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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

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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 ..Lamellar ichthyosis, type 3 (C537265)
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:

6188

Name:

Lamellar ichthyosis, type 3

Definition:

Alternative IDs:

OMIM:604777

ParentIDs:

MESH:D017490

TreeNumbers:

C16.131.831.512.400.410/C537265 |C16.320.850.400.410/C537265 |C16.614.492.400.410/C537265 |C17.800.428.333.250.410/C537265 |C17.800.804.512.400.410/C537265 |C17.800.827.400.410/C537265

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C537265
MeSH: C537265
OMIM: 604777;

Genes: CYP4F22;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001927	Acanthocytosis
3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
4	HP:0025092	Epidermal acanthosis
5	HP:0001019	Erythroderma	HP:0040283
6	HP:0040162	Orthokeratosis	HP:0040283
7	HP:0000982	Palmoplantar keratoderma	HP:0040283
8	HP:0001036	Parakeratosis

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_173483.3(CYP4F22):c.728G>A (p.Arg243His)	126410	CYP4F22	Pathogenic	118203937	RCV000000959;	N	Gene:50992,MedGen:C1858142,OMIM:604777,OMIM:604781	19	15651317	15651317	NM_173483.3:c.728G>A	NP_775754.2:p.Arg243His	NC_000019.9:g.15651317G>A	OMIM Allelic Variant:611495.0003	C1858142 604781 Autosomal recessive congenital ichthyosis 5; C1858142 604777 Autosomal recessive congenital ichthyosis 5
NM_173483.3(CYP4F22):c.1303C>T (p.His435Tyr)	126410	CYP4F22	Pathogenic	118203935	RCV000000957;	N	Gene:50992,MedGen:C1858142,OMIM:604777,OMIM:604781	19	15659981	15659981	NM_173483.3:c.1303C>T	NP_775754.2:p.His435Tyr	NC_000019.9:g.15659981C>T	OMIM Allelic Variant:611495.0001	C1858142 604777 Autosomal recessive congenital ichthyosis 5; C1858142 604781 Autosomal recessive congenital ichthyosis 5
NM_173483.3(CYP4F22):c.1306C>G (p.His436Asp)	126410	CYP4F22	Pathogenic	118203936	RCV000000958;	N	Gene:50992,MedGen:C1858142,OMIM:604777,OMIM:604781	19	15659984	15659984	NM_173483.3:c.1306C>G	NP_775754.2:p.His436Asp	NC_000019.9:g.15659984C>G	OMIM Allelic Variant:611495.0002	C1858142 604781 Autosomal recessive congenital ichthyosis 5; C1858142 604777 Autosomal recessive congenital ichthyosis 5