ODCs

Click node...

1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Spondylometaphyseal dysplasia, Schmidt type

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

COL2A1	(UniProt - OMIM)		PKD1	(UniProt - OMIM)
			TSC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.75)	PKD1

Citations in the biomedical literature:

Spondylometaphyseal dysplasia, Schmidt type		Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
	Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type		Synonym(s): - Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal 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: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Autosomal dominant inheritance - Genu valgum - Kyphosis - Metaphyseal anomaly - Myopia - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
(no data available)