MCID: PBL005
MIFTS: 54

Piebald Trait

Categories: Genetic diseases, Rare diseases, Eye 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:



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 and eye, and related phenotypes are intellectual disability and ataxia

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.

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.

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 54)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 31.6 MLPH MYO5A RAB27A
2 griscelli syndrome, type 2 31.1 MLPH MYO5A RAB27A
3 piebald trait with neurologic defects 12.1
4 telfer sugar jaeger syndrome 11.4
5 griscelli syndrome, type 1 11.1
6 immunodeficiency due to defect in mapbp-interacting protein 10.9
7 cutaneous ganglioneuroma 10.7 KIT MITF
8 malignant spindle cell melanoma 10.7 KIT MITF
9 breast angiosarcoma 10.7 KIT MITF
10 reticular perineurioma 10.6 KIT PDGFRA
11 sm-ahnmd 10.6 KIT PDGFRA
12 cutaneous mastocytosis 10.6 KIT KITLG
13 waardenburg syndrome, type 1 10.6 MITF PAX3
14 gastric leiomyosarcoma 10.6 KIT PDGFRA
15 aggressive systemic mastocytosis 10.6 KIT KITLG
16 desmoid tumor 10.6 KIT PDGFRA
17 sarcomatoid renal cell carcinoma 10.6 KIT PDGFRA
18 conventional fibrosarcoma 10.6 KIT PDGFRA
19 urticaria pigmentosa 10.6 KIT KITLG
20 endometrial small cell carcinoma 10.6 KIT PDGFRA
21 pulmonary vein stenosis 10.6 KIT PDGFRA
22 cutaneous solitary mastocytoma 10.5 KIT KITLG
23 tietz albinism-deafness syndrome 10.5 MITF PAX3
24 hypereosinophilic syndrome, idiopathic 10.5 KIT PDGFRA
25 undifferentiated pleomorphic sarcoma 10.5 KIT PDGFRA
26 lung adenoid cystic carcinoma 10.5 KIT PDGFRA
27 mucosal melanoma 10.5 KIT MITF
28 carney triad 10.5 KIT PDGFRA
29 heart sarcoma 10.5 KIT PDGFRA
30 chronic eosinophilic leukemia 10.4 KIT PDGFRA
31 ewing's family of tumors 10.4 KIT KITLG
32 mesenchymal cell neoplasm 10.4 KIT PDGFRA
33 cochlear disease 10.3 MITF PAX3 SNAI2
34 childhood kidney cell carcinoma 10.3 MITF PAX3
35 dowling-degos disease 1 10.3 KIT KITLG MITF
36 waardenburg syndrome, type 2e 10.3 KITLG MITF SNAI2
37 neurofibromatosis, type i 10.2 KIT PDGFRA
38 systemic mastocytosis 10.2 KIT KITLG PDGFRA
39 leukocyte disease 10.2 KIT KITLG PDGFRA
40 mast-cell leukemia 10.2 KIT KITLG
41 polycythemia vera 10.2 KIT KITLG PDGFRA
42 bone marrow cancer 10.2 KIT KITLG PDGFRA
43 gastrointestinal stromal tumor 10.1 KIT KITLG PDGFRA
44 albinism 10.1
45 fibrosarcoma of bone 10.0 KIT PDGFRA
46 fragile x syndrome 9.9
47 leukemia, chronic myeloid 9.8 KIT KITLG PDGFRA
48 mast cell neoplasm 9.8 KIT KITLG
49 neurofibroma 9.8 KIT KITLG MITF PDGFRA
50 mast cell disease 9.8 KIT KITLG MITF PDGFRA

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

GI:
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 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.19 KITLG FABP2 KIT MITF SNAI2 PDGFRA
2 hematopoietic system MP:0005397 10.16 KITLG CLEC11A KIT MITF SNAI2 PDGFRA
3 behavior/neurological MP:0005386 10.15 KIT MITF PAX3 PDGFRA MYO5A RAB27A
4 craniofacial MP:0005382 10.14 KITLG KIT MITF PDGFRA MYO5A PAX3
5 homeostasis/metabolism MP:0005376 10.13 MLPH KITLG CLEC11A FABP2 KIT MITF
6 immune system MP:0005387 10.1 MLPH KITLG KIT MITF SNAI2 PDGFRA
7 endocrine/exocrine gland MP:0005379 10.05 KITLG KIT MITF PDGFRA RAB27A PAX3
8 integument MP:0010771 10.02 MLPH KITLG KIT MITF PDGFRA MYO5A
9 embryo MP:0005380 10 KITLG KIT MITF PAX3 PDGFRA SNAI2
10 limbs/digits/tail MP:0005371 9.92 KITLG CLEC11A KIT MITF PDGFRA MYO5A
11 nervous system MP:0003631 9.91 KITLG KIT MITF PDGFRA MYO5A RAB27A
12 hearing/vestibular/ear MP:0005377 9.88 KITLG KIT MITF PAX3 MYO5A
13 pigmentation MP:0001186 9.81 MLPH MYO5A KIT MITF KITLG PDGFRA
14 skeleton MP:0005390 9.5 KITLG CLEC11A KIT MITF PDGFRA PAX3
15 vision/eye MP:0005391 9.23 MLPH KITLG KIT MITF SNAI2 MYO5A

Drugs & Therapeutics for Piebald Trait

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

(show all 6)
# 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 Adjuvants, Immunologic Phase 3
5 Protective Agents Phase 3
6 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 Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways Recruiting NCT01164241
7 ReNovaCell in Non-segmental Vitiligo Enrolling by invitation 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 29 KIT SNAI2
2 Piebaldism 29

Anatomical Context for Piebald Trait

MalaCards organs/tissues related to Piebald Trait:

41
Skin, Eye

Publications for Piebald Trait

Articles related to Piebald Trait:

(show all 12)
# Title Authors Year
1
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. ( 17124503 )
2007
2
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
3
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
4
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. ( 1376329 )
1992
5
Concurrence of dominant piebald trait and fragile X syndrome. ( 2014804 )
1991
6
Deletion of the c-kit protooncogene in the human developmental defect piebald trait. ( 1720553 )
1991
7
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
8
Homozygosity in piebald trait. ( 3669051 )
1987
9
Tentative assignment of piebald trait gene to chromosome band 4q12. ( 3733079 )
1986
10
Piebald trait in a retarded child with interstitial deletion of chromosome 4. ( 930930 )
1977
11
Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. ( 4140688 )
1974
12
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 124)
# 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.532G> A (p.Ala178Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115585711 GRCh37 Chromosome 4, 55564644: 55564644
25 KIT NM_000222.2(KIT): c.532G> A (p.Ala178Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115585711 GRCh38 Chromosome 4, 54698478: 54698478
26 KIT NM_000222.2(KIT): c.952A> G (p.Met318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143388949 GRCh37 Chromosome 4, 55573290: 55573290
27 KIT NM_000222.2(KIT): c.952A> G (p.Met318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143388949 GRCh38 Chromosome 4, 54707124: 54707124
28 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh37 Chromosome 4, 55561862: 55561862
29 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh38 Chromosome 4, 54695696: 54695696
30 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh38 Chromosome 4, 54709427: 54709427
31 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh37 Chromosome 4, 55575593: 55575593
32 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh38 Chromosome 4, 54727842: 54727842
33 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh37 Chromosome 4, 55594008: 55594008
34 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh38 Chromosome 4, 54695644: 54695644
35 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh37 Chromosome 4, 55561810: 55561810
36 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh38 Chromosome 4, 54723626: 54723626
37 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh37 Chromosome 4, 55589792: 55589792
38 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh38 Chromosome 4, 54736794: 54736794
39 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh37 Chromosome 4, 55602960: 55602960
40 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh38 Chromosome 4, 54737289: 54737289
41 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh37 Chromosome 4, 55603455: 55603455
42 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Uncertain significance rs140909964 GRCh38 Chromosome 4, 54658001: 54658001
43 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Uncertain significance rs140909964 GRCh37 Chromosome 4, 55524168: 55524168
44 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh38 Chromosome 4, 54727315: 54727315
45 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh37 Chromosome 4, 55593481: 55593481
46 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh38 Chromosome 4, 54733102: 54733102
47 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh37 Chromosome 4, 55599268: 55599268
48 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Likely benign rs3733542 GRCh38 Chromosome 4, 54736599: 54736599
49 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Likely benign rs3733542 GRCh37 Chromosome 4, 55602765: 55602765
50 complex Uncertain significance

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

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 KIT MITF PAX3 PDGFRA SNAI2 SPRED1
2 positive regulation of cell proliferation GO:0008284 9.86 CLEC11A KIT KITLG PDGFRA
3 positive regulation of cell migration GO:0030335 9.74 KIT PDGFRA SNAI2
4 negative regulation of apoptotic process GO:0043066 9.72 KIT KITLG MITF PDGFRA SNAI2
5 positive regulation of protein kinase B signaling GO:0051897 9.71 KIT KITLG PDGFRA
6 MAPK cascade GO:0000165 9.71 KIT KITLG PDGFRA SPRED1
7 phosphatidylinositol phosphorylation GO:0046854 9.67 KIT KITLG PDGFRA
8 ovarian follicle development GO:0001541 9.58 KIT KITLG
9 response to radiation GO:0009314 9.58 KIT SNAI2
10 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.55 KIT PDGFRA
11 embryonic hemopoiesis GO:0035162 9.52 KIT KITLG
12 developmental pigmentation GO:0048066 9.51 KIT MYO5A
13 positive regulation of phospholipase C activity GO:0010863 9.46 KIT PDGFRA
14 vesicle transport along actin filament GO:0030050 9.43 MLPH MYO5A
15 ectopic germ cell programmed cell death GO:0035234 9.37 KIT KITLG
16 melanosome transport GO:0032402 9.33 MLPH MYO5A RAB27A
17 melanosome localization GO:0032400 9.26 MYO5A RAB27A
18 melanocyte differentiation GO:0030318 9.26 KIT MITF MYO5A RAB27A
19 pigmentation GO:0043473 9.02 KIT MITF MYO5A RAB27A SNAI2

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 KIT KITLG PDGFRA
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 KIT KITLG PDGFRA
3 stem cell factor receptor binding GO:0005173 8.62 KITLG SPRED1

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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