ODCs

Click node...

GAPO syndrome

1 OMIM reference -
1 associated gene
56 signs/symptoms

PROTEIN INTERACTIONS: 1

Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

1 OMIM reference -
1 associated gene
No signs/symptoms info

GAPO syndrome

Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

ANTXR1

(UniProt - OMIM)

LRP6

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ANTXR1	(0.67)	LRP6

Citations in the biomedical literature:

GAPO syndrome		Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
	Synonym(s): - Growth delay - alopecia - pseudoanodontia - optic atrophy		Synonym(s): (no synonyms)

	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 cardiac disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: <1 / 1 000 000 Average age onset: no data available Average age of death: - Type of inheritance: autosomal dominant

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

GAPO syndrome
	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
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
(no data available)