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Osteogenesis imperfecta type 2

4 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Arthrogryposis-like syndrome

1 OMIM reference -
1 associated gene
11 signs/symptoms

Osteogenesis imperfecta type 2

Arthrogryposis-like syndrome

COL1A1	(UniProt - OMIM)		FKBP10	(UniProt - OMIM)
COL1A2	(UniProt - OMIM)
CRTAP	(UniProt - OMIM)
LEPRE1	(UniProt - OMIM)
PPIB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LEPRE1	(0.63)	FKBP10

Citations in the biomedical literature:

Osteogenesis imperfecta type 2		Arthrogryposis-like syndrome
	Synonym(s): - Lethal osteogenesis imperfecta - OI type 2		Synonym(s): - Kuskokwim disease

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Arthrogryposis-like syndrome
	Very frequent - Abnormal gait - Autosomal recessive inheritance - Patella absent / abnormal (excluding luxation) - Restricted joint mobility / joint stiffness / ankylosis Frequent - Talipes-varus / metatarsal varus Occasional - Abnormal vertebral size / shape - Areflexia / hyporeflexia - Clavicle absent / abnormal - Pigmented naevi / naevus pigmentosus / lentigo - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Scoliosis
Osteogenesis imperfecta type 2
(no data available)