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Incontinentia pigmenti
1 OMIM reference -
1 associated gene
64 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Polycythemia vera
1 OMIM reference -
3 associated genes
25 signs/symptoms
Incontinentia pigmenti
Polycythemia vera

IKBKG
(UniProt - OMIM)
 JAK2
(UniProt - OMIM)
MPL
(UniProt - OMIM)
TET2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IKBKG
(0.56)
JAK2


Citations in the biomedical literature:


Incontinentia pigmenti
IKBKG
Polycythemia vera
JAK2 MPL TET2



Incontinentia pigmenti
Polycythemia vera

Synonym(s):
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
Synonym(s):
- Acquired primary erythocytosis
- Erythremia
- Osler-Vaquez disease
- PV
- Polycythemia rubra vera
- Vaquez disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D007184
External references:
1 OMIM reference -
1 MeSH reference: D011087
COMMON
SIGNS 		- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Transient cerebral ischemia / stroke

Incontinentia pigmenti
Polycythemia vera

Very frequent
- Abnormal fingernails
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / small fingernails / anonychia of hands
- Anodontia / oligodontia / hypodontia
- Cutaneous rash
- Hair and scalp anomalies
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Telangiectasiae of the skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Warts / papillomas
- X-linked dominant inheritance

Frequent
- Abnormal gait
- Alopecia
- Anomalies of ear and hearing
- Anomalies of hands
- Anomalies of the ribs
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cleft lip and palate
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Complete claw hand / camptodactyly of all fingers
- Corneal clouding / opacity / vascularisation
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Eosinophils anomalies / hypereosinophilia
- Hyperactivity / attention deficit
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Osteolysis / osteoclasia / bone destruction / erosions
- Scoliosis
- Short stature / dwarfism / nanism
- Strabismus / squint
- Supernumerary nipples / polythelia
- Tooth shape anomaly
- Visual loss / blindness / amblyopia

Occasional
- Abnormal toenails
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Blue sclerae
- Cataract / lens opacification
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Encephalitis
- Hand agenesis / absence
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Motor deficit / trouble
- Pulmonary hypertension
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spina bifida occulta
- Syndactyly of fingers / interdigital palm
- Umbilical hernia


Very frequent
- Acute abdominal pain / colic
- Acute leukemia
- Angor pectoris / myocardial infarction
- Chronic arterial hypertension
- Dizziness
- Ecchymoses
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Gingivorrhagia / gingival bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Myelodysplastic syndrome
- Splenomegaly
- Tinnitus
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Arterial embolism / thrombosis
- Claudication / pain on mastication / while chewing
- Portal hypertension
- Pruritus / itching
- Venous thrombosis / phlebitis / thrombophlebitis