ODCs

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Spondylometaphyseal dysplasia - cone-rod dystrophy

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Papillon-LefÃ¨vre syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Spondylometaphyseal dysplasia - cone-rod dystrophy

Papillon-LefÃ¨vre syndrome

PCYT1A

(UniProt - OMIM)

CTSC

(UniProt - OMIM)


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

Citations in the biomedical literature:

Spondylometaphyseal dysplasia - cone-rod dystrophy		Papillon-LefÃ¨vre syndrome
	Synonym(s): - SMD-CRD		Synonym(s): - Keratosis palmoplantar - periodontopathy - PLS

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D010214

Spondylometaphyseal dysplasia - cone-rod dystrophy		Papillon-LefÃ¨vre syndrome
	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 - Alveolysis / paraodontitis - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Autosomal recessive inheritance - Dysplastic / thick / grooved fingernails - Gingivitis - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Premature lost of decidious teeth - Pustula / pustulosis Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Intracranial / cerebral calcifications - Nails anomalies - Repeat respiratory infections - Thin / hypoplastic / hyperconvex fingernails Occasional - Anomalies of spine, vertebrae and pelvis - Decreased body hair / axillar / pubic hairlessness - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hirsutism / hypertrichosis / Increased body hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Irregular / patchy skin hypopigmentation - Liver / hepatic abscess - Long hand / arachnodactyly - Melanoma - Osteolysis / osteoclasia / bone destruction / erosions - Skin tumors / lumps / epidermal cysts