MCID: MTH051
MIFTS: 24

Methylmalonic Aciduria and Homocystinuria, Cblj Type

Categories: Genetic diseases, Metabolic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria, Cblj Type

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria, Cblj Type:

Name: Methylmalonic Aciduria and Homocystinuria, Cblj Type 57 29 13 6 73
Mahcj 57 75
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblj 59
Aciduria, Methylmalonic, and Homocystinuria, Cblj Type 40
Methylmalonic Acidemia with Homocystinuria, Type Cblj 59
Methylmalonic Aciduria with Homocystinuria, Type Cblj 59
Methylmalonic Aciduria and Homocystinuria Type Cblj 75
Cobalamin J Defect 59
Cblj Defects 59

Characteristics:

Orphanet epidemiological data:

59
methylmalonic acidemia with homocystinuria, type cblj
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two unrelated patients have been reported (last curated october 2012)


HPO:

32
methylmalonic aciduria and homocystinuria, cblj type:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Methylmalonic Aciduria and Homocystinuria, Cblj Type

OMIM : 57 Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF; 277380) (summary by Coelho et al., 2012). (614857)

MalaCards based summary : Methylmalonic Aciduria and Homocystinuria, Cblj Type, also known as mahcj, is related to methylmalonic acidemia with homocystinuria type cblj and methylmalonic aciduria and homocystinuria, cblf type, and has symptoms including lethargy An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblj Type is ABCD4 (ATP Binding Cassette Subfamily D Member 4). Related phenotypes are hypertelorism and inguinal hernia

UniProtKB/Swiss-Prot : 75 Methylmalonic aciduria and homocystinuria type cblJ: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay.

Related Diseases for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Diseases related to Methylmalonic Aciduria and Homocystinuria, Cblj Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria type cblj 11.6
2 methylmalonic aciduria and homocystinuria, cblf type 10.9
3 methylmalonic aciduria and homocystinuria, cbld type 10.9

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
inguinal hernia

Neurologic Central Nervous System:
lethargy
abnormal posturing
delayed psychomotor development (1 patient)
cerebral atrophy (1 patient)

Laboratory Abnormalities:
methylmalonic aciduria
homocystinuria
homocystinemia
methylmalonic acidemia
decreased adenosylcobalamin (adocbl)
more
Abdomen Gastrointestinal:
poor feeding
gastroesophageal reflux (1 patient)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (1 patient)

Head And Neck Eyes:
hypertelorism (1 patient)

Cardiovascular Vascular:
pulmonary hypertension (1 patient)

Hematology:
anemia
thrombocytopenia
neutropenia

Respiratory:
tachypnea
breathing difficulties in the neonatal period

Muscle Soft Tissue:
hypotonia

Growth Other:
poor growth

Cardiovascular Heart:
atrial septal defect (1 patient)
coarctation of the aorta (1 patient)
enlarged right ventricle (1 patient)
small left ventricle (1 patient)

Head And Neck Face:
micrognathia (1 patient)

Chest Breasts:
widely spaced nipples (1 patient)


Clinical features from OMIM:

614857

Human phenotypes related to Methylmalonic Aciduria and Homocystinuria, Cblj Type:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 inguinal hernia 32 HP:0000023
3 global developmental delay 32 occasional (7.5%) HP:0001263
4 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
5 anemia 32 HP:0001903
6 micrognathia 32 occasional (7.5%) HP:0000347
7 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
8 feeding difficulties 32 HP:0011968
9 cryptorchidism 32 occasional (7.5%) HP:0000028
10 growth delay 32 HP:0001510
11 wide intermamillary distance 32 occasional (7.5%) HP:0006610
12 atrial septal defect 32 occasional (7.5%) HP:0001631
13 coarctation of aorta 32 occasional (7.5%) HP:0001680
14 thrombocytopenia 32 HP:0001873
15 neutropenia 32 HP:0001875
16 lethargy 32 HP:0001254
17 cerebral atrophy 32 occasional (7.5%) HP:0002059
18 tachypnea 32 HP:0002789
19 methylmalonic aciduria 32 HP:0012120
20 generalized hypotonia 32 HP:0001290
21 abnormal posturing 32 HP:0002533
22 decreased methylcobalamin 32 occasional (7.5%) HP:0003223
23 homocystinuria 32 HP:0002156
24 hyperhomocystinemia 32 HP:0002160
25 methylmalonic acidemia 32 HP:0002912
26 decreased methionine synthase activity 32 occasional (7.5%) HP:0003524
27 decreased adenosylcobalamin 32 HP:0003145

UMLS symptoms related to Methylmalonic Aciduria and Homocystinuria, Cblj Type:


lethargy

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Genetic Tests for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Genetic tests related to Methylmalonic Aciduria and Homocystinuria, Cblj Type:

# Genetic test Affiliating Genes
1 Methylmalonic Aciduria and Homocystinuria, Cblj Type 29 ABCD4

Anatomical Context for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Publications for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Variations for Methylmalonic Aciduria and Homocystinuria, Cblj Type

UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblj Type:

75
# Symbol AA change Variation ID SNP ID
1 ABCD4 p.Tyr319Cys VAR_069097 rs201777056

ClinVar genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblj Type:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCD4 NM_005050.3(ABCD4): c.956A> G (p.Tyr319Cys) single nucleotide variant Pathogenic rs201777056 GRCh37 Chromosome 14, 74759326: 74759326
2 ABCD4 NM_005050.3(ABCD4): c.956A> G (p.Tyr319Cys) single nucleotide variant Pathogenic rs201777056 GRCh38 Chromosome 14, 74292623: 74292623
3 ABCD4 NM_005050.3(ABCD4): c.1746_1747insCT (p.Glu583Leufs) insertion Pathogenic rs387907315 GRCh37 Chromosome 14, 74753409: 74753410
4 ABCD4 NM_005050.3(ABCD4): c.1746_1747insCT (p.Glu583Leufs) insertion Pathogenic rs387907315 GRCh38 Chromosome 14, 74286706: 74286707
5 ABCD4 ABCD4, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
6 ABCD4 ABCD4, 1456G-T single nucleotide variant Pathogenic
7 ABCD4 NM_005050.3(ABCD4): c.1736G> A (p.Arg579Gln) single nucleotide variant Benign/Likely benign rs143288344 GRCh37 Chromosome 14, 74753420: 74753420
8 ABCD4 NM_005050.3(ABCD4): c.1736G> A (p.Arg579Gln) single nucleotide variant Benign/Likely benign rs143288344 GRCh38 Chromosome 14, 74286717: 74286717
9 ABCD4 NM_005050.3(ABCD4): c.1042C> T (p.Arg348Trp) single nucleotide variant Benign rs147795328 GRCh37 Chromosome 14, 74759066: 74759066
10 ABCD4 NM_005050.3(ABCD4): c.1042C> T (p.Arg348Trp) single nucleotide variant Benign rs147795328 GRCh38 Chromosome 14, 74292363: 74292363
11 ABCD4 NM_005050.3(ABCD4): c.1049C> G (p.Thr350Arg) single nucleotide variant Benign rs35073715 GRCh37 Chromosome 14, 74759059: 74759059
12 ABCD4 NM_005050.3(ABCD4): c.1049C> G (p.Thr350Arg) single nucleotide variant Benign rs35073715 GRCh38 Chromosome 14, 74292356: 74292356
13 ABCD4 NM_005050.3(ABCD4): c.57A> G (p.Gln19=) single nucleotide variant Likely benign rs574817590 GRCh37 Chromosome 14, 74766953: 74766953
14 ABCD4 NM_005050.3(ABCD4): c.57A> G (p.Gln19=) single nucleotide variant Likely benign rs574817590 GRCh38 Chromosome 14, 74300250: 74300250
15 ABCD4 NM_005050.3(ABCD4): c.669-11_669-8delGGTC deletion Benign rs373949463 GRCh37 Chromosome 14, 74761909: 74761912
16 ABCD4 NM_005050.3(ABCD4): c.669-11_669-8delGGTC deletion Benign rs373949463 GRCh38 Chromosome 14, 74295206: 74295209

Expression for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria, Cblj Type.

Pathways for Methylmalonic Aciduria and Homocystinuria, Cblj Type

GO Terms for Methylmalonic Aciduria and Homocystinuria, Cblj Type

Sources for Methylmalonic Aciduria and Homocystinuria, Cblj Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....