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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Desmoid tumor
1 OMIM reference -
2 associated genes
21 signs/symptoms
Autosomal recessive primary microcephaly
Desmoid tumor

ASPM
(UniProt - OMIM)
 APC
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
 CTNNB1
(UniProt - OMIM)
CDK5RAP2
(UniProt - OMIM)
CDK6
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP135
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
CEP63
(UniProt - OMIM)
MCPH1
(UniProt - OMIM)
PHC1
(UniProt - OMIM)
STIL
(UniProt - OMIM)
WDR62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CDK6
(0.55)
CTNNB1


Citations in the biomedical literature:


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

Desmoid tumor
APC CTNNB1



Autosomal recessive primary microcephaly
Desmoid tumor

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
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: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Desmoid tumor

Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain
- Polyposis of the bowel / colon / intestine

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Early death / lethality
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain


Autosomal recessive primary microcephaly

(no data available)