methylmalonic acidemia with homocystinuria, type cblJ
MONDO:0013925Mondo
Findings
No curated finding names methylmalonic acidemia with homocystinuria, type cblJ yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased total neutrophil countHPOHP:0001875
- 2 of 2 reported patients
- Elevated circulating propionylcarnitine concentrationHPOHP:0033443
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HomocystinuriaHPOHP:0002156
- 2 of 2 reported patients
- HyperhomocystinemiaHPOHP:0002160
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 2 of 2 reported patients
- Methylmalonic acidemiaHPOHP:0002912
- 1 of 1 reported patient
- Methylmalonic aciduriaHPOHP:0012120
- 2 of 2 reported patients
- Normochromic anemiaHPOHP:0001895
- 2 of 2 reported patients
Show the remaining 20
- Atrial septal defectHPOHP:0001631
- 1 of 2 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 1 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- Coarctation of aortaHPOHP:0001680
- 1 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCD4HGNC:68
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · ClinGen · Autosomal recessive · 2026
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: methylmalonic acidemia with homocystinuria, type cblJ
- Also called
- cblJ defectscobalamin J defectcombined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJmethylmalonic aciduria with homocystinuria, type cblJ