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Ataxia-telangiectasia
2 OMIM references -
1 associated gene
39 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
Incontinentia pigmenti
1 OMIM reference -
1 associated gene
64 signs/symptoms
Ataxia-telangiectasia
Incontinentia pigmenti

ATM
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATM
(0.85)
IKBKG


Citations in the biomedical literature:


Ataxia-telangiectasia
ATM
Incontinentia pigmenti
IKBKG



Ataxia-telangiectasia
Incontinentia pigmenti

Synonym(s):
- Louis-Bar syndrome
Synonym(s):
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare immune disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
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
External references:
2 OMIM references -
1 MeSH reference: D001260
External references:
1 OMIM reference -
1 MeSH reference: D007184
COMMON
SIGNS 		- Abnormal gait
- Hypertonia / spasticity / rigidity / stiffness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Strabismus / squint
- Telangiectasiae of the skin

Ataxia-telangiectasia
Incontinentia pigmenti

Very frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal hepatic enzymes / transaminases
- Abnormal / polycystic ovaries
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Chromosome breakage
- Late puberty / hypogonadism / hypogenitalism
- Lymphopenia
- Movement disorder
- Nystagmus
- Premature ageing
- Premature greying of hair
- Repeat respiratory infections
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- T-cell deficiency / cellular immunity deficiency
- Telangiectasiae of mucosae
- Thymic aplasia / hypoplasia
- Tremor

Frequent
- Albinism (hair)
- Diabetes mellitus
- Elocution disorders / dysarthria / dysphonia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Neoplasms / tumors

Occasional
- Cafe-au-lait spot
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Insulin-independent / type 2 diabetes
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia


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
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Warts / papillomas
- X-linked dominant inheritance

Frequent
- 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
- Osteolysis / osteoclasia / bone destruction / erosions
- Scoliosis
- 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
- Hypotonia
- Motor deficit / trouble
- Pulmonary hypertension
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Retinal / chorioretinal dysplasia / dystrophy
- Spina bifida occulta
- Syndactyly of fingers / interdigital palm
- Transient cerebral ischemia / stroke
- Umbilical hernia