ODCs

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1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
2 signs/symptoms

Spondylometaphyseal dysplasia - cone-rod dystrophy

Hereditary hyperferritinemia with congenital cataracts


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PCYT1A	(0.63)	FTL

Citations in the biomedical literature:

Spondylometaphyseal dysplasia - cone-rod dystrophy		Hereditary hyperferritinemia with congenital cataracts
	Synonym(s): - SMD-CRD		Synonym(s): - Bonneau-Beaumont syndrome - HHCS - Hereditary hyperferritinemia-cataract syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: no data available Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538137

Spondylometaphyseal dysplasia - cone-rod dystrophy		Hereditary hyperferritinemia with congenital cataracts
	Very frequent - Bowed diaphysis / diaphyses / long bones - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Platyspondyly - Retinitis pigmentosa / retinal pigmentary changes - Rhizomelic micromelia - Short stature / dwarfism / nanism Frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Astigmatism - Hypermetropia - Lordosis - Myopia - Nystagmus - Photophobia - Rib structure anomalies - Scoliosis - Visual loss / blindness / amblyopia Occasional - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly		Very frequent - Cataract / lens opacification - Metabolic anomalies