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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Loeys-Dietz syndrome type 1

2 OMIM references -
2 associated genes
29 signs/symptoms

Myhre syndrome

Loeys-Dietz syndrome type 1

SMAD4	(UniProt - OMIM)		TGFBR1	(UniProt - OMIM)
			TGFBR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4 SMAD4	(0.78) (0.52)	TGFBR1 TGFBR2

Citations in the biomedical literature:

Myhre syndrome		Loeys-Dietz syndrome type 1
	Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss		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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		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: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula

Myhre syndrome		Loeys-Dietz syndrome type 1
	Very frequent - Anomalies of the ribs - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microstomia / little mouth - Mid-facial hypoplasia / short / small midface - Muscle hypertrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Prognathism / prognathia - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short philtrum - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal EMG / electromyogram / electropmyography - Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick skin / pachydermia / orange skin - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Late puberty / hypogonadism / hypogenitalism - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Precocious puberty - Psychic / behavioural troubles		Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - Autosomal dominant inheritance - Flat foot - High vaulted / narrow palate - Palate anomalies - Patent ductus arteriosus - Uterine rupture Frequent - Abnormal scarring / cheloids / hypertrophic scars - Blue sclerae - Camptodactyly of fingers - Flat cheek bones / malar hypoplasia - Long hand / arachnodactyly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Striae - Tall stature / gigantism / growth acceleration Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Craniostenosis / craniosynostosis / sutural synostosis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Pectus carinatum - Pectus excavatum - Thin skin