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Cabezas syndrome
1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
Cabezas syndrome
Li-Fraumeni syndrome

CUL4B
(UniProt - OMIM)
 CHEK2
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CUL4B
(0.65)
TP53


Citations in the biomedical literature:


Cabezas syndrome
CUL4B
Li-Fraumeni syndrome
CHEK2 TP53



Cabezas syndrome
Li-Fraumeni syndrome

Synonym(s):
- X-linked intellectual deficit, Cabezas type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D016864
Cabezas syndrome
Li-Fraumeni syndrome

Very frequent
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal gait
- Blepharophimosis / short palpebral fissures
- Everted lower lip
- Generalized obesity
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pes cavus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short foot / brachydactyly of toes
- Short stature / dwarfism / nanism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Tremor
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Occasional
- Acanthosis nigricans
- Hyperextensible joints / articular hyperlaxity
- Hyperhidrosis / increased sweating
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Syndactyly of toes


Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer