 308100;

Genes: STS;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0007431	Congenital ichthyosiform erythroderma
4	HP:0000028	Cryptorchidism
5	HP:0008064	Ichthyosis
6	HP:0002664	Neoplasm
7	HP:0007759	Opacification of the corneal stroma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000351.5(STS):c.1022C>T (p.Ser341Leu)	412	STS	Pathogenic	137853167	RCV000011300;	N	MedGen:C0079588,OMIM:308100,ORPHA:281210,SNOMED CT:72523005	X	7223150	7223150	NM_000351.5:c.1022C>T	NP_000342.2:p.Ser341Leu	NC_000023.10:g.7223150C>T	OMIM Allelic Variant:300747.0003	C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency
NM_000351.5(STS):c.1114T>A (p.Trp372Arg)	412	STS	Pathogenic	137853165	RCV000011298;	N	MedGen:C0079588,OMIM:308100,ORPHA:281210,SNOMED CT:72523005	X	7243397	7243397	NM_000351.5:c.1114T>A	NP_000342.2:p.Trp372Arg	NC_000023.10:g.7243397T>A	OMIM Allelic Variant:300747.0001	C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency
NM_000351.5(STS):c.1115G>C (p.Trp372Ser)	412	STS	Pathogenic	137853168	RCV000011301;	N	MedGen:C0079588,OMIM:308100,ORPHA:281210,SNOMED CT:72523005	X	7243398	7243398	NM_000351.5:c.1115G>C	NP_000342.2:p.Trp372Ser	NC_000023.10:g.7243398G>C	OMIM Allelic Variant:300747.0004	C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency
NM_000351.5(STS):c.1331A>G (p.His444Arg)	412	STS	Pathogenic	137853169	RCV000011302;	N	MedGen:C0079588,OMIM:308100,ORPHA:281210,SNOMED CT:72523005	X	7252101	7252101	NM_000351.5:c.1331A>G	NP_000342.2:p.His444Arg	NC_000023.10:g.7252101A>G	OMIM Allelic Variant:300747.0005	C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency
NM_000351.5(STS):c.1337G>A (p.Cys446Tyr)	412	STS	Pathogenic	137853166	RCV000011299;	N	MedGen:C0079588,OMIM:308100,ORPHA:281210,SNOMED CT:72523005	X	7252107	7252107	NM_000351.5:c.1337G>A	NP_000342.2:p.Cys446Tyr	NC_000023.10:g.7252107G>A	OMIM Allelic Variant:300747.0002	C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency