Multiple carboxylase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MCD
Number of Symptoms 16
OrphanetNr: 148
OMIM Id:
ICD-10: E53.8
UMLs: C0026755
MeSH: D009100
MedDRA: 10028176
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Classic organic aciduria
 -Rare genetic disease
Metabolic disease with skin involvement
 -Rare genetic disease
 -Rare skin disease
Other metabolic disease with skin involvement
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
2
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
3
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
4
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
5
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
6
 (HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
7
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
8
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
9
 (HPO:0010720) Abnormal hair pattern Very frequent [Orphanet] 14 / 7739
10
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
11
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
12
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
13
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
14
 (HPO:0002715) Abnormality of the immune system Very frequent [Orphanet] 46 / 7739
15
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: