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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
39 signs/symptoms
Autosomal recessive primary microcephaly
Ataxia-telangiectasia

ASPM ATM
CASC5
CDK5RAP2
CDK6
CENPJ
CEP135
CEP152
CEP63
MCPH1
PHC1
STIL
WDR62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MCPH1
(0.52)
ATM



Citations in the biomedical literature:


Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62

Ataxia-telangiectasia
ATM



Autosomal recessive primary microcephaly
Ataxia-telangiectasia

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly

Synonym(s):
- Louis-Bar syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
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 (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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

External references:
11 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D001260

Ataxia-telangiectasia

Very frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- 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
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- 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
- Telangiectasiae of the skin
- 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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Insulin-independent / type 2 diabetes
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia


Autosomal recessive primary microcephaly

(no data available)