ODCs

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Ehlers-Danlos syndrome with periventricular heterotopia

1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

LIG4 syndrome

1 OMIM reference -
1 associated gene
34 signs/symptoms

Ehlers-Danlos syndrome with periventricular heterotopia

LIG4 syndrome

FLNA

(UniProt - OMIM)

LIG4

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.63)	LIG4

Citations in the biomedical literature:

Ehlers-Danlos syndrome with periventricular heterotopia		LIG4 syndrome
	Synonym(s): - EDS with periventricular heterotopia		Synonym(s): - DNA ligase IV deficiency - Ligase 4 syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: young adult Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Ehlers-Danlos syndrome with periventricular heterotopia		LIG4 syndrome
	Very frequent - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - Scoliosis - X-linked dominant inheritance Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Hyperextensible joints / articular hyperlaxity - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomalies of the nervous system - Thin skin Occasional - Aortic root dilatation / dilation / aneurysm - Patella dislocation - Shoulder dislocation		Very frequent - Autosomal recessive inheritance - Chromosome breakage - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Microcephaly Frequent - Acute leukemia - Anomalies of skin, subcutaneous tissue and mucosae - Bone marrow failure / pancytopenia - Brachycephaly / flat occiput - Broad nasal root - Epicanthic folds - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Long / large / bulbous nose - Low hair line-front - Lymphoma - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow forehead - Skin photosensitivity - Telecanthus / canthal dystopy - Thin / retracted lips - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Anomalies of bones / skeletal anomalies - Clinodactyly of fifth finger - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperleukocytosis / leukocytosis - Hypothyroidy - Insulin-independent / type 2 diabetes - Lymphadenopathy / polyadenopathies - Malabsorption / chronic diarrhea / steatorrhea - Micropenis / small penis / agenesis - Severe combined immune deficiency syndrome / SCID - Telangiectasiae of the skin - Undescended / ectopic testes / cryptorchidia / unfixed testes