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Distal monosomy 3p
1 OMIM reference -
3 associated genes
35 signs/symptoms
PROTEIN INTERACTIONS: 1
Primary peritoneal carcinoma
1 associated gene
9 signs/symptoms
Distal monosomy 3p
Primary peritoneal carcinoma

CHL1
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
CNTN4
(UniProt - OMIM)
CRBN
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CNTN4
(0.63)
BRCA1


Citations in the biomedical literature:


Distal monosomy 3p
CHL1 CNTN4 CRBN
Primary peritoneal carcinoma
BRCA1



Distal monosomy 3p
Primary peritoneal carcinoma

Synonym(s):
- Distal 3p deletion
- Monosomy 3pter
- Telomeric monosomy 3p
Synonym(s):
- EOPPC
- Extra-ovarian primary peritoneal carcinoma
- PPC
- Primary peritoneal serous carcinoma
- Serous surface papillary carcinoma
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Distal monosomy 3p
Primary peritoneal carcinoma

Very frequent
- Hypertelorism
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Ptosis
- Short stature / dwarfism / nanism
- Telecanthus / canthal dystopy

Frequent
- Atrioventricular canal
- Brachycephaly / flat occiput
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downturned mouth
- Epicanthic folds
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypotonia
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Microcephaly
- Postaxial polydactyly (hand)
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anteverted nares / nostrils
- Blepharophimosis / short palpebral fissures
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Inguinal / inguinoscrotal / crural hernia
- Sacral sinus / dimple
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short neck
- Thin / retracted lips
- Triangular face
- Umbilical hernia


Very frequent
- Acute abdominal pain / colic
- Anomalies of the abdominal wall
- Constipation
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Peritoneal diseases
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Early death / lethality