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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ichthyosis, Lamellar (D017490)
..Starting node ..Ichthyosis, Lamellar, 5 (C564699)
Child Nodes:
Sister Nodes:
..Harlequin type ichthyosis (C538424)
..Ichthyosiform erythroderma, Brocq congenital, nonbullous form (C538603)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Ichthyosis, Lamellar, 5 (C564699)
..Lamellar ichthyosis, autosomal dominant form (C537263)
..Lamellar ichthyosis, type 2 (C537264)
..Lamellar ichthyosis, type 3 (C537265)
..Self-Healing Collodion Baby (C565473)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5684

Name:

Ichthyosis, Lamellar, 5

Definition:

Alternative IDs:

OMIM:606545

ParentIDs:

MESH:D017490

TreeNumbers:

C16.131.831.512.400.410/C564699 |C16.320.850.400.410/C564699 |C16.614.492.400.410/C564699 |C17.800.428.333.250.410/C564699 |C17.800.804.512.400.410/C564699 |C17.800.827.400.410/C564699

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C564699
MeSH: C564699
OMIM: 606545;

Genes: ALOXE3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
3	HP:0012472	Eclabion	HP:0040283
4	HP:0000656	Ectropion	HP:0040283
5	HP:0010783	Erythema	HP:0040283
6	HP:0000966	Hypohidrosis
7	HP:0000982	Palmoplantar keratoderma	HP:0040283

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_001165960.1(ALOXE3):c.1894G>T (p.Val632Phe)	59344	ALOXE3	Pathogenic	121434232	RCV000003576;	N	Gene:140560,MedGen:C1847849,OMIM:606545	17	8012556	8012556	NM_001165960.1:c.1894G>T	NP_001159432.1:p.Val632Phe	NC_000017.10:g.8012556C>A	OMIM Allelic Variant:607206.0001	C1847849 606545 Autosomal recessive congenital ichthyosis 3
NM_001165960.1(ALOXE3):c.1582C>A (p.Arg528Ser)	59344	ALOXE3	Pathogenic	121434234	RCV000003578;	N	Gene:140560,MedGen:C1847849,OMIM:606545	17	8013529	8013529	NM_001165960.1:c.1582C>A	NP_001159432.1:p.Arg528Ser	NC_000017.10:g.8013529G>T	OMIM Allelic Variant:607206.0003	C1847849 606545 Autosomal recessive congenital ichthyosis 3
NM_001165960.1(ALOXE3):c.1238G>T (p.Gly413Val)	59344	ALOXE3	Pathogenic	786205120	RCV000032746;	N	Gene:140560,MedGen:C1847849,OMIM:606545	17	8014792	8014792	NM_001165960.1:c.1238G>T	NP_001159432.1:p.Gly413Val	NC_000017.10:g.8014792C>A	OMIM Allelic Variant:607206.0005	C1847849 606545 Autosomal recessive congenital ichthyosis 3
NM_001165960.1(ALOXE3):c.1105T>A (p.Leu369Met)	59344	ALOXE3	Uncertain significance	121434235	RCV000003579;	N	Gene:140560,MedGen:C1847849,OMIM:606545	17	8015486	8015486	NM_001165960.1:c.1105T>A	NP_001159432.1:p.Leu369Met	NC_000017.10:g.8015486A>T	OMIM Allelic Variant:607206.0004	C1847849 606545 Autosomal recessive congenital ichthyosis 3
NM_001165960.1(ALOXE3):c.1096C>T (p.Arg366Ter)	59344	ALOXE3	Pathogenic	121434233	RCV000003577;	N	Gene:140560,MedGen:C1847849,OMIM:606545	17	8015495	8015495	NM_001165960.1:c.1096C>T	NP_001159432.1:p.Arg366Ter	NC_000017.10:g.8015495G>A	OMIM Allelic Variant:607206.0002	C1847849 606545 Autosomal recessive congenital ichthyosis 3
NM_021628.2(ALOXE3):c.418C>T (p.Arg140Ter)	59344	ALOXE3	Pathogenic	370031870	RCV000201260;	N	Gene:140560,MedGen:C1847849,OMIM:606545	17	8018941	8018941	NM_021628.2:c.418C>T	NP_067641.2:p.Arg140Ter	NC_000017.10:g.8018941G>A	-	C1847849 606545 Autosomal recessive congenital ichthyosis 3