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1 OMIM reference -
1 associated gene
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Spondylometaphyseal dysplasia - cone-rod dystrophy
Griscelli disease type 1

PCYT1A MYO5A


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
PCYT1A
Griscelli disease type 1
MYO5A



Spondylometaphyseal dysplasia - cone-rod dystrophy
Griscelli disease type 1

Synonym(s):
- SMD-CRD

Synonym(s):
- Griscelli-Pruniéras syndrome type 1
- Hypopigmentation - neurologic impairment

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: C537301


COMMON
SIGNS
- Nystagmus


Spondylometaphyseal dysplasia - cone-rod dystrophy
Griscelli disease type 1

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
- Photophobia
- Rib structure anomalies
- Scoliosis
- Visual loss / blindness / amblyopia

Occasional
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly


Very frequent
- Albinism (hair)
- Ataxia / incoordination / trouble of the equilibrium
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Hypertonia / spasticity / rigidity / stiffness
- Iris albinism / ocular albinism
- Movement disorder
- Premature greying of hair
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Occasional
- Intracranial / cerebral calcifications