Piebaldism malady

NIH Rare Diseases: 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.³⁰

MalaCards: Piebaldism, also known as albinoidism, oculocutaneous, autosomal dominant, is related to neurofibromatosis and mastocytosis. An important gene associated with Piebaldism is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Innate Immune System and Melanocyte Development and Pigmentation. The compounds monochloroacetic acid and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Wikipedia: Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics...⁴⁴ more...

Aliases & Descriptions:

piebaldism 6 7 30 33 8 32 43 albinoidism, oculocutaneous, autosomal dominant 43 partial albinism (disorder) 6

piebald trait 6 pbt 30

Diseases related to piebaldism by text searches and GeneDecks gene sharing:

(show top 50)    (show all 101)

id	Related Disease	Score	Top Affiliating Genes
1	neurofibromatosis	27.8	KITLG, KIT, PDGFRA
2	mastocytosis	27.3	PDGFRA, MITF, KITLG, KIT
3	vitiligo	26.7	PDGFRA, MITF, KITLG, CLEC11A, KIT
4	leukemia	24.3	EDNRB, PDGFRA, KITLG, TEK, KIT, MITF
5	pigmentation disease	13.4	KIT, MITF
6	pigment disorder	13.4	KIT, MITF
7	griscelli syndrome type 2	13.4	RAB27A, MLPH
8	griscelli syndrome type 3	13.4	MLPH, MYO5A
9	gastrointestinal stromal tumor, somatic	13.4	KIT, PDGFRA
10	kidney clear cell sarcoma	13.4	MITF, KIT
11	indolent systemic mastocytosis	13.3	KITLG, KIT
12	fibrosarcoma of bone	13.3	PDGFRA, KIT
13	hypereosinophilic syndrome	13.3	PDGFRA, KIT
14	aggressive systemic mastocytosis	13.3	KITLG, KIT
15	carney triad	13.3	PDGFRA, KIT
16	urticaria pigmentosa	13.3	KIT, KITLG
17	mast-cell sarcoma	13.3	KITLG, KIT
18	cutaneous mastocytosis	13.3	KIT, KITLG
19	endometrial stromal sarcoma	13.3	KIT, PDGFRA
20	sarcomatoid renal cell carcinoma	13.2	KIT, PDGFRA
21	chondroma	13.2	PDGFRA, KIT
22	mast-cell leukemia	13.2	KIT, KITLG
23	pendred syndrome	13.2	MITF, PAX3
24	griscelli syndrome	13.1	MYO5A, RAB27A, MLPH
25	hemophagocytic lymphohistiocytosis	13.1	RAB27A, MYO5A, MLPH
26	mast cell neoplasm	13.1	KIT, KITLG
27	perineurioma	13.1	KIT, PDGFRA
28	neurilemmoma	13.0	KIT, MITF, PDGFRA
29	hyperpigmentation of eyelid	13.0	MITF, KITLG, KIT
30	perivascular epithelioid cell tumor	13.0	KIT, KITLG, MITF
31	shah-waardenburg syndrome	13.0	EDNRB, MITF
32	malignant peripheral nerve sheath tumor	13.0	KIT, MITF, PDGFRA
33	melanoma metastasis	13.0	KIT, MITF, KITLG
34	chronic myelomonocytic leukemia	13.0	PDGFRA, KITLG, KIT
35	gliosarcoma	13.0	PDGFRA, KITLG, KIT
36	nephroblastoma	13.0	PAX3, KIT, PDGFRA
37	sm-ahnmd	13.0	PDGFRA, KITLG, KIT
38	adenosquamous carcinoma	13.0	PDGFRA, KIT, KITLG
39	essential thrombocythemia	12.9	KIT, KITLG
40	neural tube defect	12.9	SNAI2, PAX3, PDGFRA
41	carney complex	12.9	KIT, MITF, HPS1
42	leiomyosarcoma	12.9	SNAI2, KIT, PDGFRA
43	merkel cell carcinoma	12.9	PDGFRA, KITLG, KIT
44	cutaneous malignant melanoma	12.9	PAX3, MITF, KIT
45	polycythemia vera	12.9	KITLG, PDGFRA, KIT
46	myelofibrosis	12.9	KIT, KITLG, PDGFRA
47	cerebral primitive neuroectodermal tumor	12.8	KITLG, PDGFRA, KIT
48	nevus	12.8	KIT, MITF, HPS1
49	myelodysplastic syndrome	12.8	KIT, PDGFRA, KITLG
50	pediatric cns embryonal cell carcinoma	12.8	PDGFRA, KITLG, KIT

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to piebaldism:

²²

MGI Mouse Phenotypes related to piebaldism:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	8.5	EDNRB, SNAI2, MITF, PAX3, KITLG, KIT
2	endocrine/exocrine gland phenotype	MP:0005379	8.5	PDGFRA, SNAI2, MITF, PAX3, RAB27A, KITLG
3	digestive/alimentary phenotype	MP:0005381	8.4	EDNRB, PDGFRA, SNAI2, PAX3, KITLG, KIT
4	reproductive system phenotype	MP:0005389	8.4	PDGFRA, SNAI2, MITF, PAX3, RAB27A, KITLG
5	tumorigenesis	MP:0002006	8.3	EDNRB, PDGFRA, PAX3, KITLG, KIT
6	muscle phenotype	MP:0005369	8.1	EDNRB, PDGFRA, TEK, PAX3, MYO5A, KIT
7	behavior/neurological phenotype	MP:0005386	8.0	KIT, MYO5A, PAX3, MITF, SNAI2, PDGFRA
8	embryogenesis phenotype	MP:0005380	8.0	EDNRB, PDGFRA, SNAI2, TEK, PAX3, KITLG
9	hearing/vestibular/ear phenotype	MP:0005377	8.0	EDNRB, HPS1, MITF, PAX3, MYO5A, KITLG
10	renal/urinary system phenotype	MP:0005367	7.8	EDNRB, PDGFRA, HPS1, FABP2, PAX3, KIT
11	limbs/digits/tail phenotype	MP:0005371	7.7	EDNRB, PDGFRA, HPS1, MITF, PAX3, MYO5A
12	hematopoietic system phenotype	MP:0005397	7.5	PDGFRA, SNAI2, TEK, HPS1, MITF, PAX3
13	cardiovascular system phenotype	MP:0005385	7.4	EDNRB, PDGFRA, TEK, HPS1, PAX3, KITLG
14	craniofacial phenotype	MP:0005382	7.4	EDNRB, PDGFRA, SNAI2, HPS1, MITF, PAX3
15	cellular phenotype	MP:0005384	7.2	EDNRB, PDGFRA, SNAI2, TEK, HPS1, PAX3
16	vision/eye phenotype	MP:0005391	7.2	MITF, HPS1, SNAI2, EDNRB, MLPH, PAX3
17	nervous system phenotype	MP:0003631	7.1	TEK, SNAI2, PDGFRA, EDNRB, MITF, PAX3
18	mortality/aging	MP:0010768	7.1	EDNRB, PDGFRA, SNAI2, TEK, MITF, MLPH
19	pigmentation phenotype	MP:0001186	6.9	KIT, EDNRB, PDGFRA, SNAI2, HPS1, MITF
20	integument phenotype	MP:0010771	6.9	HPS1, SNAI2, PDGFRA, EDNRB, MITF, MLPH
21	immune system phenotype	MP:0005387	6.9	EDNRB, PDGFRA, SNAI2, HPS1, MITF, MLPH
22	growth/size phenotype	MP:0005378	6.5	EDNRB, PDGFRA, SNAI2, TEK, FABP2, MITF
23	homeostasis/metabolism phenotype	MP:0005376	6.1	EDNRB, PDGFRA, TEK, HPS1, FABP2, MITF

Articles related to piebaldism:

(show all 32)

id	Title	Authors	Year	Affiliating Genes
1	Two children with a mild or moderate piebaldism pheno type and a father without leukoderma in a family with the same recurrent missen se mutation in the kinase domain of KIT. (21680281)	Narita T.... Suzuki T.	2011	KIT
2	Piebaldism and neurofibromatosis type 1: family repor t. (20137753)	Duarte A.F.... Azevedo F.	2010	KIT
3	A novel mutation in the kinase domain of KIT in an In dian family with a mild piebaldism phenotype. (20688482)	Chong K.L.... Goh B.K.	2010	KIT
4	A novel KIT missense mutation in one Chinese family w ith piebaldism. (19430803)	Yin X.Y.... Zhang X.J.	2009	KIT
5	Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. (17124503)	Bondanza S.... Guerra L.	2007	KIT
6	New mutations of KIT gene in two Chinese patients with piebaldism. (17107413)	Lin Z.M.... Yang Y.	2006	KIT
7	Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation. (16456533)	Tosaki H.... Kitajima Y.	2006	KIT
8	A novel KIT gene mutation from a family with piebaldism in the southern part of China (16331568)	Deng W.P.... Feng P.Y.	2005	KIT
9	A novel KIT gene mutation results in piebaldism (16220461)	Deng W.P.... Feng P.Y.	2005	KIT
10	Mastocytosis or piebaldism--the KIT mutation decides (15055122)	Roupe G.	2004	KIT
11	New KIT mutations in patients with piebaldism. (15194144)	Murakami T.... Ishii M.	2004	KIT
12	Deletion of the SLUG (SNAI2) gene results in human piebaldism. (12955764)	Sanchez-Martin M.... Sanchez-Garcia I.	2003	KIT, SNAI2
13	Human piebaldism: six novel mutations of the proto-oncogene KIT. (12204004)	Syrris P.... Carter N.D.	2002	KIT
14	A novel KIT mutation results in piebaldism with progressive depigmentation. (11174389)	Richards K.A.... Paller A.S.	2001	KIT, MITF
15	Three novel mutations of the proto-oncogene KIT cause human piebaldism. (11074500)	Syrris P.... Metcalfe K.	2000	KIT
16	A novel KIT gene missense mutation in a Japanese family with piebaldism. (9699740)	Nomura K.... Shiraishi M.	1998	KIT
17	Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. (9853966)	Sviderskaya E.V.... Bennett D.C.	1998	EDNRB
18	Piebaldism with deafness: molecular evidence for an expanded syndrome. (9450866)	Spritz R.A.... Beighton P.	1998	KIT
19	Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. (7534102)	Dippel E.... Czarnetzki B.M.	1995	KIT
20	Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. (7529964)	Ezoe K.... Ishii N.	1995	KIT
21	A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism. (8680409)	Riva P.... Larizza L.	1995	KIT
22	Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. (8001159)	Hosoda K.... Yanagisawa M.	1994	EDNRB
23	Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). (7518854)	Spritz R.A.... Strunk K.M.	1994	KIT
24	Molecular basis of human piebaldism. (7525736)	Spritz R.A.	1994	KIT
25	Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (7687267)	Spritz R.A.... Kuester W.	1993	KIT
26	Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (1370874)	Spritz R.A.... Holmes S.A.	1992	KIT
27	Deletion of the KIT and PDGFRA genes in a patient with piebaldism. (1279971)	Spritz R.A.... Fukushima Y.	1992	PDGFRA, KIT
28	Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. (1376329)	Fleischman R.A.	1992	KIT
29	Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. (1384325)	Spritz R.A.... Beighton P.	1992	KIT
30	Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. (1717985)	Giebel L.B.... Spritz R.A.	1991	KIT
31	Deletion of the c-kit protooncogene in the human developmental defect piebald trait. (1720553)	Fleischman R.A.... Zneimer S.	1991	KIT
32	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)	Yamamoto Y.... Ikemoto S.	1989	FABP2

Genes related to piebaldism according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	11.1	Publications, Summaries, Aliases & Descriptions
2	SNAI2	snail homolog 2 (Drosophila)	11.0	Publications
3	MLPH	melanophilin	11.0
4	RAB27A	RAB27A, member RAS oncogene family	11.0
5	PAX3	paired box 3	11.0
6	PDGFRA	platelet-derived growth factor receptor, alpha polypeptide	11.0	Publications
7	MYO5A	myosin VA (heavy chain 12, myoxin)	11.0
8	MITF	microphthalmia-associated transcription factor	11.0	Publications
9	KITLG	KIT ligand	11.0
10	CLEC11A	C-type lectin domain family 11, member A	11.0
11	HPS1	Hermansky-Pudlak syndrome 1	11.0
12	EDNRB	endothelin receptor type B	11.0	Functions, Publications
13	FABP2	fatty acid binding protein 2, intestinal	11.0	Publications
14	TEK	TEK tyrosine kinase, endothelial	11.0

Pathways related to piebaldism according to GeneDecks:

(show all 30)

id	Pathway	Score	Top Affiliating Genes
1	Innate Immune System38	9.8	PDGFRA, KITLG, KIT
2	Melanocyte Development and Pigmentation36	9.5	KIT, KITLG, PAX3, MITF
3	Apoptotic Pathways in Synovial Fibroblasts36	9.5	KIT, KITLG, PDGFRA
4	Actin Nucleation and Branching36	9.5	PDGFRA, TEK, KIT
5	Actin Nucleation by ARP-WASP Complex36	9.4	KIT, MYO5A, TEK, PDGFRA
6	PAK Pathway36	9.4	PDGFRA, MYO5A, KITLG, KIT
7	Pathways in cancer20	9.4	PDGFRA, MITF, KITLG, KIT
8	Tyrosine Kinases / Adaptors3	9.4	PDGFRA, TEK, KITLG, KIT
9	Nanog in Mammalian ESC Pluripotency36	9.3	PDGFRA, TEK, KITLG, KIT
10	Paxillin Interactions36	9.3	PDGFRA, TEK, KITLG, KIT
11	14-3-3 Induced Intracellular Signaling36	9.3	PDGFRA, TEK, KITLG, KIT
12	Ras Pathway36	9.3	PDGFRA, TEK, KITLG, KIT
13	Pancreatic Adenocarcinoma36	9.3	KIT, KITLG, TEK, PDGFRA
14	eNOS Signaling36	9.3	PDGFRA, TEK, KITLG, KIT
15	NFAT in Immune Response36	9.3	KIT, KITLG, TEK, PDGFRA
16	P2Y Receptor Signaling36	9.3	KIT, TEK, PDGFRA
17	Estrogen Pathway36	9.3	KIT, KITLG, TEK, PDGFRA
18	GPCR Pathway36	9.3	PDGFRA, TEK, KITLG, KIT
19	GSK3 Signaling36	9.2	PDGFRA, TEK, KITLG, KIT
20	Melanogenesis20	9.2	KIT, KITLG, MITF, EDNRB
21	p53 Mediated Apoptosis36	9.2	PDGFRA, KITLG, KIT
22	JNK Pathway36	9.2	KIT, KITLG, TEK, PDGFRA
23	JAK-STAT Pathway36	9.2	PDGFRA, TEK, KITLG, KIT
24	Breast Cancer Regulation by Stathmin136	9.2	KIT, KITLG, TEK, PDGFRA
25	Activation of PKA through GPCR36	9.1	PDGFRA, TEK, KITLG, KIT
26	Endothelin-1 Signaling Pathway36	9.1	EDNRB, PDGFRA, TEK, KIT
27	Intracellular Calcium Signaling36	9.1	KIT, KITLG, TEK, PDGFRA
28	Antioxidant Action of Vitamin-C36	9.0	PDGFRA, TEK, MYO5A, KITLG, KIT
29	p38 Signaling36	9.0	KIT, KITLG, TEK, PDGFRA
30	ILK Signaling36	8.8	PDGFRA, SNAI2, TEK, MYO5A, KITLG, KIT

Compounds related to piebaldism according to GeneDecks:

(show all 15)

id	Compound	Score	Top Affiliating Genes
1	monochloroacetic acid32	10.1	KIT, KITLG
2	pkc 41232	10.1	KIT, PDGFRA
3	toluidine32	9.9	KITLG, KIT
4	su541632	9.9	KITLG, KIT
5	ag-129632	9.8	KIT, KITLG, PDGFRA
6	rhodamine 12332 34	10.7	KITLG, KIT
7	hydroxyurea32 9 9	11.7	PDGFRA, KITLG, KIT
8	imatinib32 34 9 9	12.5	KIT, KITLG, PDGFRA
9	agarose32	8.9	KIT, KITLG, EDNRB
10	paraffin32	8.9	PDGFRA, TEK, MITF, KITLG, KIT
11	phosphatidylinositol32	8.4	KIT, KITLG, TEK, PDGFRA, EDNRB
12	vegf32	8.2	EDNRB, PDGFRA, TEK, CLEC11A, KITLG, KIT
13	glucose32	8.0	EDNRB, FABP2, RAB27A, MYO5A, KITLG, KIT
14	retinoic acid32 42 18	9.8	EDNRB, PDGFRA, FABP2, CLEC11A, KITLG, KIT
15	tyrosine32	7.7	EDNRB, PDGFRA, SNAI2, TEK, MITF, PAX3

Biological processes related to piebaldism according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of phospholipase C activity	GO:010863	10.0	KIT, PDGFRA
2	germ cell programmed cell death	GO:035234	10.0	KIT, KITLG
3	pigmentation	GO:043473	10.0	KIT, SNAI2
4	embryonic hemopoiesis	GO:035162	9.9	KIT, KITLG
5	cell chemotaxis	GO:060326	9.8	PDGFRA, KIT
6	positive regulation of phosphatidylinositol 3-kinase activity	GO:043552	9.6	PDGFRA, TEK, KIT
7	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	9.6	KIT, TEK, PDGFRA
8	peptidyl-tyrosine phosphorylation	GO:018108	9.5	PDGFRA, TEK, KIT
9	neural crest cell migration	GO:001755	9.4	KITLG, EDNRB
10	melanocyte differentiation	GO:030318	9.2	KIT, RAB27A, MITF, EDNRB
11	protein autophosphorylation	GO:046777	9.1	KIT, TEK, PDGFRA

Molecular functions related to piebaldism according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane receptor protein tyrosine kinase activity	GO:004714	9.4	KIT, TEK, PDGFRA