ODCs

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3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
29 signs/symptoms

Homozygous familial hypercholesterolemia

Donnai-Barrow syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LDLRAP1 APOB	(0.89) (0.65)	LRP2 LRP2

Citations in the biomedical literature:

Homozygous familial hypercholesterolemia		Donnai-Barrow syndrome
	Synonym(s): - HoFH		Synonym(s): - DBS/FOAR syndrome - Diaphragmatic hernia-exomphalos-hypertelorism syndrome - Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome - FOAR syndrome - Facio-oculo-acoustico-renal syndrome - Holmes-Schepens syndrome - Syndrome of ocular and facial anomalies, telecanthus and deafness

	Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical thoracic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536390

Donnai-Barrow syndrome
	Very frequent - Autosomal recessive inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High hair line (front) / widow peak - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Low set ears / posteriorly rotated ears - Myopia - Proteinuria - Sensorineural deafness / hearing loss - Short / small nose Frequent - Broad forehead - Diaphragmatic hernia / defect / agenesis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Omphalocele / exomphalos - Proptosis / exophthalmos - Retinal detachment - Umbilical hernia - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Intestinal / gut / bowel malrotation - Retinal / chorioretinal dysplasia / dystrophy - Retinoschisis / retinal / chorioretinal coloboma - Seizures / epilepsy / absences / spasms / status epilepticus - Stillbirth / neonatal death - Uterine / uterus / Fallopian tubes anomalies - Ventricular septal defect / interventricular communication
Homozygous familial hypercholesterolemia
(no data available)