ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

6 OMIM references -
6 associated genes
24 signs/symptoms

6-pyruvoyl-tetrahydropterin synthase deficiency

Seckel syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTS	(0.63)	ATR

Citations in the biomedical literature:

6-pyruvoyl-tetrahydropterin synthase deficiency		Seckel syndrome
	Synonym(s): - Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535325		External references: 6 OMIM references - 1 MeSH reference: C537533

Seckel syndrome
	Very frequent - Abnormal / absent ossification - Autosomal recessive inheritance - Beaked nose - Clinodactyly of fifth finger - Craniostenosis / craniosynostosis / sutural synostosis - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Premature ageing - Short stature / dwarfism / nanism - Small / hypoplastic / adherent / absent ear lobe - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Frequent - Anodontia / oligodontia / hypodontia - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Enamel anomaly - Glaucoma - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Scoliosis
6-pyruvoyl-tetrahydropterin synthase deficiency
(no data available)