ODCs

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X-linked intellectual deficit with marfanoid habitus

2 OMIM references -
3 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

Loeys-Dietz syndrome type 1

2 OMIM references -
2 associated genes
29 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Loeys-Dietz syndrome type 1

MED12	(UniProt - OMIM)	TGFBR1	(UniProt - OMIM)
UPF3B	(UniProt - OMIM)	TGFBR2	(UniProt - OMIM)
ZDHHC9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED12	(0.72)	TGFBR2

Citations in the biomedical literature:

X-linked intellectual deficit with marfanoid habitus		Loeys-Dietz syndrome type 1
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Flat cheek bones / malar hypoplasia - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum - Scoliosis - Tall stature / gigantism / growth acceleration

X-linked intellectual deficit with marfanoid habitus		Loeys-Dietz syndrome type 1
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High forehead - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Psychic / behavioural troubles - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Corpus callosum / septum pellucidum total / partial agenesis - High nasal bridge - Hyperactivity / attention deficit - Macroorchidism / macrotestes - Narrow face - Short philtrum Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Brachycephaly / flat occiput - Camptodactyly of some fingers - Delirium / hallucination - Low set ears / posteriorly rotated ears - Prominent / bat ears - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly		Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - Autosomal dominant inheritance - Flat foot - Palate anomalies - Patent ductus arteriosus - Uterine rupture Frequent - Abnormal scarring / cheloids / hypertrophic scars - Blue sclerae - Camptodactyly of fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Striae Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Craniostenosis / craniosynostosis / sutural synostosis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Joint dislocation / subluxation - Pectus carinatum - Thin skin