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Piebaldism
1 OMIM reference -
2 associated genes
89 connected diseases
20 signs/symptoms
Disease Type of connection
Gastrointestinal stromal tumor
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Waardenburg syndrome type 2
Precursor B-cell acute lymphoblastic leukemia
Juvenile myelomonocytic leukemia
Autosomal agammaglobulinemia
Distal 22q11.2 microdeletion syndrome
Chronic myeloid leukemia
Precursor T-cell acute lymphoblastic leukemia
Essential thrombocythemia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Congenital pulmonary alveolar proteinosis
Familial progressive hyper- and hypopigmentation
Familial progressive hyperpigmentation
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
SHORT syndrome
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Severe combined immunodeficiency due to LCK deficiency
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Congenital communicating hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Common variable immunodeficiency
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Inflammatory myofibroblastic tumor
Translocation renal cell carcinoma
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Cherubism
Combined immunodeficiency due to ZAP70 deficiency
MODY syndrome
PLCG2-associated antibody deficiency and immune dysregulation
X-linked lymphoproliferative disease
Primary familial polycythemia
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Omenn syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Cerebellar ataxia - hypogonadism
Dedifferentiated liposarcoma
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Idiopathic hypereosinophilic syndrome
Li-Fraumeni syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Papilloma of choroid plexus
Well-differentiated liposarcoma
Legius syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
T-B+ severe combined immunodeficiency due to JAK3 deficiency
X-linked agammaglobulinemia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D016116
Gene symbol UniProt reference OMIM reference
KIT P10721164920
SNAI2 O43623602150
Very frequent
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Irregular / patchy skin hypopigmentation
- White forelock / piebaldism

Frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Irregular / in bands / reticular skin hyperpigmentation
- Macules

Occasional
- Anomalies of mouth, lip and philtrum
- Ataxia / incoordination / trouble of the equilibrium
- Brachycephaly / flat occiput
- Broad nasal root
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Microcephaly
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Synophris / synophrys