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Incontinentia pigmenti
1 OMIM reference -
1 associated gene
64 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
MALT lymphoma
4 associated genes
16 signs/symptoms
Incontinentia pigmenti
MALT lymphoma

IKBKG
(UniProt - OMIM)
 BIRC3
(UniProt - OMIM)
FOXP1
(UniProt - OMIM)
IGH
(UniProt)
MALT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IKBKG
IKBKG
(0.86)
(0.84)
MALT1
BIRC3


Citations in the biomedical literature:


Incontinentia pigmenti
IKBKG
MALT lymphoma
BIRC3 FOXP1 IGH MALT1



Incontinentia pigmenti
MALT lymphoma

Synonym(s):
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
Synonym(s):
- Extranodal marginal zone B-cell lymphoma
- MALToma
- Mucosa-associated lymphatic tissue lymphoma
- Mucosa-associated lymphoid tissue lymphoma
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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
1 MeSH reference: D007184
External references:
No OMIM references
No MeSH references
COMMON
SIGNS 		- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Hyperhidrosis / increased sweating

Incontinentia pigmenti
MALT lymphoma

Very frequent
- Abnormal fingernails
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / small fingernails / anonychia of hands
- Anodontia / oligodontia / hypodontia
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- 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
- 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
- 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
- Transient cerebral ischemia / stroke
- Umbilical hernia


Very frequent
- Asthenia / fatigue / weakness
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Fever / chilling
- Hematologic / blood / lymphatic cancer
- Lung / pulmonary infiltrates
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Constipation

Occasional
- Acute abdominal pain / colic
- Defect / anomaly of lacrimal system
- Lymphadenopathy / polyadenopathies
- Mediastinal / hilar adenopathies
- Repeat respiratory infections
- Thyroid anomalies