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 57 12 25 75 40
Piebaldism 57 12 76 53 25 59 75 37 29 13 55 6 44 15 73
Pbt 57 53 25 75
Partial Albinism 12 29 6
Albinoidism, Oculocutaneous, Autosomal Dominant 73

Characteristics:

Orphanet epidemiological data:

59
piebaldism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant (4q11-q12)


HPO:

32
piebald trait:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 172800
Disease Ontology 12 DOID:3263
ICD10 33 E70.39
MeSH 44 D016116
NCIt 50 C85009
SNOMED-CT 68 6479008
Orphanet 59 ORPHA2884
MESH via Orphanet 45 D016116
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 74 C0080024
MedGen 42 C0080024
KEGG 37 H00170

Summaries for Piebald Trait

NIH Rare Diseases : 53 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 intellectual disability and ataxia

Genetics Home Reference : 25 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 : 57 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 : 75 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Wikipedia : 76 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 91)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 32.2 RAB27A MYO5A MLPH LYST
2 griscelli syndrome, type 2 31.7 RAB27A MYO5A MLPH LYST
3 neurofibromatosis, type i 30.5 PDGFRA KIT
4 waardenburg's syndrome 29.8 TYR SNAI2 PAX3 MITF KITLG KIT
5 mastocytosis 29.7 PDGFRA MITF KITLG KIT
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 megacolon 10.2
12 cutaneous ganglioneuroma 10.2 MITF KIT
13 cochlear disease 10.2 SNAI2 MITF
14 aggressive systemic mastocytosis 10.2 KITLG KIT
15 reticular perineurioma 10.2 PDGFRA KIT
16 sm-ahnmd 10.2 PDGFRA KIT
17 cutaneous solitary mastocytoma 10.2 KITLG KIT
18 gastric leiomyosarcoma 10.2 PDGFRA KIT
19 mast-cell leukemia 10.2 KITLG KIT
20 desmoid tumor 10.2 PDGFRA KIT
21 endometrial small cell carcinoma 10.2 PDGFRA KIT
22 conventional fibrosarcoma 10.2 PDGFRA KIT
23 pulmonary vein stenosis 10.2 PDGFRA KIT
24 lung adenoid cystic carcinoma 10.2 PDGFRA KIT
25 mast cell neoplasm 10.1 KITLG KIT
26 hypereosinophilic syndrome, idiopathic 10.1 PDGFRA KIT
27 waardenburg syndrome, type 3 10.1 PAX3 MITF
28 amelanotic melanoma 10.1 TYR KIT
29 ewing's family of tumors 10.1 KITLG KIT
30 mucosal melanoma 10.1 MITF KIT
31 carney triad 10.1 PDGFRA KIT
32 chronic eosinophilic leukemia 10.1 PDGFRA KIT
33 heart sarcoma 10.1 PDGFRA KIT
34 pigmentation disease 10.1 KITLG KIT
35 mesenchymal cell neoplasm 10.1 PDGFRA KIT
36 undifferentiated pleomorphic sarcoma 10.1 PDGFRA KIT
37 albinism, ocular, with late-onset sensorineural deafness 10.1 TYR MITF
38 albinism, ocular, with sensorineural deafness 10.1 TYR MITF
39 vulvar melanoma 10.1 TYR KIT
40 pigmented basal cell carcinoma 10.1 TYR MITF
41 griscelli syndrome, type 3 10.1 RAB27A MYO5A MLPH
42 hypomelanosis of ito 10.1 TYR MITF
43 childhood kidney cell carcinoma 10.1 PAX3 MITF
44 tonsil cancer 10.1 SNAI2 KIT
45 epithelioid cell melanoma 10.1 TYR MITF
46 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 TYR MITF
47 malignant skin fibrous histiocytoma 10.1 TYR KIT
48 hirschsprung disease 2 10.1
49 albinism 10.1
50 waardenburg syndrome, type 4b 10.1 SNAI2 PAX3 MITF

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



Diseases related to Piebald Trait

Symptoms & Phenotypes for Piebald Trait

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Piebald Trait:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
4 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
5 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
6 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
7 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
8 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
9 heterochromia iridis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001100
10 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
11 neoplasm of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008069
12 macule 59 32 frequent (33%) Frequent (79-30%) HP:0012733
13 white forelock 59 32 hallmark (90%) Very frequent (99-80%) HP:0002211
14 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
15 white eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002226
16 white eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0002227
17 piebaldism 59 32 hallmark (90%) Very frequent (99-80%) HP:0007544
18 abnormality of calvarial morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002648
19 neoplasm 32 HP:0002664
20 hypopigmentation of hair 59 Very frequent (99-80%)
21 partial albinism 32 HP:0007443
22 abnormality of the ear 32 HP:0000598
23 absent pigmentation of the ventral chest 32 HP:0007542

MGI Mouse Phenotypes related to Piebald Trait:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 FABP2 KIT KITLG LYST MITF MYO5A
2 homeostasis/metabolism MP:0005376 10.3 CLEC11A FABP2 KIT KITLG LYST MITF
3 behavior/neurological MP:0005386 10.25 KIT LYST MITF MYO5A PAX3 PDGFRA
4 immune system MP:0005387 10.25 KIT KITLG LYST MITF MLPH MYO5A
5 cellular MP:0005384 10.24 CLEC11A KIT KITLG LYST MITF PAX3
6 craniofacial MP:0005382 10.24 KIT KITLG LYST MITF MYO5A PAX3
7 hematopoietic system MP:0005397 10.24 CLEC11A KIT KITLG LYST MITF MYO5A
8 integument MP:0010771 10.24 KIT KITLG LYST MITF MLPH MYO5A
9 endocrine/exocrine gland MP:0005379 10.22 KIT KITLG LYST MITF PAX3 PDGFRA
10 limbs/digits/tail MP:0005371 10.13 CLEC11A KIT KITLG LYST MITF MYO5A
11 embryo MP:0005380 10.12 KIT KITLG MITF PAX3 PDGFRA SNAI2
12 mortality/aging MP:0010768 10.11 KIT KITLG LYST MITF MYO5A PAX3
13 nervous system MP:0003631 10.1 KIT KITLG LYST MITF MYO5A PAX3
14 hearing/vestibular/ear MP:0005377 10.09 KIT KITLG LYST MITF MYO5A PAX3
15 pigmentation MP:0001186 10.06 KIT KITLG LYST MITF MLPH MYO5A
16 neoplasm MP:0002006 9.91 KIT KITLG LYST PAX3 PDGFRA TYR
17 no phenotypic analysis MP:0003012 9.85 KIT LYST MITF PAX3 PDGFRA TYR
18 renal/urinary system MP:0005367 9.73 FABP2 KIT LYST PAX3 PDGFRA TYR
19 reproductive system MP:0005389 9.7 KIT KITLG MITF PDGFRA RAB27A SNAI2
20 skeleton MP:0005390 9.56 CLEC11A KIT KITLG MITF PAX3 PDGFRA
21 vision/eye MP:0005391 9.32 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 5538 444795
2 Pharmaceutical Solutions Phase 4
3
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
4 Immunologic Factors Phase 3
5 Adjuvants, Immunologic Phase 3
6 Viscosupplements Phase 3
7 Protective Agents 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 ReNovaCell in Non-segmental Vitiligo Unknown status NCT03022019 Not Applicable
6 Screening Protocol for Genetic Diseases of Allergic Inflammation Recruiting NCT00852943
7 Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways Recruiting NCT01164241

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 29 KIT SNAI2
2 Piebaldism 29

Anatomical Context for Piebald Trait

MalaCards organs/tissues related to Piebald Trait:

41
Skin, Eye, Bone, Lung, Kidney, Heart, Bone Marrow

Publications for Piebald Trait

Articles related to Piebald Trait:

(show all 20)
# Title Authors Year
1
An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis. ( 29400299 )
2018
2
In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response. ( 29631773 )
2018
3
Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation. ( 29693058 )
2018
4
Use of Epidermal Grafting for Treatment of Depigmented Skin in Piebaldism. ( 27399941 )
2017
5
Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family. ( 29200776 )
2017
6
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
7
A novel KIT missense mutation in one Chinese family with piebaldism. ( 19430803 )
2009
8
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. ( 17124503 )
2007
9
Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4). ( 9450862 )
1998
10
Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12. ( 9279767 )
1997
11
Piebaldism--a case report. ( 8843015 )
1996
12
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. ( 1376329 )
1992
13
Concurrence of dominant piebald trait and fragile X syndrome. ( 2014804 )
1991
14
Deletion of the c-kit protooncogene in the human developmental defect piebald trait. ( 1720553 )
1991
15
Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait. ( 2773996 )
1989
16
Homozygosity in piebald trait. ( 3669051 )
1987
17
Tentative assignment of piebald trait gene to chromosome band 4q12. ( 3733079 )
1986
18
Piebald trait in a retarded child with interstitial deletion of chromosome 4. ( 930930 )
1977
19
Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. ( 4140688 )
1974
20
Dominant piebald trait (white forelock and leukoderma) with neurological impairment. ( 5097904 )
1971

Variations for Piebald Trait

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

75
# 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 125)
# 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.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh38 Chromosome 4, 54736794: 54736794
41 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh37 Chromosome 4, 55602960: 55602960
42 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh38 Chromosome 4, 54737289: 54737289
43 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh37 Chromosome 4, 55603455: 55603455
44 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh38 Chromosome 4, 54658001: 54658001
45 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh37 Chromosome 4, 55524168: 55524168
46 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh38 Chromosome 4, 54727315: 54727315
47 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh37 Chromosome 4, 55593481: 55593481
48 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh38 Chromosome 4, 54733102: 54733102
49 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh37 Chromosome 4, 55599268: 55599268
50 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 GRCh38 Chromosome 4, 54736599: 54736599

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:

37
# 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 melanosome membrane GO:0033162 8.96 RAB27A TYR
3 melanosome GO:0042470 8.8 MYO5A RAB27A TYR

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.84 CLEC11A KIT KITLG PDGFRA
2 negative regulation of apoptotic process GO:0043066 9.77 KIT KITLG MITF PDGFRA SNAI2
3 positive regulation of protein kinase B signaling GO:0051897 9.69 KIT KITLG PDGFRA
4 phosphatidylinositol phosphorylation GO:0046854 9.65 KIT KITLG PDGFRA
5 response to radiation GO:0009314 9.55 KIT SNAI2
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.52 KIT PDGFRA
7 embryonic hemopoiesis GO:0035162 9.49 KIT KITLG
8 melanin biosynthetic process GO:0042438 9.46 MYO5A TYR
9 positive regulation of phospholipase C activity GO:0010863 9.43 KIT PDGFRA
10 developmental pigmentation GO:0048066 9.4 KIT MYO5A
11 melanosome transport GO:0032402 9.33 MLPH MYO5A RAB27A
12 ectopic germ cell programmed cell death GO:0035234 9.32 KIT KITLG
13 melanosome localization GO:0032400 9.26 MYO5A RAB27A
14 melanocyte differentiation GO:0030318 9.26 KIT MITF MYO5A RAB27A
15 pigmentation GO:0043473 9.17 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 9.93 FABP2 KIT KITLG LYST MITF MLPH
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 KIT KITLG PDGFRA
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 KIT KITLG PDGFRA

Sources for Piebald Trait

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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