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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Pigmentation Disorders (D010859)
Parent Node: Skin Abnormalities (D012868)
..Starting node ..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
Child Nodes:
Sister Nodes:
..Acrodermatitis (D000169) 1
..Anetoderma (D057088) 2
..Arthropathy, Erosive (C565273)
..Barber Say syndrome (C537908)
..Blepharophimosis syndrome type 1 (C536233)
..Blepharophimosis syndrome type 2 (C536234)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..Book Syndrome (C562993)
..Carney Complex (D056733) 1
..COCOON SYNDROME (OMIM:613630)
..Comedones, Familial Dyskeratotic (C562838)
..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
..Dermal Ridges, Nelson Syndrome (C565110)
..Dermal Ridges, Patternless (C565109)
..Dermoodontodysplasia (C565103)
..Dyskeratosis Congenita (D019871) 3
..Dyskeratosis, Hereditary Benign Intraepithelial (C562551)
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Familial popliteal pterygium syndrome (C535891)
..Hairy palms and soles (C535620)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..Ichthyosis (D007057) 66
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Incontinentia Pigmenti (D007184) 2
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Michelin tire baby syndrome (C537575)
..Microphthalmia, syndromic 7 (C537466)
..Multiple pterygium syndrome (C537377) 1
..Oculocerebrocutaneous syndrome (C538088)
..Poikiloderma with Neutropenia (C565820)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Port-Wine Stain (D019339) 4
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Pterygium Colli, Isolated (C566741)
..Ridges-off-the-end syndrome (C531754)
..Rothmund-Thomson Syndrome (D011038) 5
..Sclerema Neonatorum (D012593)
..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)
..Tight skin contracture syndrome, lethal (C536920)
..Trichothiodystrophy Syndromes (D054463) 5
..Urban Schosser Spohn syndrome (C536476)
..Vascular Hyalinosis (C564750)
..Winter Shortland Temple syndrome (C536735)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10290

Name:

Skin/Hair/Eye Pigmentation, Variation In, 4

Definition:

Alternative IDs:

ParentIDs:

MESH:D010859|MESH:D012868

TreeNumbers:

C16.131.831/C567300 |C17.800.621/C567300 |C17.800.804/C567300

Synonyms:

Shep4 |Skin/Hair/Eye Pigmentation 4, Fair/Dark Skin

Slim Mappings:

Congenital abnormality|Skin disease

Reference:

MedGen: C567300
MeSH: C567300
OMIM: 113750;

Genes: SLC24A5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0001595	Abnormal hair morphology
4	HP:0000639	Nystagmus
5	HP:0000613	Photophobia
6	HP:0007663	Reduced visual acuity
7	HP:0000505	Visual impairment

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	Disease_hgmd
NM_205850.2(SLC24A5):c.331A= (p.Thr111=)	283652	SLC24A5	association	1426654	RCV000001552;	N	MedGen:C2676042,OMIM:113750,ORPHA:370097	15	48426484	48426484	NM_205850.2:c.331A=	NP_995322.1:p.Thr111=	NC_000015.9:g.48426484Ax3d	OMIM Allelic Variant:609802.0001	C2676042 113750 Skin/hair/eye pigmentation, variation in, 4