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Ehlers-Danlos syndrome type 1

1 OMIM reference -
3 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Temtamy syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Ehlers-Danlos syndrome type 1

Temtamy syndrome

COL1A1	(UniProt - OMIM)		C12ORF57	(UniProt - OMIM)
COL5A1	(UniProt - OMIM)
COL5A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1	(0.49)	C12ORF57

Citations in the biomedical literature:

Ehlers-Danlos syndrome type 1		Temtamy syndrome
	Synonym(s): - EDS I		Synonym(s): - Craniofacial dysmorphism - coloboma - corpus callosum agenesis - Temtamy-Shalash syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy 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: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536194		External references: 1 OMIM reference - 1 MeSH reference: C536959


COMMON SIGNS	- Aortic dilatation / dilation - Flat foot - Hyperextensible joints / articular hyperlaxity

Ehlers-Danlos syndrome type 1		Temtamy syndrome
	Very frequent - Autosomal dominant inheritance - Joint dislocation / subluxation - Skin hypoplasia / aplasia / atrophy - Thin skin Frequent - Bruisability - Diaphragmatic hernia / defect / agenesis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu recurvatum - Hallux valgus - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Scoliosis - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Cardiac valvulopathy - Chronic arterial hypertension - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Retinal detachment - Skin tumors / lumps / epidermal cysts		Very frequent - Autosomal recessive inheritance - Coloboma of iris - Corpus callosum / septum pellucidum total / partial agenesis - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Retinoschisis / retinal / chorioretinal coloboma - Short foot / brachydactyly of toes - Short hand / brachydactyly Frequent - Beaked nose - Coarse face - Dolichocephaly / scaphocephaly - Genu varum - Long face - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Clinodactyly of fifth finger - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - High vaulted / narrow palate - Telecanthus / canthal dystopy - Thick lips