ODCs

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Donnai-Barrow syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Familial thyroid dyshormonogenesis

6 OMIM references -
6 associated genes
16 signs/symptoms

Donnai-Barrow syndrome

Familial thyroid dyshormonogenesis

LRP2	(UniProt - OMIM)	DUOX2	(UniProt - OMIM)
		DUOXA2	(UniProt - OMIM)
		IYD	(UniProt - OMIM)
		SLC5A5	(UniProt - OMIM)
		TG	(UniProt - OMIM)
		TPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LRP2	(0.65)	TG

Citations in the biomedical literature:

Donnai-Barrow syndrome		Familial thyroid dyshormonogenesis
	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		Synonym(s): - Thyroid dyshormonogenesis

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

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

	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		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C536390		External references: 6 OMIM references - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Umbilical hernia

Donnai-Barrow syndrome		Familial thyroid dyshormonogenesis
	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 - 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 - 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		Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders Frequent - Goiter - Short stature / dwarfism / nanism