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Glycogen storage disease due to liver phosphorylase kinase deficiency

2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Mosaic variegated aneuploidy syndrome

2 OMIM references -
4 associated genes
63 signs/symptoms

Glycogen storage disease due to liver phosphorylase kinase deficiency

Mosaic variegated aneuploidy syndrome

PHKA2	(UniProt - OMIM)	BUB1	(UniProt - OMIM)
PHKG2	(UniProt - OMIM)	BUB1B	(UniProt - OMIM)
		BUB3	(UniProt - OMIM)
		CEP57	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKA2	(0.63)	CEP57

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		Mosaic variegated aneuploidy syndrome
	Synonym(s): - GSD due to liver phosphorylase kinase deficiency - GSD type 9A - GSD type 9C - GSD type IXa - GSD type IXc - Glycogen storage disease type 9A - Glycogen storage disease type 9C - Glycogen storage disease type IXa - Glycogen storage disease type IXc - Glycogenosis due to liver phosphorylase kinase deficiency - Glycogenosis type 9A - Glycogenosis type 9C - Glycogenosis type IXa - Glycogenosis type IXc - XLG		Synonym(s): - Warburton-Anyane-Yeboa syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic 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: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536987

Mosaic variegated aneuploidy syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Ascitis - Autosomal recessive inheritance - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Dandy-Walker anomaly - Dilated cerebral ventricles without hydrocephaly - Epicanthic folds - Glaucoma - Increased nuchal translucency - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Polyhydramnios - Short stature / dwarfism / nanism Frequent - Anomalies of eyes and vision - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Triangular face Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Acute leukemia - Ambiguous genitalia - Anomalies of bones / skeletal anomalies - Anomalies of ear and hearing - Apnea / sleep apnea - Atrial septal defect / interauricular communication - Cafe-au-lait spot - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Colon neoplasm / tumor / carcinoma / cancer - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Digestive neoplasm / tumor / carcinoma / cancer - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Duodenal atresia / stenosis / megaduodenum - Early death / lethality - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Failure to thrive / difficulties for feeding in infancy / growth delay - Flattened nose - Frontal bossing / prominent forehead - High forehead - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypothyroidy - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Multicystic kidney / renal dysplasia - Myelodysplastic syndrome - Neoplasms / tumors - Nephroblastoma / Wilms tumor - Osteolysis / osteoclasia / bone destruction / erosions - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Polyposis of the bowel / colon / intestine - Seizures / epilepsy / absences / spasms / status epilepticus - Skull / cranial anomalies - Sloping forehead - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Upper limb segmental anomalies - Vaginal / vulvar neoplasm / tumor / carcinoma / cancer
Glycogen storage disease due to liver phosphorylase kinase deficiency
(no data available)