ODCs

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Spondylometaphyseal dysplasia - cone-rod dystrophy

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Neuroectodermal melanolysosomal disease

1 OMIM reference -
1 associated gene
20 signs/symptoms

Spondylometaphyseal dysplasia - cone-rod dystrophy

Neuroectodermal melanolysosomal disease

PCYT1A

(UniProt - OMIM)

MYO5A

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PCYT1A	(0.63)	MYO5A

Citations in the biomedical literature:

Spondylometaphyseal dysplasia - cone-rod dystrophy		Neuroectodermal melanolysosomal disease
	Synonym(s): - SMD-CRD		Synonym(s): - Elejalde disease - Elejalde syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin 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: no data available Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536203


COMMON SIGNS	- Myopia - Nystagmus

Spondylometaphyseal dysplasia - cone-rod dystrophy		Neuroectodermal melanolysosomal disease
	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 - Photophobia - Rib structure anomalies - Scoliosis - Visual loss / blindness / amblyopia Occasional - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly		Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder - Premature greying of hair - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Tremor Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Diffuse / generalised skin hyperpigmentation / melanoderma - Early death / lethality - Hypertonia / spasticity / rigidity / stiffness - Macular dystrophy / absence / hypoplasia of the macula - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Repeat respiratory infections - Strabismus / squint