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Piebaldism
1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Cherubism
1 OMIM reference -
1 associated gene
13 signs/symptoms
Piebaldism
Cherubism

KIT
(UniProt - OMIM)
 SH3BP2
(UniProt - OMIM)
SNAI2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIT
(0.72)
SH3BP2


Citations in the biomedical literature:


Piebaldism
KIT SNAI2
Cherubism
SH3BP2



Piebaldism
Cherubism

Synonym(s):
(no synonyms)

Synonym(s):
- CRBM
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D016116
External references:
1 OMIM reference -
1 MeSH reference: D002636
COMMON
SIGNS 		- Autosomal dominant inheritance

Piebaldism
Cherubism

Very frequent
- 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


Very frequent
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Enlargment of jaw / large jaw
- High cheek bones

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anodontia / oligodontia / hypodontia
- Tooth shape anomaly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Apnea / sleep apnea
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proptosis / exophthalmos
- Visual loss / blindness / amblyopia