Piebaldism

General Information (adopted from Orphanet):

Synonyms, Signs: PIEBALDISM
PBT
Number of Symptoms 32
OrphanetNr: 2884
OMIM Id: 172800
ICD-10: E70.3
UMLs: C0080024
MeSH: D016116
MedDRA:
Snomed: 6479008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Eyebrow/eyelashes pigmentation anomaly
 -Rare eye disease
 -Rare genetic disease
Genetic hypopigmentation of the skin
 -Rare genetic disease
Hypopigmentation of the skin
 -Rare skin disease
Pigmentation disorder with eye involvement, excluding albinism
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000153) Abnormality of the mouth Occasional [Orphanet] 60 / 7739
2
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
3
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
4
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
5
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
6
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
7
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
8
 (HPO:0001100) Heterochromia iridis Occasional [Orphanet] 31 / 7739
9
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
10
 (HPO:0000598) Abnormality of the ear 98 / 7739
11
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
12
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
13
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
14
 (HPO:0007544) Piebaldism 3 / 7739
15
 (HPO:0007542) Absent pigmentation of the ventral chest 2 / 7739
16
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
17
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
18
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
19
 (HPO:0007443) Partial albinism 8 / 7739
20
 (HPO:0011365) Patchy hypopigmentation of hair Very frequent [Orphanet] 8 / 7739
21
 (HPO:0002211) White forelock 18 / 7739
22
 (HPO:0002664) Neoplasm 111 / 7739
23
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (MedDRA:10025421) Macule Frequent [Orphanet] 55 / 7739
26
 (OMIM) Absent pigmentation of medial forehead, eyebrows and chin 2 / 7739
27
 (OMIM) Occasional deafness 1 / 7739
28
 (OMIM) Absent pigmentation of ventral chest, abdomen and limbs 2 / 7739
29
 (OMIM) Hyperpigmented borders of unpigmented areas 2 / 7739
30
 (OMIM) Frequent epitheliomas 1 / 7739
31
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
32
 (OMIM) Rare Hirschsprung disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Sundfor (1939) described a family in which many persons had a white forelock, often with unpigmented patches on the forehead, limbs, and other areas of the body.

Loewenthal (1959) assigned the name albinoidism to a dominantly ...
Genotype-Phenotype Correlations OMIM The severity of the clinical phenotype in patients with piebaldism correlates with the site of the mutation with the KIT gene. The most severe mutations tend to be dominant-negative missense mutations involving the intracellular tyrosine kinase domain. Mutations ...
Molecular genetics OMIM Giebel and Spritz (1991) identified a heterozygous mutation in the KIT protooncogene as the cause of piebaldism; see 164920.0001.

Spritz and Beighton (1998) described a South African girl of Xhosa stock with severe piebaldism and profound ...