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Ataxia-telangiectasia
2 OMIM references -
1 associated gene
39 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
LIG4 syndrome
1 OMIM reference -
1 associated gene
34 signs/symptoms
Ataxia-telangiectasia
LIG4 syndrome

ATM
(UniProt - OMIM)
 LIG4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATM
(0.63)
LIG4


Citations in the biomedical literature:


Ataxia-telangiectasia
ATM
LIG4 syndrome
LIG4



Ataxia-telangiectasia
LIG4 syndrome

Synonym(s):
- Louis-Bar syndrome
Synonym(s):
- DNA ligase IV deficiency
- Ligase 4 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 genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: D001260
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal recessive inheritance
- Chromosome breakage
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Insulin-independent / type 2 diabetes
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Telangiectasiae of the skin

Ataxia-telangiectasia
LIG4 syndrome

Very frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Abnormal hepatic enzymes / transaminases
- Abnormal / polycystic ovaries
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of the immunitary system
- Ataxia / incoordination / trouble of the equilibrium
- 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
- Strabismus / squint
- T-cell deficiency / cellular immunity deficiency
- Telangiectasiae of mucosae
- Thymic aplasia / hypoplasia
- Tremor

Frequent
- Albinism (hair)
- Diabetes mellitus
- Elocution disorders / dysarthria / dysphonia
- Hypertonia / spasticity / rigidity / stiffness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism

Occasional
- Cafe-au-lait spot
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia


Very frequent
- Microcephaly

Frequent
- Acute leukemia
- Bone marrow failure / pancytopenia
- Brachycephaly / flat occiput
- Broad nasal root
- Epicanthic folds
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Long / large / bulbous nose
- Low hair line-front
- Lymphoma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow forehead
- Skin photosensitivity
- Telecanthus / canthal dystopy
- Thin / retracted lips
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anomalies of bones / skeletal anomalies
- Clinodactyly of fifth finger
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperleukocytosis / leukocytosis
- Hypothyroidy
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Micropenis / small penis / agenesis
- Severe combined immune deficiency syndrome / SCID
- Undescended / ectopic testes / cryptorchidia / unfixed testes