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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Temtamy syndrome
1 OMIM reference -
1 associated gene
26 signs/symptoms
Osteogenesis imperfecta type 4
Temtamy syndrome

COL1A1
(UniProt - OMIM)
 C12ORF57
(UniProt - OMIM)
COL1A2
(UniProt - OMIM)
CRTAP
(UniProt - OMIM)
PPIB
(UniProt - OMIM)
SP7
(UniProt - OMIM)
TMEM38B
(UniProt - OMIM)
WNT1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Temtamy syndrome
C12ORF57



Osteogenesis imperfecta type 4
Temtamy syndrome

Synonym(s):
- OI type 4
Synonym(s):
- Craniofacial dysmorphism - coloboma - corpus callosum agenesis
- Temtamy-Shalash syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic 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: unknown
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:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
1 MeSH reference: C536959
Temtamy syndrome

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
- Aortic dilatation / dilation
- Beaked nose
- Coarse face
- Dolichocephaly / scaphocephaly
- Flat foot
- 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
- Hyperextensible joints / articular hyperlaxity
- Telecanthus / canthal dystopy
- Thick lips


Osteogenesis imperfecta type 4

(no data available)