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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

Disease Browser
Parent Node: Hyperpigmentation (D017495)
..Starting node ..HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2 (OMIM:145250)
Child Nodes:
Sister Nodes:
..Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death (C565930)
..Dermatopathia pigmentosa reticularis (C535374)
..dowling-degos disease (C562924)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hyperpigmentation of Eyelids (C562400)
..Hyperpigmentation of Fuldauer and Kuijpers (C564164)
..Hyperpigmentation, Familial Progressive (C564163)
..HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2 (OMIM:145250)
..Melanosis (D008548) 18
..Melanosis, Universal (C563594)
..Patterson pseudoleprechaunism syndrome (C536310)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5463

Name:

HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2

Definition:

Alternative IDs:

ParentIDs:

MESH:D017495

TreeNumbers:

C17.800.621.430/145250

Synonyms:

FPH |FPH2 |HPP |MELANOSIS UNIVERSALIS HEREDITARIA |MUH

Slim Mappings:

Skin disease

Reference:

MedGen: 145250
MeSH: 145250
OMIM: 145250;

Genes: KITLG;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0000957	Cafe-au-lait spot
4	HP:0000962	Hyperkeratosis
5	HP:0001053	Hypopigmented skin patches
6	HP:0001003	Multiple lentigines
7	HP:0007505	Progressive hyperpigmentation
8	HP:0001045	Vitiligo	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_000899.4(KITLG):c.107A>G (p.Asn36Ser)	4254	KITLG	Pathogenic	121918653	RCV000013661;	N	Gene:780897,MedGen:C1840392,OMIM:145250	12	88939551	88939551	NM_000899.4:c.107A>G	NP_000890.1:p.Asn36Ser	NC_000012.11:g.88939551T>C	OMIM Allelic Variant:184745.0003	C1840392 145250 Familial progressive hyperpigmentation with or without hypopigmentation
NM_000899.4(KITLG):c.100A>C (p.Thr34Pro)	4254	KITLG	Pathogenic	730882157	RCV000162037;	N	Gene:780897,MedGen:C1840392,OMIM:145250	12	88939558	88939558	NM_000899.4:c.100A>C	NP_000890.1:p.Thr34Pro	NC_000012.11:g.88939558T>G	OMIM Allelic Variant:184745.0005	C1840392 145250 Familial progressive hyperpigmentation with or without hypopigmentation
NM_000899.4(KITLG):c.98T>C (p.Val33Ala)	4254	KITLG	Pathogenic	730882156	RCV000162036;	N	Gene:780897,MedGen:C1840392,OMIM:145250	12	88939560	88939560	NM_000899.4:c.98T>C	NP_000890.1:p.Val33Ala	NC_000012.11:g.88939560A>G	OMIM Allelic Variant:184745.0004	C1840392 145250 Familial progressive hyperpigmentation with or without hypopigmentation