MCID: PBL001
MIFTS: 56

Piebaldism malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories

Aliases & Classifications for Piebaldism

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Piebaldism:

Name: Piebaldism 49 10 11 45 23 47 12 51 65 36 67
Piebald Trait 10 23 67
Pbt 45 23 67
 
Partial Albinism 10 24
Albinoidism, Oculocutaneous, Autosomal Dominant 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 172800
Disease Ontology10 DOID:3263
NCIt42 C85009
MeSH36 D016116
Orphanet51 2884
SNOMED-CT59 6479008
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 D016116
UMLS via Orphanet66 C0080024
MedGen34 C0080024

Summaries for Piebaldism

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NIH Rare Diseases:45 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. last updated: 4/4/2011

MalaCards based summary: Piebaldism, also known as piebald trait, is related to waardenburg syndrome, type 1 and griscelli syndrome, and has symptoms including hypopigmented skin patches, white forelock and hypermelanotic macule. An important gene associated with Piebaldism is SNAI2 (Snail Family Zinc Finger 2), and among its related pathways are Regulation of KIT signaling and Neural Crest Differentiation. Affiliated tissues include skin and eye, and related mouse phenotypes are digestive/alimentary and skeleton.

Genetics Home Reference:23 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:49 Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas... (172800) more...

UniProtKB/Swiss-Prot:67 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Related Diseases for Piebaldism

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

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 130.3MITF, PAX3
2griscelli syndrome10.5
3neurofibromatosis10.4
4neurofibromatosis, type 110.3
5albinism10.3
6piebald trait, kit-related10.3
7gangliocytoma10.3KIT, MITF
8ocular albinism with sensorineural deafness10.3MITF, SNAI2
9liver fibroma10.3KIT, MITF
10extraneural perineurioma10.3KIT, PDGFRA
11medulloepithelioma10.3KIT, PDGFRA
12endothrix infectious disease10.3KIT, MITF
13hypereosinophilic syndrome, idiopathic, resistant to imatinib10.3KIT, PDGFRA
14urinary bladder small cell neuroendocrine carcinoma10.3KIT, PDGFRA
15prostate leiomyosarcoma10.3KIT, PDGFRA
16peroxisomal disease10.3KIT, MITF
17pulmonary venous return anomaly10.3KIT, PDGFRA
18cryptococcosis10.2KIT, PDGFRA
19heart septal defect10.2KIT, PDGFRA
20ovarian melanoma10.2KIT, MITF
21carnitine palmitoyltransferase i deficiency , muscle10.2KIT, PDGFRA
22desmoplastic infantile astrocytoma10.2KIT, PDGFRA
23vitiligo-associated multiple autoimmune disease susceptibility 110.2
24skin conditions10.2
25skin disease10.2
26ocular albinism10.2
27amino acid metabolic disorder10.2
28megacolon10.2
29pigmentation disease10.2
30skin pigmentation disorders10.2
31hypomelanotic disorder10.2
32inborn amino acid metabolism disorder10.2
33piebald trait, snai2-related10.2
34periosteal osteogenic sarcoma10.2KIT, PDGFRA
35mast cell disease10.2KIT, MITF
36mesenchymal chondrosarcoma10.2KIT, PDGFRA
37griscelli syndrome, type 110.2
38griscelli syndrome, type 210.2
39albinism immunodeficiency10.2
40osteogenesis imperfecta - retinopathy - seizures - intellectual disability10.2KIT, PDGFRA
41hypergonadotropic ovarian failure, familial or sporadic10.2KIT, PDGFRA
42cecal benign neoplasm10.2KIT, PDGFRA
43space motion sickness10.2KIT, KITLG
44wheat allergic reaction10.2KIT, KITLG
45anterior corneal pigmentation10.2KIT, KITLG
46oral hairy leukoplakia10.2KIT, PDGFRA
47exencephaly10.2KIT, KITLG
48esophageal neuroendocrine tumor10.2MITF, PAX3
49neurofibromatosis, familial spinal10.2KIT, SPRED1
50albinism-deafness syndrome10.1

Graphical network of the top 20 diseases related to Piebaldism:



Diseases related to piebaldism

Symptoms for Piebaldism

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Symptoms by clinical synopsis from OMIM:

172800

Clinical features from OMIM:

172800

Symptoms:

 51 (show all 20)
  • irregular/patchy skin hypopigmentation
  • decreased hair pigmentation/hypopigmentation of hair
  • white forelock/piebaldism
  • autosomal dominant inheritance
  • anomalies of eyelids, eyelashes and lacrimal system
  • macules
  • irregular/in bands/reticular skin hyperpigmentation
  • microcephaly
  • brachycephaly/flat occiput
  • heterochromia/mixed colouring of iris
  • synophris/synophrys
  • broad nasal root
  • anomalies of mouth, lip and philtrum
  • long philtrum
  • hearing loss/hypoacusia/deafness
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Piebaldism:

(show all 24)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 white forelock hallmark (90%) HP:0002211
3 hypermelanotic macule typical (50%) HP:0001034
4 microcephaly occasional (7.5%) HP:0000252
5 long philtrum occasional (7.5%) HP:0000343
6 hearing impairment occasional (7.5%) HP:0000365
7 wide nasal bridge occasional (7.5%) HP:0000431
8 synophrys occasional (7.5%) HP:0000664
9 heterochromia iridis occasional (7.5%) HP:0001100
10 muscular hypotonia occasional (7.5%) HP:0001252
11 aganglionic megacolon occasional (7.5%) HP:0002251
12 incoordination occasional (7.5%) HP:0002311
13 abnormality of calvarial morphology occasional (7.5%) HP:0002648
14 neoplasm of the skin occasional (7.5%) HP:0008069
15 cognitive impairment occasional (7.5%) HP:0100543
16 autosomal dominant inheritance HP:0000006
17 abnormality of the ear HP:0000598
18 heterochromia iridis HP:0001100
19 white forelock HP:0002211
20 aganglionic megacolon HP:0002251
21 neoplasm HP:0002664
22 partial albinism HP:0007443
23 absent pigmentation of the ventral chest HP:0007542
24 piebaldism HP:0007544

Drugs & Therapeutics for Piebaldism

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tretinoinapproved, investigational, nutraceuticalPhase 4200302-79-45538, 444795, 444795, 5538
Synonyms:
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
.beta.-Retinoic acid
13497-05-7 (hydrochloride salt)
15-Apo-beta-caroten-15-oic acid
187175-63-9
1n4h
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)
302-79-4
5300-03-8
56573-65-0
7005-78-9
9(Z)-Retinoic acid
9-cis-RA
A-Acido (Argentina)
A-Vitaminsyre
A-Vitaminsyre [Denmark]
AC-6824
AC1L9GWO
AC1Q1J2J
AGN 100335
AGN 192013
AKOS000280845
ALRT 1057
AT-RA
ATRA
Aberel
Aberela
Aberela [Norway]
Accutane
Accutane Roche
Acid A Vit (Belgium, Netherlands)
Acid, Retinoic
Acid, Vitamin A
Acid, all-trans-Retinoic
Acid, beta-all-trans-Retinoic
Acid, trans-Retinoic
Acide retinoique (French)
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-(E)-Retinoate
All-(E)-Retinoic acid
All-trans Retinoic Acid
All-trans-Retinoate
All-trans-Retinoic acid
All-trans-Tretinoin
All-trans-Vitamin A acid
All-trans-Vitamin A1 acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita
Avita (TN)
Avita Gel
Avitoin
Avitoin [Norway]
BAL4079
BIDD:GT0483
BIDD:PXR0081
BML2-E05
BPBio1_000082
BRN 2057223
BSPBio_000074
BSPBio_001500
Betarretin
C00777
CCRIS 3294
CCRIS 7098
CHEBI:15367
CHEMBL38
CID444795
CPD000058245
Claravis
Cordes VAS [Germany]
Cordes vas
D00094
D014212
DB00523
DB00755
DB00982
Dermairol
EINECS 206-129-0
EU-0101061
Effederm
Effederm [France]
Epi-aberel
Eudyna
HMS1361K22
HMS1568D16
HMS1791K22
HMS1921D14
HMS1989K22
HMS2089D20
HMS2092N11
HMS502N05
HSDB 2169
HSDB 7186
I04-0008
I14-2351
IDI1_000903
IDI1_033970
Isotretinoin Retinoic acid
L000833
LGD 100057
LMPR01090019
LS-1154
Lopac0_001061
Lsotretinoin
MLS000028588
MLS001076515
MLS002207234
MLS002222211
MolPort-000-883-857
NCGC00017280-06
NCGC00017280-17
 
NCGC00021808-04
NCGC00021808-05
NCGC00021808-06
NCGC00021808-07
NCGC00021808-09
NCGC00021808-14
NCGC00021808-15
NSC 122758
NSC-122758
NSC122758
Nexret
Obagi
PDT-002-002
Panretin Gel
Panretyn
Potassium Salt, Tretinoin
Prestwick2_000257
Prestwick3_000257
Prestwick_424
R 2625
R0064
R2625_SIGMA
REA
RETINOIC ACID, ALL TRANS
RETINOIC acid
Refissa
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retin-a Micro
Retinoate
Retinoic acid
Retinoic acid, all-trans- (8CI)
Retinova
Retionic Acid
Retionic acid
Retisol-A
Retisol-a
Ro 1-5488
S1653_Selleck
SAM002264647
SMR000058245
SPECTRUM1502016
SR-01000000239
SR-01000000239-14
ST057075
Salt, Tretinoin Potassium
Salt, Tretinoin Sodium
Salt, Tretinoin Zinc
Sodium Salt, Tretinoin
Solage
Sotret
Spectrum5_001746
Spectrum5_001933
Stieva-A
Stieva-a
Stieva-a Forte
TRETINON
Tretin M
Tretin m
Tretin-x
Tretin.x
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Cream
Tretinoin Gel Microsphere
Tretinoin Potassium Salt
Tretinoin Sodium Salt
Tretinoin Zinc Salt
Tretinoin [USAN:INN:BAN]
Tretinoin/All-Trans Retinoic Acid
Tretinoina
Tretinoina [INN-Spanish]
Tretinoine
Tretinoine (French)
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tretinx
Tri-Luma
Trétinoïne
UNII-1UA8E65KDZ
UNII-5688UTC01R
UPCMLD-DP097
Vesanoid
Vesanoid (TN)
Vesanoid, Airol, Renova, Atralin, Retin-A, Avita, Tretinoin
Vesnaroid
Vitamin A acid
Vitinoin
WLN: L6UTJ A1 B1U1Y1 & U2U1Y1 & U1VQ C1 C1
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U1VQ C1 C1
Zinc Salt, Tretinoin
[3H]Retinoic acid
all trans-Retinoic acid
all-(E)-Retinoic acid
all-(e)-Retinoic acid
all-trans-Retinoic acid
all-trans-Tretinoin
all-trans-Vitamin A acid
all-trans-Vitamin A1 acid
all-trans-Vitamin a acid
all-trans-Vitamin a1 acid
all-trans-b-Retinoic acid
all-trans-beta-Retinoic acid
b-Retinoic acid
beta all trans Retinoic Acid
beta-Ra
beta-Retinoate
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoate
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)
2
HyaluronanapprovedPhase 33289067-32-7, 9004-61-953477741, 24759
Synonyms:
Hyaluronate
Hyaluronic acid
Hyaluronic acid sodium salt
Hylartil
Hyruan Plus
Luronit
Macronan
 
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sodium hyaluronate
Sofast
Synvisc
3ViscosupplementsPhase 3220

Interventional clinical trials:

idNameStatusNCT IDPhase
1Punchgrafting Techniques for VitiligoRecruitingNCT01377077Phase 4
2Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsActive, not recruitingNCT01640678Phase 4
3Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsEnrolling by invitationNCT02458417Phase 4
4A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism)RecruitingNCT02156427Phase 3
5Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and ActivationRecruitingNCT00852943
6Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic PathwaysRecruitingNCT01164241

Search NIH Clinical Center for Piebaldism


Cochrane evidence based reviews: Piebaldism

Genetic Tests for Piebaldism

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Genetic tests related to Piebaldism:

id Genetic test Affiliating Genes
1 Partial Albinism24

Anatomical Context for Piebaldism

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MalaCards organs/tissues related to Piebaldism:

33
Skin, Eye

Animal Models for Piebaldism or affiliated genes

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MGI Mouse Phenotypes related to Piebaldism:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1KIT, KITLG, PAX3, PDGFRA, SNAI2
2MP:00053908.8KIT, KITLG, MITF, PAX3, PDGFRA, SNAI2
3MP:00053888.7KIT, PAX3, PDGFRA, RAB27A, SPRED1
4MP:00053778.6KIT, KITLG, MITF, MYO5A, PAX3
5MP:00053897.9KIT, KITLG, MITF, PDGFRA, RAB27A, SNAI2
6MP:00053797.9KIT, KITLG, MITF, PAX3, PDGFRA, RAB27A
7MP:00053717.9KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
8MP:00053827.6KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
9MP:00107687.2KIT, KITLG, MITF, MLPH, MYO5A, PAX3
10MP:00053867.2KIT, MITF, MYO5A, PAX3, PDGFRA, RAB27A
11MP:00053917.0KIT, KITLG, MITF, MLPH, MYO5A, PAX3
12MP:00011867.0KIT, KITLG, MITF, MLPH, MYO5A, PAX3
13MP:00053786.9KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
14MP:00036316.7KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
15MP:00107716.6KIT, KITLG, MITF, MLPH, MYO5A, PAX3
16MP:00053976.5KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
17MP:00053876.0KIT, KITLG, MITF, MLPH, MYO5A, PAX3

Publications for Piebaldism

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Articles related to Piebaldism:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
A novel missense KIT mutation causing piebaldism in one Chinese family associated with cafAc-au-lait macules and intertriginous freckling. (25960657)
2015
2
Piebaldism. (25991872)
2015
3
Autologous cell suspension transplantation using a cell extraction device in segmental vitiligo and piebaldism patients: A randomized controlled pilot study. (26089056)
2015
4
Molecular characterization of piebaldism in a Tunisian family. (25910686)
2015
5
Piebaldism with non-intertriginous freckles: what does it mean? (24685861)
2014
6
A novel mutation of KIT gene results in piebaldism in a Chinese family. (25199540)
2014
7
Piebaldism with neurofibromatosis type I: a familial case. (24882989)
2014
8
Association of Piebaldism, multiple cafAc-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
9
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. (24000325)
2013
10
A novel mutation of the KIT gene in a Chinese family with piebaldism. (23786947)
2013
11
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder. (23399981)
2013
12
Molecular characterization of two novel KIT mutations in patients with piebaldism. (22264755)
2012
13
Glycogen storage disease 1a with piebaldism. (22484741)
2012
14
Piebaldism: A brief report and review of the literature. (23130293)
2012
15
Piebaldism. (21918288)
2011
16
Piebaldism in a 2-year-old girl. (21382296)
2011
17
Long-term results of noncultured epidermal cellular grafting in vitiligo, halo naevi, piebaldism and naevus depigmentosus. (20804490)
2010
18
Long term results of non cultured epidermal cellular grafting in vitiligo, halo nevi, piebaldism and nevus depigmentosus. (20560951)
2010
19
Piebaldism and neurofibromatosis type 1: family report. (20137753)
2010
20
A novel KIT missense mutation in one Chinese family with piebaldism. (19430803)
2009
21
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. (17124503)
2007
22
New mutations of KIT gene in two Chinese patients with piebaldism. (17107413)
2006
23
A novel KIT gene mutation from a family with piebaldism in the southern part of China]. (16331568)
2005
24
Piebaldism: an update. (15485525)
2004
25
Mastocytosis or piebaldism--the KIT mutation decides]. (15055122)
2004
26
Deletion of the SLUG (SNAI2) gene results in human piebaldism. (12955764)
2003
27
Piebaldism in diamond-blackfan anaemia: a new phenotype? (12406103)
2002
28
Human piebaldism: six novel mutations of the proto-oncogene KIT. (12204004)
2002
29
De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation. (12407711)
2002
30
A novel KIT gene missense mutation in a Japanese family with piebaldism. (9699740)
1998
31
Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. (9892949)
1998
32
Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. (9853966)
1998
33
A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism. (8680409)
1995
34
Surgical combination therapy for vitiligo and piebaldism. (7551740)
1995
35
Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. (7534102)
1995
36
The molecular genetics of albinism and piebaldism. (8129415)
1994
37
Molecular basis of human piebaldism. (7525736)
1994
38
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. (8001159)
1994
39
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (7687267)
1993
40
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (1370874)
1992
41
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. (1384325)
1992
42
Deletion of the KIT and PDGFRA genes in a patient with piebaldism. (1279971)
1992
43
Piebaldism: an autonomous autosomal dominant entity. (1860249)
1991
44
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. (1717985)
1991
45
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
46
Brown-SAcquard syndrome and piebaldism. (6950113)
1982
47
Pigmentary correction of piebaldism by autografts. II. Pathomechanism and pigment spread in piebaldism. (383410)
1979
48
Piebaldism. (1276057)
1976
49
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975
50
Aganglionic megacolon in piebald-lethal mice. (4129273)
1974

Variations for Piebaldism

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UniProtKB/Swiss-Prot genetic disease variations for Piebaldism:

67
id Symbol AA change Variation ID SNP ID
1KITp.Glu583LysVAR_004104
2KITp.Phe584LeuVAR_004105
3KITp.Gly664ArgVAR_004106
4KITp.Arg791GlyVAR_004107
5KITp.Gly812ValVAR_004108
6KITp.Phe584CysVAR_033129rs28933371
7KITp.Gly601ArgVAR_033130
8KITp.Leu656ProVAR_033131
9KITp.Arg796GlyVAR_033132
10KITp.Thr847ProVAR_033137

Clinvar genetic disease variations for Piebaldism:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1KITNM_000222.2(KIT): c.1990G> A (p.Gly664Arg)single nucleotide variantPathogenicrs121913679GRCh37Chr 4, 55594287: 55594287
2KITKIT, DELdeletionPathogenic
3KITNM_000222.2(KIT): c.1752T> G (p.Phe584Leu)single nucleotide variantPathogenicrs794726671GRCh37Chr 4, 55593686: 55593686
4KITNM_000222.2(KIT): c.1925_1926delAA (p.Lys642Serfs)deletionPathogenicrs794726672GRCh37Chr 4, 55594222: 55594223
5KITNM_000222.2(KIT): c.1681dupG (p.Glu561Glyfs)duplicationPathogenicrs794726673GRCh37Chr 4, 55593615: 55593615
6KITNM_000222.2(KIT): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs121913680GRCh37Chr 4, 55593681: 55593681
7KITNM_000222.2(KIT): c.253delG (p.Glu85Lysfs)deletionPathogenicrs794726674GRCh37Chr 4, 55561863: 55561863
8KITNM_000222.2(KIT): c.1879+1G> Asingle nucleotide variantPathogenicrs794726675GRCh37Chr 4, 55594094: 55594094
9KITNM_000222.2(KIT): c.2539A> C (p.Thr847Pro)single nucleotide variantPathogenicrs121913687GRCh37Chr 4, 55602718: 55602718
10KITNM_000222.2(KIT): c.1751T> G (p.Phe584Cys)single nucleotide variantPathogenicrs28933371GRCh37Chr 4, 55593685: 55593685
11SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenicGRCh37Chr 8, 49831366: 49833824

Expression for genes affiliated with Piebaldism

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Search GEO for disease gene expression data for Piebaldism.

Pathways for genes affiliated with Piebaldism

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GO Terms for genes affiliated with Piebaldism

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Biological processes related to Piebaldism according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:001086310.5KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.4KIT, PDGFRA
3embryonic hemopoiesisGO:003516210.4KIT, KITLG
4ectopic germ cell programmed cell deathGO:003523410.3KIT, KITLG
5ovarian follicle developmentGO:000154110.2KIT, KITLG
6positive regulation of DNA replicationGO:004574010.1KITLG, PDGFRA
7response to radiationGO:000931410.1KIT, SNAI2
8positive regulation of cell migrationGO:003033510.0KIT, PDGFRA, SNAI2
9phosphatidylinositol-mediated signalingGO:00480159.9KIT, KITLG, PDGFRA
10melanosome localizationGO:00324009.8MYO5A, RAB27A
11melanosome transportGO:00324029.7MYO5A, RAB27A
12pigmentationGO:00434739.6KIT, MITF, RAB27A, SNAI2
13developmental pigmentationGO:00480669.6KIT, MYO5A, PAX3
14MAPK cascadeGO:00001659.3KIT, KITLG, PDGFRA, SPRED1
15activation of MAPKK activityGO:00001869.3KIT, KITLG, PDGFRA, SPRED1
16Ras protein signal transductionGO:00072659.3KIT, KITLG, PDGFRA, SPRED1
17insulin receptor signaling pathwayGO:00082869.3KIT, KITLG, PDGFRA, SPRED1
18fibroblast growth factor receptor signaling pathwayGO:00085439.3KIT, KITLG, PDGFRA, SPRED1
19Fc-epsilon receptor signaling pathwayGO:00380959.3KIT, KITLG, PDGFRA, SPRED1
20neurotrophin TRK receptor signaling pathwayGO:00480119.2KIT, KITLG, PDGFRA, SPRED1
21melanocyte differentiationGO:00303189.1KIT, MITF, MYO5A, RAB27A
22epidermal growth factor receptor signaling pathwayGO:00071739.0KIT, KITLG, PDGFRA, SPRED1
23positive regulation of cell proliferationGO:00082848.9CLEC11A, KIT, KITLG, PAX3, PDGFRA
24axon guidanceGO:00074118.9KIT, KITLG, PDGFRA, SPRED1
25vascular endothelial growth factor receptor signaling pathwayGO:00480108.7KIT, KITLG, PDGFRA, SPRED1
26small GTPase mediated signal transductionGO:00072648.4KIT, KITLG, PDGFRA, RAB27A, SPRED1

Molecular functions related to Piebaldism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1stem cell factor receptor bindingGO:00051739.9KITLG, SPRED1
2transmembrane receptor protein tyrosine kinase activityGO:00047149.8KIT, PDGFRA
3transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.5MITF, PAX3, SNAI2

Sources for Piebaldism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet