MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: MMDS2
Number of Symptoms 19
OrphanetNr:
OMIM Id: 614299
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001254) Lethargy 104 / 7739
2
(HPO:0200134) Epileptic encephalopathy 42 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0002013) Vomiting 191 / 7739
6
(HPO:0002240) Hepatomegaly 467 / 7739
7
(HPO:0001644) Dilated cardiomyopathy 141 / 7739
8
(HPO:0003128) Lactic acidosis 116 / 7739
9
(HPO:0008972) Decreased activity of mitochondrial respiratory chain 34 / 7739
10
(HPO:0002878) Respiratory failure 57 / 7739
11
(HPO:0002093) Respiratory insufficiency 410 / 7739
12
(HPO:0001324) Muscle weakness 859 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Increased urinary 2-hydroxybutyrate 2 / 7739
15
(OMIM) Increased serum glycine, leucine, isoleucine, valine 2 / 7739
16
(OMIM) Decreased activity of pyruvate dehydrogenase complex 2 / 7739
17
(OMIM) Increased serum and urinary lactate 2 / 7739
18
(HPO:0001522) Death in infancy 275 / 7739
19
(OMIM) Decreased activity of 2-oxoacid dehydrogenases 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Seyda et al. (2001) reported a male infant, born of first-cousin East Indian parents, who developed epileptic seizures associated with elevated levels of serum glycine and cerebrospinal fluid (CSF) glycine at age 4 months. At age 6 months, ...
Molecular genetics OMIM In the East Indian patient with MMDS2 reported by Seyda et al. (2001), Cameron et al. (2011) identified a homozygous truncating mutation in the BOLA3 gene (613183.0001). Transduction of fibroblast lines with retroviral vectors expressing the mitochondrial, but ...