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: Nevus, Pigmented (D009508)
Parent Node: Skin Neoplasms (D012878)
..Starting node ..Giant pigmented hairy nevus (C536819)
Child Nodes:
Sister Nodes:
..Abdominal chemodectomas with cutaneous angiolipomas (C535552)
..Acanthoma (D049309)
..Bazex-Dupre-Christol syndrome (C537663)
..Becker Nevus Syndrome (C565735)
..Blue rubber bleb nevus syndrome (C536240)
..Calcifying Epithelial Odontogenic Tumor (C537961)
..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
..Collagenoma, Familial Cutaneous (C562925)
..Davenport Donlan syndrome (C535988)
..Dermatopathia pigmentosa reticularis (C535374)
..Familial cylindromatosis (C536611)
..Familial multiple trichodiscomas (C536847)
..Fanconi like syndrome (C536855)
..Giant pigmented hairy nevus (C536819)
..Hamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..Histiocytosis, Progressive Mucinous (C564186)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..Nevus, Epidermal (C562736)
..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..Papillomatosis, Familial Cutaneous (C566832)
..Phacomatosis pigmentokeratotica (C537893)
..Reactive angioendotheliomatosis (C535293)
..Reed's syndrome (C535516)
..Rombo syndrome (C535870)
..Schwannomatosis (C536641)
..Sclerotylosis (C537526)
..Sebaceous Gland Neoplasms (D012626) 2
..Sweat Gland Neoplasms (D013544)
..Trichoepithelioma, Multiple Familial, 2 (C567418)
..Trichoepitheliomas, Multiple Desmoplastic (C566034)
..Trichofolliculoma (C536553)
..Tufted angioma (C536924)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4595

Name:

Giant pigmented hairy nevus

Definition:

Alternative IDs:

ParentIDs:

MESH:D009508|MESH:D012878

TreeNumbers:

C04.557.665.560.615/C536819 |C04.588.805/C536819 |C17.800.882/C536819

Synonyms:

Slim Mappings:

Cancer|Skin disease

Reference:

MedGen: C536819
MeSH: C536819
OMIM: 137550;

Genes: NRAS;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0000337	Broad forehead
4	HP:0000455	Broad nasal tip
5	HP:0005600	Congenital giant melanocytic nevus
6	HP:0012056	Cutaneous melanoma
7	HP:0002002	Deep philtrum
8	HP:0000232	Everted lower lip vermilion
9	HP:0000293	Full cheeks
10	HP:0000343	Long philtrum
11	HP:0000418	Narrow nasal ridge
12	HP:0000194	Open mouth
13	HP:0000629	Periorbital fullness
14	HP:0010759	Prominence of the premaxilla
15	HP:0011220	Prominent forehead
16	HP:0000311	Round face
17	HP:0003196	Short nose

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_002524.4(NRAS):c.182A>G (p.Gln61Arg)	4893	NRAS	Pathogenic	11554290	RCV000014914; RCV000037574; RCV000032847; RCV000148032; RCV000114744; RCV000114745;	N	MedGen:C0007131,SNOMED CT:254637007; MedGen:C0206682,OMIM:188470; MedGen:C0265318,OMIM:163200,SNOMED CT:239112008; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0544862,OMIM:249400,ORPHA:2481; MedGen:C1842036,OMIM:137550	1	115256529	115256529	NM_002524.4:c.182A>G	NP_002515.1:p.Gln61Arg	NC_000001.10:g.115256529T>C	OMIM Allelic Variant:164790.0002	C0334082 162900 Epidermal nevus; C0265318 163200 Epidermal nevus syndrome; C1842036 137550 Giant pigmented hairy nevus; C1838979 252010 Mitochondrial complex I deficiency; C0544862 249400 Neurocutaneous melanosis; C0007131 Non-small cell lung cancer; C0
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys)	4893	NRAS	Pathogenic	121913254	RCV000114746; RCV000144964;	N	MedGen:C0544862,OMIM:249400,ORPHA:2481; MedGen:C1842036,OMIM:137550	1	115256530	115256530	NM_002524.4:c.181C>A	NP_002515.1:p.Gln61Lys	NC_000001.10:g.115256530G>T	OMIM Allelic Variant:164790.0008	C1842036 137550 Giant pigmented hairy nevus; C0544862 249400 Neurocutaneous melanosis
NM_002524.4(NRAS):c.37G>C (p.Gly13Arg)	4893	NRAS	Pathogenic	121434595	RCV000014913; RCV000114743;	N	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C1842036,OMIM:137550	1	115258745	115258745	NM_002524.4:c.37G>C	NP_002515.1:p.Gly13Arg	NC_000001.10:g.115258745C>G	OMIM Allelic Variant:164790.0001	C0699790 114500 Carcinoma of colon; C1842036 137550 Giant pigmented hairy nevus