PBT
MCID: PBL005
MIFTS: 59

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 43 72 39
Piebaldism 57 12 73 20 43 58 72 36 13 54 44 15 70
Pbt 57 20 43 72
Partial Albinism 12 29 6
Albinoidism, Oculocutaneous, Autosomal Dominant 70

Characteristics:

Orphanet epidemiological data:

58
piebaldism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant (4q11-q12)


HPO:

31
piebald trait:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3263
OMIM® 57 172800
KEGG 36 H00170
MeSH 44 D016116
NCIt 50 C85009
SNOMED-CT 67 718122005
ICD10 32 E70.39
MESH via Orphanet 45 D016116
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 71 C0080024
Orphanet 58 ORPHA2884
MedGen 41 C0080024
UMLS 70 C0080024 C1876214

Summaries for Piebald Trait

MedlinePlus Genetics : 43 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.People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas.In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.

MalaCards based summary : Piebald Trait, also known as piebaldism, is related to griscelli syndrome, type 1 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 white forelock and piebaldism

Disease Ontology : 12 An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has material basis in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively.

GARD : 20 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Piebaldism is caused by mutation of kit proto-oncogene, or snail 2 transcription factor, implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected areas of the skin and hair.

UniProtKB/Swiss-Prot : 72 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Wikipedia : 73 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 191)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 32.4 RAB27A MYO5A MLPH
2 griscelli syndrome, type 2 32.3 UNC13D RAB27B RAB27A MYO5A MLPH LYST
3 griscelli syndrome 31.5 UNC13D TYRP1 TYR RAB38 RAB27B RAB27A
4 vitiligo-associated multiple autoimmune disease susceptibility 1 30.6 TYRP1 TYR MITF MC1R KITLG
5 dowling-degos disease 1 30.1 TYRP1 TYR MITF KITLG KIT
6 chediak-higashi syndrome 30.1 UNC13D TYRP1 TYR RAB27A MYO5A LYST
7 albinism 30.1 TYRP1 TYR OCA2 MITF MC1R
8 mastocytosis 30.1 PDGFRA MITF KITLG KIT
9 megacolon 30.0 SOX10 PAX3 EDN3
10 ocular albinism 30.0 TYRP1 TYR OCA2 MITF
11 albinism, oculocutaneous, type ii 30.0 TYRP1 TYR OCA2 MC1R
12 neurofibromatosis, type i 30.0 PDGFRA KITLG KIT
13 oculocutaneous albinism 29.8 TYRP1 TYR RAB38 OCA2 MITF MC1R
14 neurofibroma 29.7 TYR SOX10 PDGFRA MITF KITLG KIT
15 waardenburg syndrome, type 1 29.7 TYR SOX10 SNAI2 PAX3 MITF EDN3
16 waardenburg syndrome, type 4a 29.7 TYR SOX10 SNAI2 PAX3 MITF EDN3
17 microphthalmia 29.4 TYRP1 TYR SOX10 RAB27A PAX3 MYO5A
18 tietz albinism-deafness syndrome 29.3 TYRP1 TYR SOX10 SNAI2 PAX3 MITF
19 waardenburg's syndrome 29.2 TYRP1 TYR SOX10 SNAI2 PAX3 OCA2
20 piebald trait with neurologic defects 11.6
21 immunodeficiency due to defect in mapbp-interacting protein 11.0
22 reticular perineurioma 10.4 PDGFRA KIT
23 deep leiomyoma 10.4 PDGFRA KIT
24 laryngeal small cell carcinoma 10.4 PDGFRA KIT
25 extracutaneous mastocytoma 10.4 KITLG KIT
26 gastric leiomyoma 10.4 PDGFRA KIT
27 gastric leiomyosarcoma 10.4 PDGFRA KIT
28 primary hemophagocytic lymphohistiocytosis 10.4 UNC13D RAB27A
29 small intestinal sarcoma 10.4 PDGFRA KIT
30 cutaneous solitary mastocytoma 10.4 KITLG KIT
31 colon leiomyosarcoma 10.4 PDGFRA KIT
32 pulmonary vein stenosis 10.4 PDGFRA KIT
33 vitiligo-associated multiple autoimmune disease susceptibility 6 10.4
34 small intestine leiomyoma 10.4 PDGFRA KIT
35 cutaneous ganglioneuroma 10.4 MITF KIT
36 conventional fibrosarcoma 10.4 PDGFRA PAX3 KIT
37 sm-ahnmd 10.4 PDGFRA KITLG KIT
38 lentigo maligna melanoma 10.3 MITF MC1R
39 griscelli syndrome, type 3 10.3 RAB27A MYO5A MLPH
40 neurofibromatosis 10.3
41 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.3 PDGFRA KIT
42 melanoma, cutaneous malignant 8 10.3 TYR MITF
43 hypereosinophilic syndrome, idiopathic 10.3 PDGFRA KIT
44 epithelioid cell melanoma 10.3 TYR MITF
45 pigmentation disease 10.3 TYR MITF KIT
46 ocular albinism with congenital sensorineural deafness 10.3 TYR PAX3 MITF
47 albinism, ocular, with late-onset sensorineural deafness 10.3 TYR PAX3 MITF
48 plexiform schwannoma 10.3 SOX10 KIT
49 mast-cell sarcoma 10.3 KITLG KIT
50 aggressive systemic mastocytosis 10.3 PDGFRA KITLG KIT

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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 white forelock 58 31 hallmark (90%) Very frequent (99-80%) HP:0002211
2 piebaldism 58 31 hallmark (90%) Very frequent (99-80%) HP:0007544
3 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
4 macule 58 31 frequent (33%) Frequent (79-30%) HP:0012733
5 white eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002226
6 white eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0002227
7 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
9 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
10 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
11 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
13 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
14 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
15 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
16 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
17 abnormality of calvarial morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002648
18 hypotonia 31 occasional (7.5%) HP:0001252
19 muscular hypotonia 58 Occasional (29-5%)
20 neoplasm 31 HP:0002664
21 hypopigmentation of hair 58 Very frequent (99-80%)
22 partial albinism 31 HP:0007443
23 abnormality of the ear 31 HP:0000598
24 absent pigmentation of the ventral chest 31 HP:0007542

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Piebald Trait according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.55 PDGFRA
2 Decreased viability GR00221-A-1 9.55 KIT PDGFRA
3 Decreased viability GR00221-A-3 9.55 PDGFRA
4 Decreased viability GR00221-A-4 9.55 PDGFRA
5 Decreased viability GR00240-S-1 9.55 SOX10
6 Decreased viability GR00249-S 9.55 EDN3 FABP2 PDGFRA SNAI2 TYR
7 Decreased viability GR00301-A 9.55 KIT
8 Decreased viability GR00386-A-1 9.55 KITLG OCA2
9 Decreased viability GR00402-S-2 9.55 MC1R MITF PDGFRA

MGI Mouse Phenotypes related to Piebald Trait:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.5 FABP2 KIT KITLG LYST MC1R MITF
2 behavior/neurological MP:0005386 10.49 EDN3 KIT LYST MC1R MITF MYO5A
3 integument MP:0010771 10.48 EDN3 KIT KITLG LYST MC1R MITF
4 growth/size/body region MP:0005378 10.45 FABP2 KIT KITLG LYST MC1R MITF
5 hematopoietic system MP:0005397 10.43 KIT KITLG LYST MC1R MITF MYO5A
6 cellular MP:0005384 10.39 KIT KITLG LYST MC1R MITF OCA2
7 craniofacial MP:0005382 10.38 KIT KITLG LYST MC1R MITF MYO5A
8 immune system MP:0005387 10.38 KIT KITLG LYST MC1R MITF MLPH
9 endocrine/exocrine gland MP:0005379 10.36 KIT KITLG LYST MITF OCA2 PAX3
10 nervous system MP:0003631 10.36 EDN3 KIT KITLG LYST MITF MYO5A
11 pigmentation MP:0001186 10.32 EDN3 KIT KITLG LYST MC1R MITF
12 mortality/aging MP:0010768 10.31 EDN3 KIT KITLG LYST MITF MYO5A
13 hearing/vestibular/ear MP:0005377 10.27 KIT KITLG LYST MC1R MITF MYO5A
14 limbs/digits/tail MP:0005371 10.25 KIT KITLG LYST MC1R MITF MYO5A
15 embryo MP:0005380 10.24 EDN3 KIT KITLG MITF PAX3 PDGFRA
16 digestive/alimentary MP:0005381 10.2 EDN3 KIT KITLG OCA2 PAX3 PDGFRA
17 no phenotypic analysis MP:0003012 10.17 KIT LYST MC1R MITF OCA2 PAX3
18 neoplasm MP:0002006 10.13 KIT KITLG LYST MC1R PAX3 PDGFRA
19 normal MP:0002873 10.06 KIT MITF MYO5A OCA2 PAX3 PDGFRA
20 reproductive system MP:0005389 9.96 KIT KITLG MITF OCA2 PDGFRA RAB27A
21 renal/urinary system MP:0005367 9.92 FABP2 KIT LYST MITF OCA2 PAX3
22 respiratory system MP:0005388 9.76 KIT LYST PAX3 PDGFRA RAB27A RAB27B
23 skeleton MP:0005390 9.65 KIT KITLG MITF OCA2 PAX3 PDGFRA
24 vision/eye MP:0005391 9.44 KIT KITLG LYST MITF MLPH MYO5A

Drugs & Therapeutics for Piebald Trait

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


# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Autologous Punch Grafting in Vitiligo Patients: the Effect of Punchdepth and Punchsize Unknown status NCT01377077 Phase 4
2 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Pilot Study Unknown status NCT01640678 Phase 4
3 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Study on the Recipient Site Preparation Completed NCT02458417 Phase 4
4 A Multicenter Double-blind Placebo-controlled Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Completed NCT02156427 Phase 3

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

Anatomical Context for Piebald Trait

MalaCards organs/tissues related to Piebald Trait:

40
Skin, Eye

Publications for Piebald Trait

Articles related to Piebald Trait:

(show top 50) (show all 239)
# Title Authors PMID Year
1
Deletion of the SLUG (SNAI2) gene results in human piebaldism. 54 57 6 61
12955764 2003
2
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. 61 54 6 57
1384325 1992
3
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. 54 61 6 57
1376329 1992
4
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. 61 6 57 54
1717985 1991
5
Three novel mutations of the proto-oncogene KIT cause human piebaldism. 61 57 6
11074500 2000
6
A novel KIT gene missense mutation in a Japanese family with piebaldism. 57 6 61
9699740 1998
7
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. 61 57 6
1370874 1992
8
Deletion of the c-kit protooncogene in the human developmental defect piebald trait. 57 6 61
1720553 1991
9
Pigmentary correction of piebaldism by autografts. I. Procedures and clinical findings. 61 6 57
338655 1977
10
A novel KIT mutation results in piebaldism with progressive depigmentation. 54 57 61
11174389 2001
11
Piebaldism with deafness: molecular evidence for an expanded syndrome. 57 54 61
9450866 1998
12
Piebaldism: an update. 57 61
15485525 2004
13
Piebaldism: an autonomous autosomal dominant entity. 61 57
1860249 1991
14
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. 61 57
2773996 1989
15
Homozygosity in piebald trait. 61 57
3669051 1987
16
Tentative assignment of piebald trait gene to chromosome band 4q12. 57 61
3733079 1986
17
Piebald trait in a retarded child with interstitial deletion of chromosome 4. 57 61
930930 1977
18
Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. 57 61
4140688 1974
19
An outline, with bibliography, of human piebaldism and white forelock. 61 57
13640782 1959
20
A Bedouin kindred with 19 piebalds in 5 generations. 57
1493647 1992
21
Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W. 57
3200849 1988
22
Piebaldness with Hirschsprung's disease. 57
7425655 1980
23
Pigmentary disorders in association with congenital deafness. 57
6018993 1967
24
Partial albinism. 57
5951847 1966
25
Studies on megacolon in piebald mice. 57
13968171 1962
26
Piebaldness, of familial white skin spotting; partial albinism. 57
13196669 1954
27
Familial white skin spotting (piebaldness) ("partial albinism") with white forelock. 57
14939114 1952
28
A novel KIT missense mutation in one Chinese family with piebaldism. 54 61
19430803 2009
29
KIT and mastocytosis. 54 61
18566536 2008
30
New mutations of KIT gene in two Chinese patients with piebaldism. 54 61
17107413 2006
31
Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation. 61 54
16456533 2006
32
SLUG (SNAI2) overexpression in embryonic development. 54 61
16717446 2006
33
[A novel KIT gene mutation from a family with piebaldism in the southern part of China]. 54 61
16331568 2005
34
[A novel KIT gene mutation results in piebaldism]. 61 54
16220461 2005
35
New KIT mutations in patients with piebaldism. 54 61
15194144 2004
36
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. 54 61
15099345 2004
37
[Mastocytosis or piebaldism--the KIT mutation decides]. 61 54
15055122 2004
38
Human piebaldism: six novel mutations of the proto-oncogene KIT. 54 61
12204004 2002
39
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. 61 54
11041370 2000
40
Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. 61 54
7534102 1995
41
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. 61 54
7529964 1995
42
Molecular basis of human piebaldism. 54 61
7525736 1994
43
Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). 61 54
7518854 1994
44
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. 54 61
7687267 1993
45
Deletion of the KIT and PDGFRA genes in a patient with piebaldism. 54 61
1279971 1992
46
Growth factors and tyrosine protein kinases in normal and malignant melanocytes. 54 61
1873853 1991
47
Repigmentation of White Forelock in a Familial Case of Piebaldism Reported via Teledermatology in the COVID-19 Era. 61
33791342 2021
48
Report of two Japanese patients with piebaldism including a novel mutation in KIT. 61
33155701 2021
49
Donor to recipient ratios in the surgical treatment of vitiligo and piebaldism: a systematic review. 61
33428279 2021
50
Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome? 61
32975012 2020

Variations for Piebald Trait

ClinVar genetic disease variations for Piebald Trait:

6 (show top 50) (show all 146)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNAI2 NG_012130.1:g.(?_5165)_(7623_?)del Deletion Pathogenic 7504 GRCh37: 8:49831366-49833824
GRCh38: 8:48918807-48921265
2 KIT NM_000222.2(KIT):c.1990G>A (p.Gly664Arg) SNV Pathogenic 13843 rs121913679 GRCh37: 4:55594287-55594287
GRCh38: 4:54728121-54728121
3 KIT KIT, DEL Deletion Pathogenic 13844 GRCh37:
GRCh38:
4 KIT NM_000222.2(KIT):c.1925_1926del (p.Lys642fs) Deletion Pathogenic 13847 rs794726672 GRCh37: 4:55594221-55594222
GRCh38: 4:54728055-54728056
5 KIT NM_000222.2(KIT):c.1681dup (p.Glu561fs) Duplication Pathogenic 13848 rs794726673 GRCh37: 4:55593614-55593615
GRCh38: 4:54727448-54727449
6 KIT NM_000222.2(KIT):c.1747G>A (p.Glu583Lys) SNV Pathogenic 13849 rs121913680 GRCh37: 4:55593681-55593681
GRCh38: 4:54727515-54727515
7 KIT NM_000222.2(KIT):c.253del (p.Glu85fs) Deletion Pathogenic 13850 rs794726674 GRCh37: 4:55561862-55561862
GRCh38: 4:54695696-54695696
8 KIT NM_000222.2(KIT):c.1879+1G>A SNV Pathogenic 13851 rs794726675 GRCh37: 4:55594094-55594094
GRCh38: 4:54727928-54727928
9 KIT NM_000222.2(KIT):c.2539A>C (p.Thr847Pro) SNV Pathogenic 13861 rs121913687 GRCh37: 4:55602718-55602718
GRCh38: 4:54736552-54736552
10 KIT NM_000222.2(KIT):c.1751T>G (p.Phe584Cys) SNV Pathogenic 13864 rs28933371 GRCh37: 4:55593685-55593685
GRCh38: 4:54727519-54727519
11 KIT NM_000222.2(KIT):c.1752T>G (p.Phe584Leu) SNV Pathogenic 13845 rs794726671 GRCh37: 4:55593686-55593686
GRCh38: 4:54727520-54727520
12 KIT NM_000222.2(KIT):c.2000T>G (p.Leu667Arg) SNV Likely pathogenic 393590 rs1560419312 GRCh37: 4:55595510-55595510
GRCh38: 4:54729344-54729344
13 KIT NM_000222.2(KIT):c.2848G>A (p.Val950Met) SNV Uncertain significance 409716 rs146374006 GRCh37: 4:55604640-55604640
GRCh38: 4:54738474-54738474
14 KIT NM_000222.3(KIT):c.*2056G>A SNV Uncertain significance 903157 GRCh37: 4:55606779-55606779
GRCh38: 4:54740613-54740613
15 KIT NM_000222.3(KIT):c.2024A>G (p.Tyr675Cys) SNV Uncertain significance 1029723 GRCh37: 4:55595534-55595534
GRCh38: 4:54729368-54729368
16 KIT NM_000222.2(KIT):c.2294A>G (p.Asp765Gly) SNV Uncertain significance 409730 rs1060502545 GRCh37: 4:55598097-55598097
GRCh38: 4:54731931-54731931
17 KIT NM_000222.2(KIT):c.1139C>T (p.Thr380Met) SNV Uncertain significance 409770 rs760981584 GRCh37: 4:55575613-55575613
GRCh38: 4:54709447-54709447
18 KIT NM_000222.2(KIT):c.1674G>A (p.Lys558=) SNV Uncertain significance 220634 rs200375589 GRCh37: 4:55593608-55593608
GRCh38: 4:54727442-54727442
19 KIT NM_000222.2(KIT):c.2484C>T (p.Asn828=) SNV Uncertain significance 237263 rs141347955 GRCh37: 4:55599358-55599358
GRCh38: 4:54733192-54733192
20 KIT NM_000222.2(KIT):c.2562C>G (p.Ser854=) SNV Uncertain significance 528556 rs750039813 GRCh37: 4:55602741-55602741
GRCh38: 4:54736575-54736575
21 KIT NM_000222.3(KIT):c.*37T>C SNV Uncertain significance 902987 GRCh37: 4:55604760-55604760
GRCh38: 4:54738594-54738594
22 KIT NM_000222.3(KIT):c.*530A>G SNV Uncertain significance 902164 GRCh37: 4:55605253-55605253
GRCh38: 4:54739087-54739087
23 KIT NM_000222.3(KIT):c.*575A>G SNV Uncertain significance 903042 GRCh37: 4:55605298-55605298
GRCh38: 4:54739132-54739132
24 KIT NM_000222.3(KIT):c.*1190A>G SNV Uncertain significance 903094 GRCh37: 4:55605913-55605913
GRCh38: 4:54739747-54739747
25 KIT NM_000222.2(KIT):c.464C>T (p.Pro155Leu) SNV Uncertain significance 225286 rs367719489 GRCh37: 4:55564576-55564576
GRCh38: 4:54698410-54698410
26 KIT NM_000222.2(KIT):c.1185C>A (p.Ser395=) SNV Uncertain significance 528635 rs755864184 GRCh37: 4:55575659-55575659
GRCh38: 4:54709493-54709493
27 KIT NM_000222.2(KIT):c.1195G>A (p.Val399Ile) SNV Uncertain significance 134629 rs143707288 GRCh37: 4:55575669-55575669
GRCh38: 4:54709503-54709503
28 KIT NM_000222.2(KIT):c.1264G>A (p.Val422Met) SNV Uncertain significance 576821 rs1560414398 GRCh37: 4:55589782-55589782
GRCh38: 4:54723616-54723616
29 KIT NM_000222.2(KIT):c.1694G>T (p.Gly565Val) SNV Uncertain significance 41600 rs200945282 GRCh37: 4:55593628-55593628
GRCh38: 4:54727462-54727462
30 KIT NM_000222.2(KIT):c.1889A>G (p.His630Arg) SNV Uncertain significance 409727 rs373554876 GRCh37: 4:55594186-55594186
GRCh38: 4:54728020-54728020
31 KIT NM_000222.2(KIT):c.2622G>A (p.Pro874=) SNV Uncertain significance 220917 rs55817813 GRCh37: 4:55602912-55602912
GRCh38: 4:54736746-54736746
32 KIT NM_000222.3(KIT):c.*299G>C SNV Uncertain significance 900491 GRCh37: 4:55605022-55605022
GRCh38: 4:54738856-54738856
33 KIT NM_000222.3(KIT):c.*929G>A SNV Uncertain significance 900542 GRCh37: 4:55605652-55605652
GRCh38: 4:54739486-54739486
34 KIT NM_000222.2(KIT):c.*1059C>T SNV Uncertain significance 348966 rs886059467 GRCh37: 4:55605782-55605782
GRCh38: 4:54739616-54739616
35 KIT NM_000222.2(KIT):c.*1086C>T SNV Uncertain significance 348967 rs533152310 GRCh37: 4:55605809-55605809
GRCh38: 4:54739643-54739643
36 KIT NM_000222.3(KIT):c.*1577T>C SNV Uncertain significance 899466 GRCh37: 4:55606300-55606300
GRCh38: 4:54740134-54740134
37 KIT NM_000222.3(KIT):c.-56A>C SNV Uncertain significance 900130 GRCh37: 4:55524126-55524126
GRCh38: 4:54657959-54657959
38 KIT NM_000222.3(KIT):c.67+12C>T SNV Uncertain significance 901292 GRCh37: 4:55524260-55524260
GRCh38: 4:54658093-54658093
39 KIT NM_000222.3(KIT):c.78A>C (p.Gln26His) SNV Uncertain significance 857769 GRCh37: 4:55561688-55561688
GRCh38: 4:54695522-54695522
40 KIT NM_000222.3(KIT):c.615G>A (p.Arg205=) SNV Uncertain significance 900191 GRCh37: 4:55564727-55564727
GRCh38: 4:54698561-54698561
41 KIT NM_000222.2(KIT):c.821C>T (p.Thr274Met) SNV Uncertain significance 41604 rs138585275 GRCh37: 4:55569954-55569954
GRCh38: 4:54703788-54703788
42 KIT NM_000222.2(KIT):c.878A>G (p.Asn293Ser) SNV Uncertain significance 237285 rs137909416 GRCh37: 4:55570011-55570011
GRCh38: 4:54703845-54703845
43 KIT NM_000222.2(KIT):c.910A>G (p.Thr304Ala) SNV Uncertain significance 41606 rs202052259 GRCh37: 4:55570043-55570043
GRCh38: 4:54703877-54703877
44 KIT NM_000222.2(KIT):c.148G>T (p.Val50Leu) SNV Uncertain significance 409722 rs200950545 GRCh37: 4:55561758-55561758
GRCh38: 4:54695592-54695592
45 KIT NM_000222.2(KIT):c.952A>G (p.Met318Val) SNV Uncertain significance 161260 rs143388949 GRCh37: 4:55573290-55573290
GRCh38: 4:54707124-54707124
46 KIT NM_000222.2(KIT):c.978C>T (p.Asn326=) SNV Uncertain significance 458979 rs148594615 GRCh37: 4:55573316-55573316
GRCh38: 4:54707150-54707150
47 KIT NM_000222.2(KIT):c.1594G>A (p.Val532Ile) SNV Uncertain significance 237248 rs55792975 GRCh37: 4:55593437-55593437
GRCh38: 4:54727271-54727271
48 KIT NM_000222.2(KIT):c.1618G>C (p.Val540Leu) SNV Uncertain significance 409741 rs756179543 GRCh37: 4:55593461-55593461
GRCh38: 4:54727295-54727295
49 KIT NM_000222.2(KIT):c.2263G>A (p.Ala755Thr) SNV Uncertain significance 41601 rs201165084 GRCh37: 4:55598066-55598066
GRCh38: 4:54731900-54731900
50 KIT NM_000222.2(KIT):c.2349C>T (p.Leu783=) SNV Uncertain significance 237260 rs151046591 GRCh37: 4:55598152-55598152
GRCh38: 4:54731986-54731986

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

72
# 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

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:

36
# 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 10.06 UNC13D TYRP1 TYR SOX10 SNAI2 RAB38
2 lysosome GO:0005764 9.77 UNC13D TYR RAB38 RAB27A MYO5A
3 late endosome GO:0005770 9.56 UNC13D RAB27B RAB27A MYO5A
4 melanosome GO:0042470 9.43 TYRP1 TYR RAB38 RAB27B RAB27A MYO5A
5 multivesicular body membrane GO:0032585 9.4 RAB27B RAB27A
6 Weibel-Palade body GO:0033093 9.32 UNC13D RAB27A
7 melanosome membrane GO:0033162 9.02 TYRP1 TYR RAB38 RAB27A OCA2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.08 SNAI2 PDGFRA PAX3 MITF MC1R KIT
2 positive regulation of protein kinase B signaling GO:0051897 9.81 PDGFRA MC1R KITLG KIT
3 positive regulation of MAP kinase activity GO:0043406 9.7 KITLG KIT EDN3
4 neural crest cell migration GO:0001755 9.61 SOX10 KITLG EDN3
5 embryonic hemopoiesis GO:0035162 9.58 KITLG KIT
6 positive regulation of phospholipase C activity GO:0010863 9.57 PDGFRA KIT
7 multivesicular body sorting pathway GO:0071985 9.56 RAB27B RAB27A
8 melanosome transport GO:0032402 9.56 RAB27B RAB27A MYO5A MLPH
9 developmental pigmentation GO:0048066 9.55 OCA2 KIT
10 positive regulation of exocytosis GO:0045921 9.54 UNC13D RAB27B RAB27A
11 melanosome organization GO:0032438 9.5 TYRP1 RAB38 LYST
12 melanocyte differentiation GO:0030318 9.5 TYRP1 SOX10 RAB27A OCA2 MITF KIT
13 natural killer cell degranulation GO:0043320 9.49 UNC13D RAB27A
14 ectopic germ cell programmed cell death GO:0035234 9.48 KITLG KIT
15 positive regulation of regulated secretory pathway GO:1903307 9.46 UNC13D RAB27A
16 melanin biosynthetic process GO:0042438 9.46 TYRP1 TYR OCA2 MC1R
17 eye pigment biosynthetic process GO:0006726 9.4 TYR OCA2
18 pigmentation GO:0043473 9.28 TYRP1 TYR SNAI2 RAB27A OCA2 MITF

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 UNC13D TYRP1 TYR SOX10 SNAI2 RAB38
2 myosin V binding GO:0031489 9.16 RAB27B RAB27A
3 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Piebald Trait

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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