Cytoscape Web
Click node...

Piebaldism
1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Familial thrombocytosis
4 OMIM references -
3 associated genes
26 signs/symptoms
Piebaldism
Familial thrombocytosis

KIT
(UniProt - OMIM)
 JAK2
(UniProt - OMIM)
SNAI2
(UniProt - OMIM)
 MPL
(UniProt - OMIM)
THPO
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIT
(0.85)
JAK2


Citations in the biomedical literature:


Piebaldism
KIT SNAI2
Familial thrombocytosis
JAK2 MPL THPO



Piebaldism
Familial thrombocytosis

Synonym(s):
(no synonyms)

Synonym(s):
- Familial thrombocythemia
- Hereditary thrombocythemia
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
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:
4 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance

Piebaldism
Familial thrombocytosis

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
- Arterial embolism / thrombosis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Acute ischemia of the lower limbs
- Acute ischemic syndrome
- Facial pain / cephalalgia / migraine
- Hyperhidrosis / increased sweating
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pruritus / itching
- Splenomegaly
- Thoracic / chest pain
- Transient cerebral ischemia / stroke

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Acute leukemia
- Dizziness
- Early death / lethality
- Elocution disorders / dysarthria / dysphonia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia
- Pulmonary hypertension
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spontaneous abortions
- Weight loss / loss of appetite / break in weight curve / general health alteration