ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Hypotonia - cystinuria syndrome

Autosomal recessive limb girdle muscular dystrophy type 2A

PREPL	(UniProt - OMIM)		CAPN3	(UniProt - OMIM)
SLC3A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PREPL	(0.63)	CAPN3

Citations in the biomedical literature:

Hypotonia - cystinuria syndrome		Autosomal recessive limb girdle muscular dystrophy type 2A
	Synonym(s): - HCS		Synonym(s): - LGMD2A - Limb girdle muscular dystrophy due to calpain deficiency - Primary calpainopathy

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 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 - No MeSH references

Hypotonia - cystinuria syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Bulimia / hyperphagia - Dolichocephaly / scaphocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Fetal immobility / abnormal fetal movements - Hypotonia - Ptosis - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Asthenia / fatigue / weakness - Epicanthic folds - Frontal bossing / prominent forehead - Micrognathia / retrognathia / micrognathism / retrognathism
Autosomal recessive limb girdle muscular dystrophy type 2A
(no data available)