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1 OMIM reference -
1 associated gene
37 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
4 signs/symptoms
Sanjad-Sakati syndrome
Glycogen storage disease due to liver glycogen phosphorylase deficiency

TBCE PYGL


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Sanjad-Sakati syndrome
TBCE
Glycogen storage disease due to liver glycogen phosphorylase deficiency
PYGL



Sanjad-Sakati syndrome
Glycogen storage disease due to 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

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

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

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

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: childhood
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


Sanjad-Sakati syndrome
Glycogen storage disease due to liver glycogen phosphorylase deficiency

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


Very frequent
- Hypoglycemia
- Storage liver disease