Methylmalonic acidemia without homocystinuria

General Information (adopted from Orphanet):

Synonyms, Signs: Methylmalonic aciduria without homocystinuria
Number of Symptoms 10
OrphanetNr: 293355
OMIM Id:
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Classic organic aciduria
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
3
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
4
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
5
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
6
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
7
 (HPO:0001944) Dehydration Frequent [Orphanet] 59 / 7739
8
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
9
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
10
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: