Details of Disease

General Information of Disease (ID: DISDLDF2)

Disease Name Piebaldism
Synonyms PBT; partial albinism; piebald trait; piebaldism
Definition
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
Disease Hierarchy
DISB52BH: Eye disorder
DIS2IQBH: Neurocristopathy
DIS39YKC: Hypopigmentation of the skin
DIS3HIWD: Autosomal dominant disease
DISSCALK: Hereditary skin disorder
DISDLDF2: Piebaldism
Disease Identifiers
MONDO ID
MONDO_0008244
MESH ID
D016116
UMLS CUI
C0080024
OMIM ID
172800
MedGen ID
36361
HPO ID
HP:0007544
Orphanet ID
2884
SNOMED CT ID
6479008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MC1R TT0MV2T Strong Biomarker [1]
KIT TTX41N9 Definitive Autosomal dominant [2]
KIT TTX41N9 Definitive Genetic Variation [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLEC11A OT9KBH7C Strong Biomarker [4]
LYST OTIUB1B3 Strong Biomarker [5]
PAX3 OTN5PJZV Strong Genetic Variation [6]
SNAI2 OT7Y8EJ2 Strong Autosomal dominant [7]
KIT OTHUY3VZ Definitive Autosomal dominant [2]
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References

1 Piebaldism. J Dermatol. 2013 May;40(5):330-5. doi: 10.1111/j.1346-8138.2012.01583.x. Epub 2012 Jun 1.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 In-frame Val(216)-Ser(217) deletion of KIT in mild piebaldism causes aberrant secretion and SCF response.J Dermatol Sci. 2018 Jul;91(1):35-42. doi: 10.1016/j.jdermsci.2018.03.012. Epub 2018 Mar 21.
4 The molecular genetics of albinism and piebaldism.Arch Dermatol. 1994 Mar;130(3):355-8.
5 Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.Muscle Nerve. 2017 May;55(5):756-760. doi: 10.1002/mus.25414. Epub 2017 Feb 3.
6 Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.Am J Med Genet. 1994 Oct 15;53(1):75-80. doi: 10.1002/ajmg.1320530116.
7 Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32. doi: 10.1002/ajmg.a.20345.