ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Acromegaloid facial appearance syndrome

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ABCC9	(0.73)	LDHA

Citations in the biomedical literature:

Acromegaloid facial appearance syndrome		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
	Synonym(s): (no synonyms)		Synonym(s): - GSD due to lactate dehydrogenase M-subunit deficiency - GSD type 11 - Glycogen storage disease type 11 - Glycogenosis due to lactate dehydrogenase M-subunit deficiency - Glycogenosis type 11 - LDH-M subunit deficiency - Lactate dehydrogenase A deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535655		External references: 1 OMIM reference - No MeSH references

Acromegaloid facial appearance syndrome
	Very frequent - Autosomal dominant inheritance - Blepharophimosis / short palpebral fissures - Coarse face - Flared / thick ala nasi - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Large hand - Long / large / bulbous nose - Macroglossia / tongue protrusion / proeminent / hypertrophic - Protruding lips - Puffy eyelids - Thick lips - Thickened / hypertrophic / fibromatous gingivae Frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - High arched eyebrows - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Sloping forehead - Synophris / synophrys - Thick skin / pachydermia / orange skin - Thick / bushy eyebrows Occasional - Seizures / epilepsy / absences / spasms / status epilepticus - Tapered fingers
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
(no data available)