ODCs

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
40 signs/symptoms

Glycogen storage disease due to liver phosphorylase kinase deficiency

3M syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG2	(0.63)	CCDC8

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		3M 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): - 3-M syndrome - Dolichospondylic dysplasia - Gloomy face syndrome - Le Merrer syndrome - Yakut short stature syndrome

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

	External references: 2 OMIM references - No MeSH references		External references: 3 OMIM references - No MeSH references

3M syndrome
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Broad forehead - Delayed bone age - Frontal bossing / prominent forehead - Intrauterine growth retardation - Long / large / bulbous nose - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Pes talus - Protruding lips - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Short neck - Short stature / dwarfism / nanism - Thick / bushy eyebrows - Triangular face Frequent - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dolichocephaly / scaphocephaly - Elbow anomalies(excluding luxation) - Enamel anomaly - Hyperextensible joints / articular hyperlaxity - Long philtrum - Lordosis - Pointed chin - Prominent / bat ears - Rib structure anomalies - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Wide rib cage / thorax Occasional - Cerebral vascular anomalies - Clinodactyly of fifth finger - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypospadias / epispadias / bent penis - Kyphosis - Scoliosis - Sterility / hypofertility
Glycogen storage disease due to liver phosphorylase kinase deficiency
(no data available)