ODCs

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Cardiomyopathy - hypotonia - lactic acidosis

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

PROTEIN INTERACTIONS: 1

Wrinkly skin syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

Cardiomyopathy - hypotonia - lactic acidosis

Wrinkly skin syndrome

SLC25A3

(UniProt - OMIM)

ATP6V0A2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC25A3	(0.49)	ATP6V0A2

Citations in the biomedical literature:

Cardiomyopathy - hypotonia - lactic acidosis		Wrinkly skin syndrome
	Synonym(s): (no synonyms)		Synonym(s): - WSS - Wrinkled skin syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare surgical thoracic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536750

Wrinkly skin syndrome
	Very frequent - Autosomal recessive inheritance - Deep palmar creases - Loose skin / skin relaxation / excess skin / creases - Tight skin / lack of elasticity Frequent - Abnormal fat distribution / lipodystrophy - Alopecia - Anomalies of bones / skeletal anomalies - Brachycephaly / flat occiput - Chronic skin infection / ulcerations / ulcers / cancrum - Delayed dentition / eruption of teeth / lack of eruption of teeth - Depressed premaxillary region / midface - Dry / squaly skin / exfoliation - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Hair and scalp anomalies - Herniae - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Kyphosis - Microcephaly - Multiple caries - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Premature ageing - Tooth shape anomaly Occasional - Atrial septal defect / interauricular communication - Myopia - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Prominent occiput / occipital bossing - Retinitis pigmentosa / retinal pigmentary changes - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Upslanted palpebral fissures / mongoloid slanting palpebral fissures
Cardiomyopathy - hypotonia - lactic acidosis
(no data available)