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 56 12 25 73 39
Piebaldism 56 12 74 52 25 58 73 36 13 54 6 43 15 71
Pbt 56 52 25 73
Partial Albinism 12 29 6
Albinoidism, Oculocutaneous, Autosomal Dominant 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 172800
KEGG 36 H00170
MeSH 43 D016116
NCIt 49 C85009
SNOMED-CT 67 6479008
ICD10 32 E70.39
MESH via Orphanet 44 D016116
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C0080024
Orphanet 58 ORPHA2884
MedGen 41 C0080024
UMLS 71 C0080024 C1876214

Summaries for Piebald Trait

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. 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 2 and griscelli syndrome, type 1. 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

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Wikipedia : 74 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 182)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 2 33.4 UNC13D RAB27A MYO5A MLPH LYST
2 griscelli syndrome, type 1 33.1 RAB27A MYO5A MLPH LYST
3 griscelli syndrome 32.8 UNC13D RAB38 RAB27B RAB27A MYO5A MLPH
4 megacolon 31.3 SOX10 PAX3 KIT EDN3
5 vitiligo-associated multiple autoimmune disease susceptibility 1 30.9 TYRP1 MITF MC1R KITLG
6 neurofibromatosis, type i 30.5 PDGFRA KIT
7 dowling-degos disease 1 30.5 TYRP1 MITF KITLG KIT
8 mastocytosis 30.4 PDGFRA MITF KITLG KIT
9 chediak-higashi syndrome 30.3 UNC13D TYRP1 RAB27A LYST
10 hirschsprung disease 1 30.3 SOX10 SNAI2 PAX3 MITF KIT EDN3
11 waardenburg syndrome, type 4a 30.3 SOX10 PAX3 MITF EDN3
12 albinism 30.2 TYRP1 OCA2 MITF MC1R
13 ocular albinism 30.2 TYRP1 OCA2 MITF
14 neurofibroma 30.1 SOX10 PDGFRA MITF KITLG KIT
15 waardenburg syndrome, type 1 30.1 SOX10 SNAI2 PAX3 MITF EDN3
16 albinism, oculocutaneous, type ii 30.0 TYRP1 OCA2 MC1R
17 oculocutaneous albinism 29.9 TYRP1 RAB38 OCA2 MITF MC1R
18 waardenburg's syndrome 29.5 TYRP1 SOX10 SNAI2 PAX3 MITF KITLG
19 microphthalmia 29.5 TYRP1 SOX10 RAB27A PAX3 MYO5A MITF
20 tietz albinism-deafness syndrome 29.4 TYRP1 SOX10 PAX3 OCA2 MITF KITLG
21 piebald trait with neurologic defects 12.8
22 albinism-deafness syndrome 11.7
23 immunodeficiency due to defect in mapbp-interacting protein 11.2
24 reticular perineurioma 10.6 PDGFRA KIT
25 deep leiomyoma 10.6 PDGFRA KIT
26 heart leiomyosarcoma 10.5 PDGFRA KIT
27 extracutaneous mastocytoma 10.5 KITLG KIT
28 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
29 small intestine leiomyoma 10.5 PDGFRA KIT
30 prostate embryonal rhabdomyosarcoma 10.5 PAX3 KIT
31 gastric leiomyoma 10.5 PDGFRA KIT
32 pulmonary vein stenosis 10.5 PDGFRA KIT
33 cutaneous ganglioneuroma 10.5 MITF KIT
34 gastric leiomyosarcoma 10.5 PDGFRA KIT
35 hypereosinophilic syndrome, idiopathic 10.5 PDGFRA KIT
36 mast-cell sarcoma 10.5 KITLG KIT
37 endometrial small cell carcinoma 10.5 PDGFRA KIT
38 plexiform schwannoma 10.5 SOX10 KIT
39 neurofibromatosis, type iv, of riccardi 10.5
40 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.5 PDGFRA KIT
41 primary hemophagocytic lymphohistiocytosis 10.5 UNC13D RAB27A
42 dysgerminoma of ovary 10.5 KITLG KIT
43 ocular albinism with congenital sensorineural deafness 10.5 PAX3 MITF
44 fibrosarcoma of bone 10.5 PDGFRA KIT
45 conventional fibrosarcoma 10.5 PDGFRA PAX3 KIT
46 sm-ahnmd 10.5 PDGFRA KITLG KIT
47 cochlear disease 10.5 SOX10 EDN3
48 malignant choroid melanoma 10.4 SOX10 MITF
49 griscelli syndrome, type 3 10.4 RAB27A MYO5A MLPH
50 cutaneous solitary mastocytoma 10.4 KITLG KIT CLEC11A

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 23)
# 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 macule 58 31 frequent (33%) Frequent (79-30%) HP:0012733
4 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
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 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
10 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
11 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
12 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
13 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
14 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
15 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
16 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
17 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
18 abnormality of calvarial morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002648
19 neoplasm 31 HP:0002664
20 hypopigmentation of hair 58 Very frequent (99-80%)
21 partial albinism 31 HP:0007443
22 abnormality of the ear 31 HP:0000598
23 absent pigmentation of the ventral chest 31 HP:0007542

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 CLEC11A FABP2 KIT KITLG LYST MITF
2 behavior/neurological MP:0005386 10.45 EDN3 KIT LYST MC1R MITF MYO5A
3 hematopoietic system MP:0005397 10.45 CLEC11A KIT KITLG LYST MC1R MITF
4 integument MP:0010771 10.44 EDN3 KIT KITLG LYST MC1R MITF
5 growth/size/body region MP:0005378 10.41 FABP2 KIT KITLG LYST MC1R MITF
6 cellular MP:0005384 10.38 CLEC11A KIT KITLG LYST MC1R MITF
7 immune system MP:0005387 10.34 KIT KITLG LYST MC1R MITF MLPH
8 craniofacial MP:0005382 10.33 KIT KITLG LYST MC1R MITF MYO5A
9 endocrine/exocrine gland MP:0005379 10.32 KIT KITLG LYST MITF OCA2 PAX3
10 nervous system MP:0003631 10.3 EDN3 KIT KITLG LYST MITF MYO5A
11 pigmentation MP:0001186 10.3 EDN3 KIT KITLG LYST MC1R MITF
12 limbs/digits/tail MP:0005371 10.24 CLEC11A KIT KITLG LYST MC1R MITF
13 hearing/vestibular/ear MP:0005377 10.21 KIT KITLG LYST MC1R MITF MYO5A
14 digestive/alimentary MP:0005381 10.19 EDN3 KIT KITLG OCA2 PAX3 PDGFRA
15 no phenotypic analysis MP:0003012 10.13 KIT LYST MC1R MITF OCA2 PAX3
16 neoplasm MP:0002006 10.08 KIT KITLG LYST MC1R PAX3 PDGFRA
17 normal MP:0002873 10.01 KIT MITF MYO5A OCA2 PAX3 PDGFRA
18 reproductive system MP:0005389 9.91 KIT KITLG MITF OCA2 PDGFRA RAB27A
19 renal/urinary system MP:0005367 9.87 FABP2 KIT LYST MITF OCA2 PAX3
20 respiratory system MP:0005388 9.76 KIT LYST PAX3 PDGFRA RAB27A RAB27B
21 skeleton MP:0005390 9.65 CLEC11A KIT KITLG MITF OCA2 PAX3
22 vision/eye MP:0005391 9.4 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 Adjuvants, Immunologic Phase 3
5 Protective Agents Phase 3
6 Immunologic Factors 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: a Randomized Controlled Pilot Study Unknown status NCT01640678 Phase 4
2 Autologous Punch Grafting in Vitiligo Patients: the Effect of Punchdepth and Punchsize Unknown status NCT01377077 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
5 Screening Protocol for Genetic Diseases of Allergic Inflammation Recruiting NCT00852943
6 The Role of Dermoscopy in Diagnosis of Pigmentary Skin Lesions Not yet recruiting NCT03542539
7 Autologous Cell Suspension Grafting Using ReNovaCell in Non-segmental Vitiligo Patients: a Randomized Controlled Study Terminated NCT03022019

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, Bone, Heart, Small Intestine, Kidney, Ovary

Publications for Piebald Trait

Articles related to Piebald Trait:

(show top 50) (show all 230)
# Title Authors PMID Year
1
Deletion of the SLUG (SNAI2) gene results in human piebaldism. 54 61 56 6
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. 54 61 56 6
1384325 1992
3
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. 54 61 56 6
1376329 1992
4
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. 54 61 56 6
1717985 1991
5
Three novel mutations of the proto-oncogene KIT cause human piebaldism. 61 56 6
11074500 2000
6
A novel KIT gene missense mutation in a Japanese family with piebaldism. 61 56 6
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 56 6
1370874 1992
8
Deletion of the c-kit protooncogene in the human developmental defect piebald trait. 61 56 6
1720553 1991
9
Pigmentary correction of piebaldism by autografts. I. Procedures and clinical findings. 61 56 6
338655 1977
10
A novel KIT mutation results in piebaldism with progressive depigmentation. 54 61 56
11174389 2001
11
Piebaldism with deafness: molecular evidence for an expanded syndrome. 54 61 56
9450866 1998
12
Piebaldism: an update. 61 56
15485525 2004
13
Piebaldism: an autonomous autosomal dominant entity. 61 56
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 56
2773996 1989
15
Homozygosity in piebald trait. 61 56
3669051 1987
16
Tentative assignment of piebald trait gene to chromosome band 4q12. 61 56
3733079 1986
17
Piebald trait in a retarded child with interstitial deletion of chromosome 4. 61 56
930930 1977
18
Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. 61 56
4140688 1974
19
An outline, with bibliography, of human piebaldism and white forelock. 61 56
13640782 1959
20
A Bedouin kindred with 19 piebalds in 5 generations. 56
1493647 1992
21
Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W. 56
3200849 1988
22
Piebaldness with Hirschsprung's disease. 56
7425655 1980
23
Pigmentary disorders in association with congenital deafness. 56
6018993 1967
24
Partial albinism. 56
5951847 1966
25
Studies on megacolon in piebald mice. 56
13968171 1962
26
Piebaldness, of familial white skin spotting; partial albinism. 56
13196669 1954
27
Familial white skin spotting (piebaldness) ("partial albinism") with white forelock. 56
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. 54 61
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]. 54 61
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]. 54 61
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. 54 61
11041370 2000
40
Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. 54 61
7534102 1995
41
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. 54 61
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). 54 61
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
Identification of kit-ligand a as the Gene Responsible for the Medaka Pigment Cell Mutant few melanophore. 61
31757930 2020
48
First record of atypical pigmentation pattern in fin whale Balaenoptera physalus in the Atlantic Ocean. 61
31392964 2019
49
Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development. 61
30983016 2019
50
A novel KIT mutation in a family with expanded syndrome of piebaldism. 61
31341943 2019

Variations for Piebald Trait

ClinVar genetic disease variations for Piebald Trait:

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNAI2 NG_012130.1:g.(?_5165)_(7623_?)deldeletion Pathogenic 7503 8:49831366-49833824 8:48918807-48921265
2 SNAI2 NG_012130.1:g.(?_5165)_(7623_?)deldeletion Pathogenic 7504 8:49831366-49833824 8:48918807-48921265
3 KIT NM_000222.2(KIT):c.1990G>A (p.Gly664Arg)SNV Pathogenic 13843 rs121913679 4:55594287-55594287 4:54728121-54728121
4 KIT KIT, DELdeletion Pathogenic 13844
5 KIT NM_000222.2(KIT):c.1752T>G (p.Phe584Leu)SNV Pathogenic 13845 rs794726671 4:55593686-55593686 4:54727520-54727520
6 KIT NM_000222.2(KIT):c.1925_1926del (p.Lys642fs)deletion Pathogenic 13847 rs794726672 4:55594221-55594222 4:54728055-54728056
7 KIT NM_000222.2(KIT):c.1681dup (p.Glu561fs)duplication Pathogenic 13848 rs794726673 4:55593614-55593615 4:54727448-54727449
8 KIT NM_000222.2(KIT):c.1747G>A (p.Glu583Lys)SNV Pathogenic 13849 rs121913680 4:55593681-55593681 4:54727515-54727515
9 KIT NM_000222.2(KIT):c.253del (p.Glu85fs)deletion Pathogenic 13850 rs794726674 4:55561862-55561862 4:54695696-54695696
10 KIT NM_000222.2(KIT):c.1879+1G>ASNV Pathogenic 13851 rs794726675 4:55594094-55594094 4:54727928-54727928
11 KIT NM_000222.2(KIT):c.2539A>C (p.Thr847Pro)SNV Pathogenic 13861 rs121913687 4:55602718-55602718 4:54736552-54736552
12 KIT NM_000222.2(KIT):c.1751T>G (p.Phe584Cys)SNV Pathogenic 13864 rs28933371 4:55593685-55593685 4:54727519-54727519
13 KIT NM_000222.2(KIT):c.2000T>G (p.Leu667Arg)SNV Likely pathogenic 393590 rs1560419312 4:55595510-55595510 4:54729344-54729344
14 SNAI2 NM_003068.5(SNAI2):c.606A>G (p.Gly202=)SNV Conflicting interpretations of pathogenicity 363264 rs370952195 8:49832474-49832474 8:48919915-48919915
15 KIT NM_000222.2(KIT):c.532G>A (p.Ala178Thr)SNV Conflicting interpretations of pathogenicity 161259 rs115585711 4:55564644-55564644 4:54698478-54698478
16 KIT NM_000222.2(KIT):c.952A>G (p.Met318Val)SNV Conflicting interpretations of pathogenicity 161260 rs143388949 4:55573290-55573290 4:54707124-54707124
17 KIT NM_000222.2(KIT):c.200C>G (p.Thr67Ser)SNV Conflicting interpretations of pathogenicity 237252 rs144933028 4:55561810-55561810 4:54695644-54695644
18 KIT NM_000222.2(KIT):c.2670C>T (p.Leu890=)SNV Conflicting interpretations of pathogenicity 237268 rs745967881 4:55602960-55602960 4:54736794-54736794
19 KIT NM_000222.2(KIT):c.2802+9A>GSNV Conflicting interpretations of pathogenicity 237270 rs369450271 4:55603455-55603455 4:54737289-54737289
20 KIT NM_000222.2(KIT):c.-14T>ASNV Conflicting interpretations of pathogenicity 255567 rs140909964 4:55524168-55524168 4:54658001-54658001
21 KIT NM_000222.2(KIT):c.2923G>C (p.Asp975His)SNV Uncertain significance 348956 rs373152714 4:55604715-55604715 4:54738549-54738549
22 KIT NM_000222.2(KIT):c.*368C>TSNV Uncertain significance 348962 rs886059465 4:55605091-55605091 4:54738925-54738925
23 KIT NM_000222.2(KIT):c.*597C>TSNV Uncertain significance 348964 rs746982052 4:55605320-55605320 4:54739154-54739154
24 KIT NM_000222.2(KIT):c.*1059C>TSNV Uncertain significance 348966 rs886059467 4:55605782-55605782 4:54739616-54739616
25 KIT NM_000222.2(KIT):c.*1101A>GSNV Uncertain significance 348968 rs886059468 4:55605824-55605824 4:54739658-54739658
26 KIT NM_000222.2(KIT):c.*252G>TSNV Uncertain significance 348960 rs376694515 4:55604975-55604975 4:54738809-54738809
27 KIT NM_000222.2(KIT):c.*352A>GSNV Uncertain significance 348961 rs149336515 4:55605075-55605075 4:54738909-54738909
28 KIT NM_000222.2(KIT):c.*1791G>ASNV Uncertain significance 348973 rs77842054 4:55606514-55606514 4:54740348-54740348
29 KIT NM_000222.2(KIT):c.301C>T (p.His101Tyr)SNV Uncertain significance 348954 rs781130745 4:55561911-55561911 4:54695745-54695745
30 KIT NM_000222.2(KIT):c.*198A>GSNV Uncertain significance 348958 rs886059464 4:55604921-55604921 4:54738755-54738755
31 KIT NM_000222.2(KIT):c.*1086C>TSNV Uncertain significance 348967 rs533152310 4:55605809-55605809 4:54739643-54739643
32 KIT NM_000222.2(KIT):c.*1487_*1490deldeletion Uncertain significance 348970 rs374796688 4:55606208-55606211 4:54740042-54740045
33 KIT NM_000222.2(KIT):c.*1808A>GSNV Uncertain significance 348974 rs762662037 4:55606531-55606531 4:54740365-54740365
34 KIT NM_000222.2(KIT):c.*393A>GSNV Uncertain significance 348963 rs886059466 4:55605116-55605116 4:54738950-54738950
35 KIT NM_000222.2(KIT):c.*790A>GSNV Uncertain significance 348965 rs189995563 4:55605513-55605513 4:54739347-54739347
36 KIT NM_000222.2(KIT):c.2881G>A (p.Gly961Ser)SNV Uncertain significance 237271 rs773828910 4:55604673-55604673 4:54738507-54738507
37 KIT NM_000222.2(KIT):c.1274T>A (p.Met425Lys)SNV Uncertain significance 237238 rs878853760 4:55589792-55589792 4:54723626-54723626
38 KIT NM_000222.2(KIT):c.1553C>T (p.Pro518Leu)SNV Uncertain significance 237245 rs569408054 4:55593396-55593396 4:54727230-54727230
39 SNAI2 NM_003068.5(SNAI2):c.219C>T (p.Leu73=)SNV Uncertain significance 363266 rs189890133 8:49832861-49832861 8:48920302-48920302
40 SNAI2 NM_003068.5(SNAI2):c.-9G>TSNV Uncertain significance 363268 rs201920149 8:49833833-49833833 8:48921274-48921274
41 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dncomplex Uncertain significance 267835
42 KIT NM_000222.2(KIT):c.2104C>G (p.Leu702Val)SNV Uncertain significance 409779 rs768847037 4:55595614-55595614 4:54729448-54729448
43 KIT NM_000222.2(KIT):c.2294A>G (p.Asp765Gly)SNV Uncertain significance 409730 rs1060502545 4:55598097-55598097 4:54731931-54731931
44 KIT NM_000222.2(KIT):c.2863G>T (p.Val955Leu)SNV Uncertain significance 409783 rs1060502568 4:55604655-55604655 4:54738489-54738489
45 KIT NM_000222.2(KIT):c.2887A>G (p.Thr963Ala)SNV Uncertain significance 409774 rs773709702 4:55604679-55604679 4:54738513-54738513
46 KIT NM_000222.2(KIT):c.2900C>G (p.Ser967Cys)SNV Uncertain significance 458936 rs1232060384 4:55604692-55604692 4:54738526-54738526
47 KIT NM_000222.2(KIT):c.302A>G (p.His101Arg)SNV Uncertain significance 458940 rs1274601103 4:55561912-55561912 4:54695746-54695746
48 KIT NM_000222.2(KIT):c.2057G>A (p.Arg686His)SNV Uncertain significance 458902 rs143772138 4:55595567-55595567 4:54729401-54729401
49 KIT NM_000222.2(KIT):c.2836C>T (p.Arg946Ter)SNV Uncertain significance 576610 rs139000082 4:55604628-55604628 4:54738462-54738462
50 SNAI2 NM_003068.5(SNAI2):c.*334T>GSNV Uncertain significance 363260 rs577991090 8:49831032-49831032 8:48918473-48918473

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

73
# 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 10.21 UNC13D TYRP1 SOX10 SNAI2 RAB38 PDGFRA
2 cell GO:0005623 9.87 RAB38 RAB27B RAB27A PDGFRA MYO5A MLPH
3 secretory granule GO:0030141 9.61 RAB27B RAB27A MYO5A
4 late endosome GO:0005770 9.46 UNC13D RAB27B RAB27A MYO5A
5 multivesicular body membrane GO:0032585 9.4 RAB27B RAB27A
6 melanosome GO:0042470 9.35 TYRP1 RAB38 RAB27B RAB27A MYO5A
7 Weibel-Palade body GO:0033093 9.26 UNC13D RAB27A
8 melanosome membrane GO:0033162 8.92 TYRP1 RAB38 RAB27A OCA2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.97 PDGFRA KITLG KIT EDN3 CLEC11A
2 positive regulation of protein kinase B signaling GO:0051897 9.78 PDGFRA MC1R KITLG KIT
3 Rab protein signal transduction GO:0032482 9.72 RAB38 RAB27B RAB27A
4 positive regulation of MAP kinase activity GO:0043406 9.71 KITLG KIT EDN3
5 neural crest cell migration GO:0001755 9.61 SOX10 KITLG EDN3
6 melanosome organization GO:0032438 9.59 TYRP1 LYST
7 embryonic hemopoiesis GO:0035162 9.58 KITLG KIT
8 positive regulation of phospholipase C activity GO:0010863 9.57 PDGFRA KIT
9 multivesicular body sorting pathway GO:0071985 9.56 RAB27B RAB27A
10 melanosome transport GO:0032402 9.56 RAB27B RAB27A MYO5A MLPH
11 melanocyte differentiation GO:0030318 9.56 TYRP1 SOX10 RAB27A OCA2 MYO5A MITF
12 positive regulation of exocytosis GO:0045921 9.54 UNC13D RAB27B RAB27A
13 ectopic germ cell programmed cell death GO:0035234 9.52 KITLG KIT
14 natural killer cell degranulation GO:0043320 9.51 UNC13D RAB27A
15 developmental pigmentation GO:0048066 9.5 OCA2 MYO5A KIT
16 melanosome localization GO:0032400 9.49 RAB27A MYO5A
17 positive regulation of regulated secretory pathway GO:1903307 9.46 UNC13D RAB27A
18 melanin biosynthetic process GO:0042438 9.46 TYRP1 OCA2 MYO5A MC1R
19 melanin metabolic process GO:0006582 9.4 TYRP1 MYO5A
20 pigmentation GO:0043473 9.28 TYRP1 SNAI2 RAB27A OCA2 MYO5A 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 9.58 UNC13D TYRP1 SOX10 SNAI2 RAB38 RAB27B
2 myosin V binding GO:0031489 8.96 RAB27B RAB27A

Sources for Piebald Trait

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....