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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Acromegaloid facial appearance syndrome

LDHA ABCC9


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
LDHA
Acromegaloid facial appearance syndrome
ABCC9



Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Acromegaloid facial appearance syndrome

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

Synonym(s):
(no synonyms)

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

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

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)