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: Pigmentation Disorders (D010859)
..Starting node ..Dyschromatosis symmetrica hereditaria 1 (C535729)
Child Nodes:
Sister Nodes:
..Acroleukopathy, Symmetric (C566322)
..Anonychia with Flexural Pigmentation (C566278)
..Argyria (D001129)
..BADS Syndrome (C562663)
..Basaran Yilmaz syndrome (C537660)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cafe-au-Lait Spots (D019080) 4
..Dyschromatosis symmetrica hereditaria 1 (C535729)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Elejalde Disease (C536203)
..FLOTCH syndrome (C537065)
..Graying of Hair, Precocious (C564209)
..Griscelli syndrome type 1 (C537301)
..Griscelli syndrome type 3 (C537303)
..Grouped Pigmentation of the Macula (C565530)
..Heterochromia iridis (C538115)
..Hyperpigmentation (D017495) 30
..Hypopigmentation (D017496) 49
..Incontinentia Pigmenti (D007184) 2
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Macules hereditary congenital hypopigmented and hyperpigmented (C537836)
..Oculocerebral hypopigmentation syndrome type Preus (C537866)
..Peeling skin syndrome, acral type (C536316)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Pigmented purpuric eruption (C537186)
..Propping Zerres syndrome (C538052)
..Red skin pigment anomaly of New Guinea (C535515)
..Russell-Silver Syndrome, X-Linked (C562446)
..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..Spastic paraplegia 23 (C536859)
..Tang Hsi Ryu syndrome (C536897)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thumb deformity, alopecia, pigmentation anomaly (C536904)
..Urticaria Pigmentosa (D014582)
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..White forelock with malformations (C536700)
..Whyte Murphy syndrome (C536054)
..Xeroderma Pigmentosum (D014983) 16
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3507

Name:

Dyschromatosis symmetrica hereditaria 1

Definition:

Alternative IDs:

OMIM:127400

ParentIDs:

MESH:D010859

TreeNumbers:

C17.800.621/C535729

Synonyms:

Slim Mappings:

Skin disease

Reference:

MedGen: C535729
MeSH: C535729
OMIM: 127400;

Genes: ADAR;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0007441	Hyperpigmented/hypopigmented macules

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_001025107.2(ADAR):c.2609T>C (p.Phe870Ser)	103	ADAR	Pathogenic	28936681	RCV000015943;	N	MedGen:C0406775,OMIM:127400,ORPHA:41,SNOMED CT:239085000	1	154557469	154557469	NM_001025107.2:c.2609T>C	NP_001020278.1:p.Phe870Ser	NC_000001.10:g.154557469A>G	OMIM Allelic Variant:146920.0004	C0406775 127400 Symmetrical dyschromatosis of extremities
NM_001111.4(ADAR):c.3019G>A (p.Gly1007Arg)	103	ADAR	Likely pathogenic;Pathogenic	398122822	RCV000032653; RCV000032654;	N	MedGen:C0406775,OMIM:127400,ORPHA:41,SNOMED CT:239085000; MedGen:C3539013,OMIM:615010	1	154560601	154560601	NM_001111.4:c.3019G>A	NP_001102.2:p.Gly1007Arg	NC_000001.10:g.154560601C>T	OMIM Allelic Variant:146920.0011	C3539013 615010 Aicardi-goutieres syndrome 6; C0406775 127400 Symmetrical dyschromatosis of extremities
NM_001025107.2(ADAR):c.1969A>T (p.Lys657Ter)	103	ADAR	Pathogenic	121912422	RCV000015942;	N	MedGen:C0406775,OMIM:127400,ORPHA:41,SNOMED CT:239085000	1	154561058	154561058	NM_001025107.2:c.1969A>T	NP_001020278.1:p.Lys657Ter	NC_000001.10:g.154561058T>A	OMIM Allelic Variant:146920.0003	C0406775 127400 Symmetrical dyschromatosis of extremities
NM_001025107.2(ADAR):c.1883T>C (p.Leu628Pro)	103	ADAR	Pathogenic	28936680	RCV000015941;	N	MedGen:C0406775,OMIM:127400,ORPHA:41,SNOMED CT:239085000	1	154561144	154561144	NM_001025107.2:c.1883T>C	NP_001020278.1:p.Leu628Pro	NC_000001.10:g.154561144A>G	OMIM Allelic Variant:146920.0002	C0406775 127400 Symmetrical dyschromatosis of extremities
NM_001025107.2(ADAR):c.1192C>T (p.Gln398Ter)	103	ADAR	Pathogenic	121912423	RCV000015944;	N	MedGen:C0406775,OMIM:127400,ORPHA:41,SNOMED CT:239085000	1	154569601	154569601	NM_001025107.2:c.1192C>T	NP_001020278.1:p.Gln398Ter	NC_000001.10:g.154569601G>A	OMIM Allelic Variant:146920.0005	C0406775 127400 Symmetrical dyschromatosis of extremities
NM_001025107.2(ADAR):c.535C>T (p.Arg179Ter)	103	ADAR	Pathogenic	121912421	RCV000015940;	N	MedGen:C0406775,OMIM:127400,ORPHA:41,SNOMED CT:239085000	1	154573698	154573698	NM_001025107.2:c.535C>T	NP_001020278.1:p.Arg179Ter	NC_000001.10:g.154573698G>A	OMIM Allelic Variant:146920.0001	C0406775 127400 Symmetrical dyschromatosis of extremities
NM_001025107.2(ADAR):c.56_57delCT (p.Ser19Cysfs)	103	ADAR	Pathogenic	387906541	RCV000015945;	N	MedGen:C0406775,OMIM:127400,ORPHA:41,SNOMED CT:239085000	1	154574176	154574177	NM_001025107.2:c.56_57delCT	NP_001020278.1:p.Ser19Cysfs	NC_000001.10:g.154574176_154574177delAG	OMIM Allelic Variant:146920.0006	C0406775 127400 Symmetrical dyschromatosis of extremities