Multiple mitochondrial dysfunctions syndrome 3

Preferred Label : Multiple mitochondrial dysfunctions syndrome 3;

Symbol : MMDS3;

CISMeF acronym : MMDS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the iron-sulfur cluster assembly factor IBA57 gene (IBA57, 615316.0001);

Laboratory abnormalities : Increased serum and CSF glycine; Increased serum and CSF lactate;

Prefixed ID : #615330;

Details

Origin ID

615330;

UMLS CUI

C3809165;

Currated CISMeF NLP mapping
- Multiple mitochondrial dysfunctions syndrome type 3 [ORDO Disease]
- Multiple mitochondrial dysfunctions syndrome type 3 (disorder) [SNOMED CT concept]
- multiple mitochondrial dysfunctions syndrome 3 [DO Concept]
DO Cross reference
- multiple mitochondrial dysfunctions syndrome 3 [DO Concept]
Genes related to phenotype
- Iron-sulfur cluster assembly factor iba57 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormality of mitochondrial metabolism [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cognitive impairment [HPO term]
- Congenital onset [HPO term]
- Developmental regression [HPO term]
- Edema [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- High palate [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intrauterine growth retardation [HPO term]
- Irritability [HPO term]
- Lactic acidosis [HPO term]
- Leukodystrophy [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Polyhydramnios [HPO term]
- Polymicrogyria [HPO term]
- Progressive [HPO term]
- Recurrent fever [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Spastic tetraplegia [HPO term]
- Variable expressivity [HPO term]
- Visual impairment [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Multiple mitochondrial dysfunctions syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple Mitochondrial Dysfunctions Syndrome Type 3 [NCIt concept]
- Multiple mitochondrial dysfunctions syndrome type 3 (disorder) [SNOMED CT concept]
- multiple mitochondrial dysfunctions syndrome 3 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients