ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
37 signs/symptoms

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Sanjad-Sakati syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PYGL	(0.63)	TBCE

Citations in the biomedical literature:

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Sanjad-Sakati syndrome
	Synonym(s): - GSD due to liver glycogen phosphorylase deficiency - GSD type 6B - Glycogen storage disease type 6B - Glycogenosis due to liver glycogen phosphorylase deficiency - Glycogenosis type 6B - Hepatic glycogen phosphorylase deficiency - Hepatic phosphorylase deficiency - Hers disease - Liver glycogen phosphorylase deficiency		Synonym(s): - HRD syndrome - Hypoparathyroidism - intellectual deficit - dysmorphism - Hypoparathyroidism - short stature - intellectual deficit - seizures - Middle-East syndrome - Richadson-Kirk syndrome - SSS

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - 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: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Short stature / dwarfism / nanism

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Sanjad-Sakati syndrome
	Very frequent - Hypoglycemia - Storage liver disease		Very frequent - Beaked nose - Deepset eyes / enophthalmos - Delayed bone age - Depressed nasal bridge - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hyperphosphtemia - Hypocalcemia - Hypoparathyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Long philtrum - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus - Small foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Astigmatism - Corneal clouding / opacity / vascularisation - Dilated cerebral ventricles without hydrocephaly - Intestinal obstruction / ileus - Micropenis / small penis / agenesis - Myopathy - Osteosclerosis / osteopetrosis / bone condensation - Rachidian / spine canal stenosis - T-cell deficiency / cellular immunity deficiency - Undescended / ectopic testes / cryptorchidia / unfixed testes