PBT
MCID: PBL005
MIFTS: 58

Piebald Trait (PBT)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Piebald Trait

MalaCards integrated aliases for Piebald Trait:

Name: Piebald Trait 58 12 26 76 41
Piebaldism 58 12 77 54 26 60 76 38 13 56 6 45 15 74
Pbt 58 54 26 76
Partial Albinism 12 30 6
Albinoidism, Oculocutaneous, Autosomal Dominant 74

Characteristics:

Orphanet epidemiological data:

60
piebaldism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant (4q11-q12)


HPO:

33
piebald trait:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3263
OMIM 58 172800
KEGG 38 H00170
MeSH 45 D016116
NCIt 51 C85009
SNOMED-CT 69 6479008
ICD10 34 E70.39
MESH via Orphanet 46 D016116
ICD10 via Orphanet 35 E70.3
UMLS via Orphanet 75 C0080024
Orphanet 60 ORPHA2884
MedGen 43 C0080024

Summaries for Piebald Trait

NIH Rare Diseases : 54 Piebaldism is a rare inherited condition characterized by a white forelock (a patch of white hair directly above the forehead). The name piebaldism is derived from the words �??pie�?� (from magpie, which is a black and white bird) and �??bald�?� (from the bald eagle, the US national bird that has a white feathered head). Other features include a white patch on the central portion of the forehead; white eyebrow and eyelash hair; and white patches of skin on the face (particularly the chin), trunk and extremities (hands and feet are not usually affected). This condition is present at birth and usually remains unchanged throughout life. It is inherited in an autosomal dominant fashion and is caused by mutations in the KIT gene.

MalaCards based summary : Piebald Trait, also known as piebaldism, is related to griscelli syndrome and griscelli syndrome, type 2. An important gene associated with Piebald Trait is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Melanogenesis and Adherens junction. The drugs Tretinoin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are white forelock and piebaldism

Genetics Home Reference : 26 Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented.

OMIM : 58 Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004). (172800)

UniProtKB/Swiss-Prot : 76 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Wikipedia : 77 Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics... more...

Related Diseases for Piebald Trait

Diseases related to Piebald Trait via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 31.7 LYST MLPH MYO5A RAB27A SYTL2
2 griscelli syndrome, type 2 31.6 LYST MLPH MYO5A RAB27A
3 neurofibromatosis, type i 30.6 KIT PDGFRA
4 waardenburg's syndrome 30.0 KIT KITLG MITF PAX3 SNAI2
5 mastocytosis 29.6 KIT KITLG MITF PDGFRA
6 piebald trait with neurologic defects 12.3
7 telfer sugar jaeger syndrome 11.6
8 griscelli syndrome, type 1 11.3
9 albinism-deafness syndrome 11.3
10 immunodeficiency due to defect in mapbp-interacting protein 11.1
11 neurofibromatosis, type iv, of riccardi 10.4
12 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
13 cutaneous ganglioneuroma 10.3 KIT MITF
14 malignant spindle cell melanoma 10.3 KIT MITF
15 cochlear disease 10.3 MITF SNAI2
16 breast angiosarcoma 10.3 KIT MITF
17 aggressive systemic mastocytosis 10.3 KIT KITLG
18 reticular perineurioma 10.2 KIT PDGFRA
19 megacolon 10.2
20 sm-ahnmd 10.2 KIT PDGFRA
21 gastric leiomyosarcoma 10.2 KIT PDGFRA
22 beta-thalassemia 10.2
23 thalassemia 10.2
24 conventional fibrosarcoma 10.2 KIT PDGFRA
25 endometrial small cell carcinoma 10.2 KIT PDGFRA
26 cutaneous solitary mastocytoma 10.2 KIT KITLG
27 desmoid tumor 10.2 KIT PDGFRA
28 hypereosinophilic syndrome, idiopathic 10.2 KIT PDGFRA
29 mast-cell leukemia 10.2 KIT KITLG
30 waardenburg syndrome, type 3 10.2 MITF PAX3
31 mast cell neoplasm 10.2 KIT KITLG
32 lung adenoid cystic carcinoma 10.2 KIT PDGFRA
33 xp22.3 microdeletion syndrome 10.2
34 pulmonary vein stenosis 10.2 KIT PDGFRA
35 tietz albinism-deafness syndrome 10.2 MITF PAX3
36 carney triad 10.2 KIT PDGFRA
37 tonsil cancer 10.2 KIT SNAI2
38 ewing's family of tumors 10.2 KIT KITLG
39 albinism 10.2
40 heart sarcoma 10.2 KIT PDGFRA
41 mucosal melanoma 10.2 KIT MITF
42 chronic eosinophilic leukemia 10.2 KIT PDGFRA
43 mesenchymal cell neoplasm 10.2 KIT PDGFRA
44 undifferentiated pleomorphic sarcoma 10.1 KIT PDGFRA
45 childhood kidney cell carcinoma 10.1 MITF PAX3
46 hirschsprung disease 2 10.1
47 waardenburg syndrome, type 4b 10.1 MITF PAX3 SNAI2
48 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 MITF PAX3 SNAI2
49 waardenburg syndrome, type 1 10.1 MITF PAX3 SNAI2
50 graft-versus-host disease 10.1

Graphical network of the top 20 diseases related to Piebald Trait:



Diseases related to Piebald Trait

Symptoms & Phenotypes for Piebald Trait

Human phenotypes related to Piebald Trait:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 white forelock 60 33 hallmark (90%) Very frequent (99-80%) HP:0002211
2 piebaldism 60 33 hallmark (90%) Very frequent (99-80%) HP:0007544
3 hypopigmented skin patches 60 33 frequent (33%) Frequent (79-30%) HP:0001053
4 macule 60 33 frequent (33%) Frequent (79-30%) HP:0012733
5 white eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002226
6 white eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0002227
7 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
8 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
9 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
10 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
11 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
12 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
13 long philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000343
14 heterochromia iridis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001100
15 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
16 neoplasm of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008069
17 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
18 abnormality of calvarial morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002648
19 neoplasm 33 HP:0002664
20 hypopigmentation of hair 60 Very frequent (99-80%)
21 partial albinism 33 HP:0007443
22 abnormality of the ear 33 HP:0000598
23 absent pigmentation of the ventral chest 33 HP:0007542

Symptoms via clinical synopsis from OMIM:

58
Eyes:
heterochromia iridis

Oncology:
frequent epitheliomas

G I:
rare hirschsprung disease

Skin:
white forelock
piebaldism
absent pigmentation of medial forehead, eyebrows and chin
absent pigmentation of ventral chest, abdomen and limbs
hyperpigmented borders of unpigmented areas

Ears:
occasional deafness

Clinical features from OMIM:

172800

MGI Mouse Phenotypes related to Piebald Trait:

47 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 FABP2 KIT KITLG LYST MITF MYO5A
2 homeostasis/metabolism MP:0005376 10.2 CLEC11A FABP2 KIT KITLG LYST MITF
3 behavior/neurological MP:0005386 10.18 KIT LYST MITF MYO5A PAX3 PDGFRA
4 hematopoietic system MP:0005397 10.18 CLEC11A KIT KITLG LYST MITF MYO5A
5 cellular MP:0005384 10.17 CLEC11A KIT KITLG LYST MITF PAX3
6 craniofacial MP:0005382 10.16 KIT KITLG LYST MITF MYO5A PAX3
7 endocrine/exocrine gland MP:0005379 10.13 KIT KITLG LYST MITF PAX3 PDGFRA
8 immune system MP:0005387 10.13 KIT KITLG LYST MITF MLPH MYO5A
9 integument MP:0010771 10.1 KIT KITLG LYST MITF MLPH MYO5A
10 digestive/alimentary MP:0005381 10.02 KIT KITLG PAX3 PDGFRA SNAI2 SYTL2
11 embryo MP:0005380 10.01 KIT KITLG MITF PAX3 PDGFRA SNAI2
12 hearing/vestibular/ear MP:0005377 9.97 KIT KITLG LYST MITF MYO5A PAX3
13 limbs/digits/tail MP:0005371 9.97 CLEC11A KIT KITLG LYST MITF MYO5A
14 nervous system MP:0003631 9.91 KIT KITLG LYST MITF MYO5A PAX3
15 pigmentation MP:0001186 9.85 KIT KITLG LYST MITF MLPH MYO5A
16 neoplasm MP:0002006 9.72 KIT KITLG LYST PAX3 PDGFRA
17 skeleton MP:0005390 9.5 CLEC11A KIT KITLG MITF PAX3 PDGFRA
18 vision/eye MP:0005391 9.28 KIT KITLG LYST MITF MLPH MYO5A

Drugs & Therapeutics for Piebald Trait

Drugs for Piebald Trait (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
2 Pharmaceutical Solutions Phase 4
3
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
4 Immunologic Factors Phase 3
5 Protective Agents Phase 3
6 Adjuvants, Immunologic Phase 3
7 Viscosupplements Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
2 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
3 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
4 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
5 Screening Protocol for Genetic Diseases of Allergic Inflammation Recruiting NCT00852943
6 ReNovaCell in Non-segmental Vitiligo Active, not recruiting NCT03022019 Not Applicable

Search NIH Clinical Center for Piebald Trait

Cochrane evidence based reviews: piebaldism

Genetic Tests for Piebald Trait

Genetic tests related to Piebald Trait:

# Genetic test Affiliating Genes
1 Partial Albinism 30 KIT SNAI2

Anatomical Context for Piebald Trait

MalaCards organs/tissues related to Piebald Trait:

42
Skin, Eye, Bone, Kidney, Heart, Bone Marrow, Tonsil

Publications for Piebald Trait

Articles related to Piebald Trait:

(show top 50) (show all 125)
# Title Authors Year
1
Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. ( 30561083 )
2019
2
Extending the Mathematical Palette for Developmental Pattern Formation: Piebaldism. ( 30689102 )
2019
3
Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development. ( 30983016 )
2019
4
An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis. ( 29400299 )
2018
5
In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response. ( 29631773 )
2018
6
Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation. ( 29693058 )
2018
7
Optimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial. ( 27309418 )
2017
8
Use of Epidermal Grafting for Treatment of Depigmented Skin in Piebaldism. ( 27399941 )
2017
9
Autologous cell suspension grafting in segmental vitiligo and piebaldism: a randomized controlled trial comparing full surface and fractional CO2 laser recipient-site preparations. ( 28403523 )
2017
10
Association of Piebaldism with Café-au-Lait Macules. ( 28705289 )
2017
11
Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family. ( 29200776 )
2017
12
A novel mutation of KIT gene results in piebaldism in a Chinese family. ( 25199540 )
2016
13
Piebaldism in children. ( 26919497 )
2016
14
A case of piebaldism in a two-year-old female infant. ( 27068599 )
2016
15
Piebaldism in History-"The Zebra People". ( 27829108 )
2016
16
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. ( 25355368 )
2015
17
Spontaneous repigmentation in an infant with piebaldism. ( 25773601 )
2015
18
Molecular characterization of piebaldism in a Tunisian family. ( 25910686 )
2015
19
A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling. ( 25960657 )
2015
20
Piebaldism. ( 25991872 )
2015
21
Autologous cell suspension transplantation using a cell extraction device in segmental vitiligo and piebaldism patients: A randomized controlled pilot study. ( 26089056 )
2015
22
Piebaldism with neurofibromatosis type I: a familial case. ( 24882989 )
2014
23
SNAI2 mutation causes human piebaldism. ( 24443330 )
2014
24
Piebaldism with non-intertriginous freckles: what does it mean? ( 24685861 )
2014
25
Piebaldism in a 3-month-old infant--case report. ( 24961053 )
2014
26
Piebaldism and neurofibromatosis: state of knowledge. ( 23374959 )
2013
27
Piebaldism. ( 22670867 )
2013
28
Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). ( 23016555 )
2013
29
A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism. ( 23083126 )
2013
30
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder. ( 23399981 )
2013
31
A novel mutation of the KIT gene in a Chinese family with piebaldism. ( 23786947 )
2013
32
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. ( 24000325 )
2013
33
Glycogen storage disease 1a with piebaldism. ( 22484741 )
2012
34
Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. ( 22438235 )
2012
35
Molecular characterization of two novel KIT mutations in patients with piebaldism. ( 22264755 )
2012
36
Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds. ( 22486495 )
2012
37
Piebaldism: A brief report and review of the literature. ( 23130293 )
2012
38
Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. ( 22136869 )
2011
39
Piebaldism in a 2-year-old girl. ( 21382296 )
2011
40
Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT. ( 21680281 )
2011
41
Piebaldism. ( 21918288 )
2011
42
Piebaldism and neurofibromatosis type 1: family report. ( 20137753 )
2010
43
Melanocyte transplant in piebaldism: case report. ( 20676476 )
2010
44
A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype. ( 20688482 )
2010
45
Long-term results of noncultured epidermal cellular grafting in vitiligo, halo naevi, piebaldism and naevus depigmentosus. ( 20804490 )
2010
46
In vivo and in vitro evidence for epidermal H2O2-mediated oxidative stress in piebaldism. ( 19758321 )
2010
47
Simplified cellular grafting for treatment of vitiligo and piebaldism: the "6-well plate" technique. ( 20039922 )
2010
48
A novel KIT missense mutation in one Chinese family with piebaldism. ( 19430803 )
2009
49
Familial case of piebaldism with regression of white forelock. ( 18355360 )
2008
50
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. ( 17124503 )
2007

Variations for Piebald Trait

UniProtKB/Swiss-Prot genetic disease variations for Piebald Trait:

76
# Symbol AA change Variation ID SNP ID
1 KIT p.Glu583Lys VAR_004104 rs121913680
2 KIT p.Phe584Leu VAR_004105 rs794726671
3 KIT p.Gly664Arg VAR_004106 rs121913679
4 KIT p.Arg791Gly VAR_004107
5 KIT p.Gly812Val VAR_004108
6 KIT p.Phe584Cys VAR_033129 rs28933371
7 KIT p.Gly601Arg VAR_033130
8 KIT p.Leu656Pro VAR_033131
9 KIT p.Arg796Gly VAR_033132 rs121913684
10 KIT p.Thr847Pro VAR_033137 rs121913687

ClinVar genetic disease variations for Piebald Trait:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh37 Chromosome 8, 49831366: 49833824
2 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh38 Chromosome 8, 48918807: 48921265
3 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh37 Chromosome 8, 49831366: 49833824
4 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh38 Chromosome 8, 48918807: 48921265
5 KIT NM_000222.2(KIT): c.1990G> A (p.Gly664Arg) single nucleotide variant Pathogenic rs121913679 GRCh37 Chromosome 4, 55594287: 55594287
6 KIT NM_000222.2(KIT): c.1990G> A (p.Gly664Arg) single nucleotide variant Pathogenic rs121913679 GRCh38 Chromosome 4, 54728121: 54728121
7 KIT KIT, DEL deletion Pathogenic
8 KIT NM_000222.2(KIT): c.1752T> G (p.Phe584Leu) single nucleotide variant Pathogenic rs794726671 GRCh37 Chromosome 4, 55593686: 55593686
9 KIT NM_000222.2(KIT): c.1752T> G (p.Phe584Leu) single nucleotide variant Pathogenic rs794726671 GRCh38 Chromosome 4, 54727520: 54727520
10 KIT NM_000222.2(KIT): c.1925_1926delAA (p.Lys642Serfs) deletion Pathogenic rs794726672 GRCh37 Chromosome 4, 55594222: 55594223
11 KIT NM_000222.2(KIT): c.1925_1926delAA (p.Lys642Serfs) deletion Pathogenic rs794726672 GRCh38 Chromosome 4, 54728056: 54728057
12 KIT NM_000222.2(KIT): c.1681dupG (p.Glu561Glyfs) duplication Pathogenic rs794726673 GRCh37 Chromosome 4, 55593615: 55593615
13 KIT NM_000222.2(KIT): c.1681dupG (p.Glu561Glyfs) duplication Pathogenic rs794726673 GRCh38 Chromosome 4, 54727449: 54727449
14 KIT NM_000222.2(KIT): c.1747G> A (p.Glu583Lys) single nucleotide variant Pathogenic rs121913680 GRCh37 Chromosome 4, 55593681: 55593681
15 KIT NM_000222.2(KIT): c.1747G> A (p.Glu583Lys) single nucleotide variant Pathogenic rs121913680 GRCh38 Chromosome 4, 54727515: 54727515
16 KIT NM_000222.2(KIT): c.253delG (p.Glu85Lysfs) deletion Pathogenic rs794726674 GRCh37 Chromosome 4, 55561863: 55561863
17 KIT NM_000222.2(KIT): c.253delG (p.Glu85Lysfs) deletion Pathogenic rs794726674 GRCh38 Chromosome 4, 54695697: 54695697
18 KIT NM_000222.2(KIT): c.1879+1G> A single nucleotide variant Pathogenic rs794726675 GRCh37 Chromosome 4, 55594094: 55594094
19 KIT NM_000222.2(KIT): c.1879+1G> A single nucleotide variant Pathogenic rs794726675 GRCh38 Chromosome 4, 54727928: 54727928
20 KIT NM_000222.2(KIT): c.2539A> C (p.Thr847Pro) single nucleotide variant Pathogenic rs121913687 GRCh37 Chromosome 4, 55602718: 55602718
21 KIT NM_000222.2(KIT): c.2539A> C (p.Thr847Pro) single nucleotide variant Pathogenic rs121913687 GRCh38 Chromosome 4, 54736552: 54736552
22 KIT NM_000222.2(KIT): c.1751T> G (p.Phe584Cys) single nucleotide variant Pathogenic rs28933371 GRCh37 Chromosome 4, 55593685: 55593685
23 KIT NM_000222.2(KIT): c.1751T> G (p.Phe584Cys) single nucleotide variant Pathogenic rs28933371 GRCh38 Chromosome 4, 54727519: 54727519
24 KIT NM_000222.2(KIT): c.1621A> C (p.Met541Leu) single nucleotide variant Benign/Likely benign rs3822214 GRCh37 Chromosome 4, 55593464: 55593464
25 KIT NM_000222.2(KIT): c.1621A> C (p.Met541Leu) single nucleotide variant Benign/Likely benign rs3822214 GRCh38 Chromosome 4, 54727298: 54727298
26 KIT NM_000222.2(KIT): c.532G> A (p.Ala178Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115585711 GRCh37 Chromosome 4, 55564644: 55564644
27 KIT NM_000222.2(KIT): c.532G> A (p.Ala178Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115585711 GRCh38 Chromosome 4, 54698478: 54698478
28 KIT NM_000222.2(KIT): c.952A> G (p.Met318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143388949 GRCh37 Chromosome 4, 55573290: 55573290
29 KIT NM_000222.2(KIT): c.952A> G (p.Met318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143388949 GRCh38 Chromosome 4, 54707124: 54707124
30 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh37 Chromosome 4, 55561862: 55561862
31 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh38 Chromosome 4, 54695696: 54695696
32 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh38 Chromosome 4, 54709427: 54709427
33 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh37 Chromosome 4, 55575593: 55575593
34 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh38 Chromosome 4, 54727842: 54727842
35 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh37 Chromosome 4, 55594008: 55594008
36 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh38 Chromosome 4, 54695644: 54695644
37 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh37 Chromosome 4, 55561810: 55561810
38 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh38 Chromosome 4, 54723626: 54723626
39 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh37 Chromosome 4, 55589792: 55589792
40 KIT NM_000222.2(KIT): c.1553C> T (p.Pro518Leu) single nucleotide variant Uncertain significance rs569408054 GRCh38 Chromosome 4, 54727230: 54727230
41 KIT NM_000222.2(KIT): c.1553C> T (p.Pro518Leu) single nucleotide variant Uncertain significance rs569408054 GRCh37 Chromosome 4, 55593396: 55593396
42 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh38 Chromosome 4, 54736794: 54736794
43 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh37 Chromosome 4, 55602960: 55602960
44 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh38 Chromosome 4, 54737289: 54737289
45 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh37 Chromosome 4, 55603455: 55603455
46 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant Uncertain significance rs773828910 GRCh38 Chromosome 4, 54738507: 54738507
47 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant Uncertain significance rs773828910 GRCh37 Chromosome 4, 55604673: 55604673
48 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh38 Chromosome 4, 54658001: 54658001
49 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh37 Chromosome 4, 55524168: 55524168
50 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh38 Chromosome 4, 54727315: 54727315

Expression for Piebald Trait

Search GEO for disease gene expression data for Piebald Trait.

Pathways for Piebald Trait

Pathways related to Piebald Trait according to KEGG:

38
# Name Kegg Source Accession
1 Melanogenesis hsa04916
2 Adherens junction hsa04520

GO Terms for Piebald Trait

Cellular components related to Piebald Trait according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.85 CLEC11A FABP2 KIT KITLG LYST MLPH
2 exocytic vesicle GO:0070382 8.96 RAB27A SYTL2
3 melanosome GO:0042470 8.8 MYO5A RAB27A SYTL2

Biological processes related to Piebald Trait according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 CLEC11A KIT KITLG PDGFRA
2 positive regulation of protein kinase B signaling GO:0051897 9.67 KIT KITLG PDGFRA
3 exocytosis GO:0006887 9.63 MYO5A RAB27A SYTL2
4 response to radiation GO:0009314 9.54 KIT SNAI2
5 negative regulation of apoptotic process GO:0043066 9.54 KITLG MITF SNAI2
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.51 KIT PDGFRA
7 embryonic hemopoiesis GO:0035162 9.48 KIT KITLG
8 positive regulation of phospholipase C activity GO:0010863 9.43 KIT PDGFRA
9 developmental pigmentation GO:0048066 9.4 KIT MYO5A
10 melanosome transport GO:0032402 9.33 MLPH MYO5A RAB27A
11 ectopic germ cell programmed cell death GO:0035234 9.32 KIT KITLG
12 melanosome localization GO:0032400 9.26 MYO5A RAB27A
13 melanocyte differentiation GO:0030318 9.26 KIT MITF MYO5A RAB27A
14 pigmentation GO:0043473 9.1 KIT LYST MITF MYO5A RAB27A SNAI2

Molecular functions related to Piebald Trait according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 FABP2 KIT KITLG LYST MITF MLPH
2 Rab GTPase binding GO:0017137 8.8 MLPH MYO5A SYTL2

Sources for Piebald Trait

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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