ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

Seckel syndrome

6 OMIM references -
6 associated genes
24 signs/symptoms

HERNS syndrome

Seckel syndrome

TREX1	(UniProt - OMIM)		ATR	(UniProt - OMIM)
			ATRIP	(UniProt - OMIM)
			CENPJ	(UniProt - OMIM)
			CEP152	(UniProt - OMIM)
			PCNT	(UniProt - OMIM)
			RBBP8	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TREX1	(0.55)	ATR

Citations in the biomedical literature:

HERNS syndrome		Seckel syndrome
	Synonym(s): - Hereditary endotheliopathy - retinopathy - nephropathy - stroke		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: no data available Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 6 OMIM references - 1 MeSH reference: C537533

HERNS syndrome		Seckel syndrome
	Very frequent - Autosomal dominant inheritance Frequent - Elocution disorders / dysarthria / dysphonia - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Facial pain / cephalalgia / migraine - Hematuria / microhematuria - Hemiplegia / diplegia / hemiparesia / limb palsy - Proteinuria - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Renal disease / nephropathy - Retinal vascular anomalies / retinal telangiectasia - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke - Visual loss / blindness / amblyopia Occasional - Ataxia / incoordination / trouble of the equilibrium - Motor deficit / trouble - Sensitive trouble / deficit		Very frequent - Abnormal / absent ossification - Autosomal recessive inheritance - Beaked nose - Clinodactyly of fifth finger - Craniostenosis / craniosynostosis / sutural synostosis - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Premature ageing - Short stature / dwarfism / nanism - Small / hypoplastic / adherent / absent ear lobe - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Frequent - Anodontia / oligodontia / hypodontia - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Enamel anomaly - Glaucoma - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Scoliosis