ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

Primary CD59 deficiency

X-linked creatine transporter deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CD59	(0.52)	SLC6A8

Citations in the biomedical literature:

Primary CD59 deficiency		X-linked creatine transporter deficiency
	Synonym(s): (no synonyms)		Synonym(s): - CRTR-D - X-linked intellectual deficit - seizures - short stature - midface hypoplasia

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		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 recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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

X-linked creatine transporter deficiency
	Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Metabolic anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance Frequent - Ataxia / incoordination / trouble of the equilibrium - Autism / autistic disoders - Constipation - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Dystonia / torticollis / writer's cramp / blepharospasms - Flat cheek bones / malar hypoplasia - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Intestinal obstruction / ileus - Mouth held open - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy Occasional - Expressionless face / amimia - Hyperextensible joints / articular hyperlaxity - Loose skin / skin relaxation / excess skin / creases - Microcephaly - Ptosis
Primary CD59 deficiency
(no data available)