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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
3 associated genes
7 signs/symptoms
Premature chromosome condensation with microcephaly and intellectual deficit
Mantle cell lymphoma

MCPH1 ATM
CCND1
IGH


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1
Mantle cell lymphoma
ATM CCND1 IGH



Premature chromosome condensation with microcephaly and intellectual deficit
Mantle cell lymphoma

Synonym(s):
(no synonyms)

Synonym(s):
- LCM
- MCL
- Mantle zone lymphoma

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D020522

Premature chromosome condensation with microcephaly and intellectual deficit
Mantle cell lymphoma

Very frequent
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism
- Sloping forehead
- Thin / retracted lips

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical anomaly / thick bone cortical layer
- Dilated cerebral ventricles without hydrocephaly
- Hypereflexia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter



Very frequent
- Hematologic / blood / lymphatic cancer
- Lymphadenopathy / polyadenopathies

Frequent
- Anorexia
- Asthenia / fatigue / weakness
- Bone marrow / medullar infiltration
- Splenomegaly
- Weight loss / loss of appetite / break in weight curve / general health alteration