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GAPO syndrome
1 OMIM reference -
1 associated gene
56 signs/symptoms
PROTEIN INTERACTIONS: 1
Primary peritoneal carcinoma
1 associated gene
9 signs/symptoms
GAPO syndrome
Primary peritoneal carcinoma

ANTXR1
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ANTXR1
(0.62)
BRCA1


Citations in the biomedical literature:


GAPO syndrome
ANTXR1
Primary peritoneal carcinoma
BRCA1



GAPO syndrome
Primary peritoneal carcinoma

Synonym(s):
- Growth delay - alopecia - pseudoanodontia - optic atrophy
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 eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare odontologic disease
- Rare skin disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
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
GAPO syndrome
Primary peritoneal carcinoma

Very frequent
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Alopecia
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad forehead
- Decreased body hair / axillar / pubic hairlessness
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Depressed nasal bridge
- Everted lower lip
- Flared / thick ala nasi
- Flat supraorbital ridge
- Frontal bossing / prominent forehead
- High forehead
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Long philtrum
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Premature ageing
- Protruding lips
- Puffy eyelids
- Short stature / dwarfism / nanism

Frequent
- Anomalies of chest / thorax / trunk
- Anomalies of spine, vertebrae and pelvis
- Cerebral vascular anomalies
- Clavicle absent / abnormal
- Glaucoma
- High vaulted / narrow palate
- Hypoplastic mandibula / partial absence of the mandibula
- Keratoconus / keratoglobus
- Metaphyseal anomaly
- Pedunculated skin lesions
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Prognathism / prognathia
- Storage liver disease
- Umbilical hernia
- Visual loss / blindness / amblyopia

Occasional
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Asymmetric rib cage / thorax
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Choanal atresia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Irregular / patchy skin hypopigmentation
- Late puberty / hypogonadism / hypogenitalism
- Myopia
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Poorly ossified skull / calvarium
- Precocious menopause / secondary amenorrhea
- Urinary / renal lithiasis / kidney stones / nephritic colic


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