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1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

IGBP1 PYGM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGBP1
(0.63)
PYGM



Citations in the biomedical literature:


Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
IGBP1
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
PYGM



Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Synonym(s):
- Graham-Cox syndrome

Synonym(s):
- GSD due to muscle glycogen phosphorylase deficiency
- GSD type 5
- Glycogen storage disease type 5
- Glycogenosis due to muscle glycogen phosphorylase deficiency
- Glycogenosis type 5
- McArdle disease
- Myophosphorylase deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic 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: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537276 / D006012

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Very frequent
- Anomalies of ear and hearing
- Conductive deafness / hearing loss
- Corpus callosum / septum pellucidum total / partial agenesis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Pectus excavatum
- Scoliosis
- Sensorineural deafness / hearing loss
- Short neck
- Short stature / dwarfism / nanism
- X-linked recessive inheritance

Frequent
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- High nasal bridge
- High vaulted / narrow palate
- Patent ductus arteriosus
- Ventricular septal defect / interventricular communication



Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance

Frequent
- Myopathy

Occasional
- Renal failure
- Structural anomalies of the cardio-circulatory system