Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Switch to table view
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 2 (C537264)
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:

6187

Name:

Lamellar ichthyosis, type 2

Definition:

Alternative IDs:

OMIM:601277

ParentIDs:

MESH:D017490

TreeNumbers:

C16.131.831.512.400.410/C537264 |C16.320.850.400.410/C537264 |C16.614.492.400.410/C537264 |C17.800.428.333.250.410/C537264 |C17.800.804.512.400.410/C537264 |C17.800.827.400.410/C537264

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C537264
MeSH: C537264
OMIM: 601277;

Genes: ABCA12;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001438	Abnormal abdomen morphology
3	HP:0000707	Abnormality of the nervous system
4	HP:0001217	Clubbing	HP:0040283
5	HP:0007431	Congenital ichthyosiform erythroderma
6	HP:0000656	Ectropion
7	HP:0001820	Leukonychia	HP:0040283
8	HP:0000982	Palmoplantar keratoderma

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_173076.2(ABCA12):c.4951G>A (p.Gly1651Ser)	26154	ABCA12	Pathogenic	28940568	RCV000002990;	N	MedGen:C1832550,OMIM:601277	2	215843554	215843554	NM_173076.2:c.4951G>A	NP_775099.2:p.Gly1651Ser	NC_000002.11:g.215843554C>T	OMIM Allelic Variant:607800.0003	C1832550 601277 Autosomal recessive congenital ichthyosis 4A
NM_173076.2(ABCA12):c.4615G>A (p.Glu1539Lys)	26154	ABCA12	Pathogenic	28940271	RCV000002992;	N	MedGen:C1832550,OMIM:601277	2	215845332	215845332	NM_173076.2:c.4615G>A	NP_775099.2:p.Glu1539Lys	NC_000002.11:g.215845332C>T	OMIM Allelic Variant:607800.0005	C1832550 601277 Autosomal recessive congenital ichthyosis 4A
NM_173076.2(ABCA12):c.4541G>A (p.Arg1514His)	26154	ABCA12	Pathogenic	28940270	RCV000002991;	N	MedGen:C1832550,OMIM:601277	2	215846949	215846949	NM_173076.2:c.4541G>A	NP_775099.2:p.Arg1514His	NC_000002.11:g.215846949C>T	OMIM Allelic Variant:607800.0004	C1832550 601277 Autosomal recessive congenital ichthyosis 4A
NM_173076.2(ABCA12):c.4142G>A (p.Gly1381Glu)	26154	ABCA12	Pathogenic	28940268	RCV000002988;	N	MedGen:C1832550,OMIM:601277	2	215851287	215851287	NM_173076.2:c.4142G>A	NP_775099.2:p.Gly1381Glu	NC_000002.11:g.215851287C>T	OMIM Allelic Variant:607800.0001	C1832550 601277 Autosomal recessive congenital ichthyosis 4A
NM_173076.2(ABCA12):c.4139A>G (p.Asn1380Ser)	26154	ABCA12	Pathogenic	28940269	RCV000002989;	N	MedGen:C1832550,OMIM:601277	2	215851290	215851290	NM_173076.2:c.4139A>G	NP_775099.2:p.Asn1380Ser	NC_000002.11:g.215851290T>C	OMIM Allelic Variant:607800.0002	C1832550 601277 Autosomal recessive congenital ichthyosis 4A