Methylmalonic acidemia with homocystinuria, type cblX

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED 3
MRX3
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
Methylmalonic aciduria with homocystinuria, type cblX
Number of Symptoms 21
OrphanetNr: 369962
OMIM Id: 309541
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Methylmalonic acidemia with homocystinuria
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012120) Methylmalonic aciduria 20 / 7739
2
 (HPO:0002156) Homocystinuria rare [HPO:skoehler] 12 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000248) Brachycephaly 222 / 7739
5
 (HPO:0002305) Athetosis rare [HPO:skoehler] 31 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0002521) Hypsarrhythmia 43 / 7739
8
 (HPO:0002072) Chorea rare [HPO:skoehler] 53 / 7739
9
 (HPO:0001508) Failure to thrive 454 / 7739
10
 (HPO:0004322) Short stature 1232 / 7739
11
 (HPO:0002912) Methylmalonic acidemia 14 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0010547) Muscle flaccidity 466 / 7739
16
 (HPO:0003593) Infantile onset 249 / 7739
17
 (HPO:0001417) X-linked inheritance 173 / 7739
18
 (OMIM) Intractable seizures 12 / 7739
19
 (OMIM) Homocysteinemia 2 / 7739
20
 (OMIM) Severely delayed psychomotor development 2 / 7739
21
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly ...
Clinical Description OMIM Gedeon et al. (1991) reported a large family with nonsyndromic X-linked mental retardation. Huang et al. (2012) reported follow-up of this family. Affected males were generally nondysmorphic, although some had mild features, such as small chin, high-arched palate, ...
Molecular genetics OMIM In affected members of the family with MRX3 originally reported by Gedeon et al. (1991), Huang et al. (2012) identified a 455A-G transition in the 5-prime untranslated region of the HCFC1 gene (300019.0001) that disrupted a binding site ...