MRX3
MCID: MTH079
MIFTS: 45

Methylmalonic Acidemia and Homocysteinemia, Cblx Type (MRX3)

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

Aliases & Classifications for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

MalaCards integrated aliases for Methylmalonic Acidemia and Homocysteinemia, Cblx Type:

Name: Methylmalonic Acidemia and Homocysteinemia, Cblx Type 57 20
Mental Retardation, X-Linked 3 57 12 72 29 13 70
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblx 12 20 58
Methylmalonic Aciduria with Homocystinuria, Type Cblx 12 20 58
Methylmalonic Acidemia with Homocystinuria, Type Cblx 20 58
Methylmalonic Acidemia and Homocysteinemia Cblx Type 12 15
Mental Retardation 3, X-Linked 29 6
Mrx3 57 72
Methylmalonic Acidemia and Homocysteinemia Type Cblx 20
Mental Retardation Non-Syndromic X-Linked 3 72
Mental Retardation, X-Linked 3; Mrx3 57
Mental Retardation, X-Linked, Type 3 39
Intellectual Disability, X-Linked 3 20

Characteristics:

Orphanet epidemiological data:

58
methylmalonic acidemia with homocystinuria, type cblx
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset in infancy

Inheritance:
x-linked recessive


HPO:

31
methylmalonic acidemia and homocysteinemia, cblx type:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111814
OMIM® 57 309541
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901
ICD10 via Orphanet 33 E71.1
Orphanet 58 ORPHA369962
MedGen 41 C0796208
UMLS 70 C0796208

Summaries for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked 3: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Methylmalonic Acidemia and Homocysteinemia, Cblx Type, also known as mental retardation, x-linked 3, is related to methylmalonic aciduria and homocystinuria, cblc type and ohdo syndrome, sbbys variant. An important gene associated with Methylmalonic Acidemia and Homocysteinemia, Cblx Type is HCFC1 (Host Cell Factor C1), and among its related pathways/superpathways are Neural Crest Differentiation and Cobalamin (Cbl, vitamin B12) transport and metabolism. Related phenotypes are chorea and athetosis

Disease Ontology : 12 A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has material basis in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28.

OMIM® : 57 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 and choreoathetosis (summary by Yu et al., 2013). (309541) (Updated 05-Apr-2021)

Related Diseases for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Diseases related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cblc type 10.2 MTR MMACHC HCFC1
2 ohdo syndrome, sbbys variant 10.2 KAT6B CFC1B
3 disorders of intracellular cobalamin metabolism 10.1 THAP11 MTR MMACHC HCFC1
4 adhesions of uterus 10.1 POU5F1 KDM6A
5 kbg syndrome 10.0 KMT2D KDM6A KAT6B
6 synovial chondromatosis 10.0 GLI3 COL2A1
7 sudden sensorineural hearing loss 10.0 MTR MTHFR
8 non-syndromic x-linked intellectual disability 2 10.0
9 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 9.9 MTR MTHFR
10 methotrexate toxicity 9.9 MTR MTHFR
11 kleefstra syndrome 9.9 KMT2D KDM6A H3-2
12 intracranial vasospasm 9.9 MTR MTHFR
13 sotos syndrome 1 9.9 KMT2D KDM6A H3-2
14 methylmalonic acidemia 9.9 MTR MTHFR MMACHC
15 weaver syndrome 9.9 KMT2D KDM6A H3-2
16 vitamin metabolic disorder 9.9 MTR MTHFR MMACHC
17 vitamin b12 deficiency 9.9 MTR MTHFR MMACHC
18 choline deficiency disease 9.9 MTHFR BHMT MTR
19 kabuki syndrome 1 9.8 KMT2D KDM6A HCFC1 H3-2
20 megaloblastic anemia 9.8 MTR MTHFR MMACHC
21 cutis laxa, autosomal dominant 3 9.8 MTR MTHFR
22 chromosome 16p13.3 deletion syndrome, proximal 9.8 KMT2D KDM6A KAT6B H3-2
23 homocysteinemia 9.7 MTR MTHFR MMACHC BHMT
24 amino acid metabolic disorder 9.7 MTR MTHFR MMACHC BHMT
25 homocystinuria 9.7 MTR MTHFR MMACHC BHMT
26 marfan syndrome 9.7 MTR MTHFR COL2A1
27 clubfoot 9.7 MTHFR KAT6B COL2A1
28 cutis laxa, autosomal dominant 2 9.6 MTR MTHFR
29 charge syndrome 9.6 SOX10 KMT2D KDM6A GLI3
30 physical disorder 9.6 MTR MTHFR GLI3
31 tetralogy of fallot 9.4 NOTCH2 MTHFR KMT2D CFC1B CFC1
32 orofacial cleft 9.2 SOX10 MTHFR GLI3 COL2A1 BHMT
33 cleft palate, isolated 9.2 SOX10 MTHFR GLI3 COL2A1
34 skin carcinoma 9.1 SOX10 POU5F1 NOTCH2 H3-2 GLI3
35 medulloblastoma 9.0 POU5F1 NOTCH2 KMT2D KDM6A GLI3
36 disease of mental health 8.3 SOX10 POU5F1 MTR MTHFR KMT2D KDM6A

Graphical network of the top 20 diseases related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type:



Diseases related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Symptoms & Phenotypes for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Human phenotypes related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 chorea 31 occasional (7.5%) HP:0002072
2 athetosis 31 occasional (7.5%) HP:0002305
3 homocystinuria 31 occasional (7.5%) HP:0002156
4 intellectual disability 31 HP:0001249
5 failure to thrive 31 HP:0001508
6 microcephaly 31 HP:0000252
7 short stature 31 HP:0004322
8 brachycephaly 31 HP:0000248
9 methylmalonic aciduria 31 HP:0012120
10 generalized hypotonia 31 HP:0001290
11 methylmalonic acidemia 31 HP:0002912
12 hypsarrhythmia 31 HP:0002521
13 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Neurologic Central Nervous System:
hypsarrhythmia
hypotonia
mental retardation
seizures, intractable
severely delayed psychomotor development
more
Head And Neck Head:
microcephaly
brachycephaly

Laboratory Abnormalities:
methylmalonic aciduria
methylmalonic acidemia
homocystinuria (in some patients)
homocysteinemia (in some patients)

Clinical features from OMIM®:

309541 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 ADAR COL2A1 GLI3 HCFC1 KDM6A KMT2D
2 embryo MP:0005380 10.18 ADAR CFC1B COL2A1 GLI3 HCFC1 KDM6A
3 growth/size/body region MP:0005378 10.18 ADAR BHMT CFC1B COL2A1 GLI3 HCFC1
4 mortality/aging MP:0010768 10.13 ADAR CENPT CFC1B COL2A1 GLI3 HCFC1
5 digestive/alimentary MP:0005381 9.98 CFC1B COL2A1 GLI3 MMACHC NOTCH2 POU5F1
6 liver/biliary system MP:0005370 9.92 ADAR BHMT CFC1B COL2A1 HCFC1 MTHFR
7 nervous system MP:0003631 9.9 ADAR BHMT COL2A1 GLI3 KDM6A KMT2D
8 respiratory system MP:0005388 9.56 CFC1B COL2A1 GLI3 KDM6A KMT2D MMACHC
9 skeleton MP:0005390 9.28 ADAR CFC1B COL2A1 GLI3 KDM6A KMT2D

Drugs & Therapeutics for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Search Clinical Trials , NIH Clinical Center for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Genetic Tests for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Genetic tests related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type:

# Genetic test Affiliating Genes
1 Mental Retardation 3, X-Linked 29 HCFC1
2 Mental Retardation, X-Linked 3 (methylmalonic Acidemia and Homocysteinemia, Cblx Type ) 29

Anatomical Context for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Publications for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Articles related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type:

(show all 15)
# Title Authors PMID Year
1
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 61 6 57
23000143 2012
2
Localisation of the MRX3 gene for non-specific X linked mental retardation. 61 57 6
1870093 1991
3
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. 6 57
24011988 2013
4
Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). 57
8826462 1996
5
Linkage to Xq28 in a family with nonspecific X-linked mental retardation. 57
1362558 1992
6
Non-specific X linked mental retardation. 57
1870094 1991
7
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. 57
2378346 1990
8
Corynebacterium glutamicum Mycoredoxin 3 protects against multiple oxidative stresses and displays thioredoxin-like activity. 61
33132239 2020
9
Mycoredoxins Are Required for Redox Homeostasis and Intracellular Survival in the Actinobacterial Pathogen Rhodococcus equi. 61
31731720 2019
10
Numerous microRNPs in neuronal cells containing novel microRNAs. 61
12554860 2003
11
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. 61
10232754 1999
12
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. 61
9222958 1997
13
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). 61
8826460 1996
14
Pericentromeric genes for non-specific X-linked mental retardation (MRX). 61
7943039 1994
15
Nomenclature guidelines for X-linked mental retardation. 61
1605216 1992

Variations for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

ClinVar genetic disease variations for Methylmalonic Acidemia and Homocysteinemia, Cblx Type:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HCFC1 NM_005334.3(HCFC1):c.-970T>C SNV Pathogenic 39694 rs398122908 GRCh37: X:153237261-153237261
GRCh38: X:153971810-153971810
2 HCFC1 NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) SNV Pathogenic 39695 rs318240758 GRCh37: X:153228714-153228714
GRCh38: X:153963263-153963263
3 HCFC1 NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) SNV Pathogenic 66984 rs397515485 GRCh37: X:153229734-153229734
GRCh38: X:153964283-153964283
4 HCFC1 NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) SNV Pathogenic 66986 rs397515487 GRCh37: X:153230154-153230154
GRCh38: X:153964703-153964703
5 HCFC1 NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) SNV Pathogenic 224121 rs869312686 GRCh37: X:153217504-153217504
GRCh38: X:153952053-153952053
6 HCFC1 NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) SNV Pathogenic 66985 rs397515486 GRCh37: X:153230153-153230153
GRCh38: X:153964702-153964702
7 THAP11 , CENPT NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) SNV Likely pathogenic 393304 rs188675529 GRCh37: 16:67876697-67876697
GRCh38: 16:67842794-67842794
8 HCFC1 NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) SNV Uncertain significance 547918 rs782138046 GRCh37: X:153219535-153219535
GRCh38: X:153954084-153954084
9 HCFC1 NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) SNV Uncertain significance 841564 GRCh37: X:153219221-153219221
GRCh38: X:153953770-153953770
10 HCFC1 NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) SNV Uncertain significance 657983 rs201578135 GRCh37: X:153220155-153220155
GRCh38: X:153954704-153954704
11 HCFC1 NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) SNV Uncertain significance 660070 rs782313635 GRCh37: X:153218092-153218092
GRCh38: X:153952641-153952641
12 HCFC1 NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) SNV Uncertain significance 665928 rs1557113656 GRCh37: X:153219741-153219741
GRCh38: X:153954290-153954290
13 HCFC1 NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) SNV Uncertain significance 654790 rs1004412459 GRCh37: X:153219608-153219608
GRCh38: X:153954157-153954157
14 HCFC1 NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) SNV Uncertain significance 954742 GRCh37: X:153218387-153218387
GRCh38: X:153952936-153952936
15 HCFC1 NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) SNV Uncertain significance 955464 GRCh37: X:153225388-153225388
GRCh38: X:153959937-153959937
16 HCFC1 NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) SNV Uncertain significance 958252 GRCh37: X:153218174-153218174
GRCh38: X:153952723-153952723
17 HCFC1 NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) Indel Uncertain significance 964915 GRCh37: X:153236219-153236219
GRCh38: X:153970768-153970768
18 HCFC1 NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) SNV Uncertain significance 972459 GRCh37: X:153216895-153216895
GRCh38: X:153951444-153951444
19 HCFC1 NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) SNV Uncertain significance 972470 GRCh37: X:153218117-153218117
GRCh38: X:153952666-153952666
20 HCFC1 NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) SNV Uncertain significance 996831 GRCh37: X:153220593-153220593
GRCh38: X:153955142-153955142
21 HCFC1 NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) SNV Uncertain significance 996880 GRCh37: X:153220120-153220120
GRCh38: X:153954669-153954669
22 HCFC1 NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) SNV Uncertain significance 235900 rs782010359 GRCh37: X:153225268-153225268
GRCh38: X:153959817-153959817
23 HCFC1 NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) SNV Uncertain significance 574385 rs782364666 GRCh37: X:153225270-153225270
GRCh38: X:153959819-153959819
24 HCFC1 NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) SNV Uncertain significance 582050 rs781783048 GRCh37: X:153219697-153219697
GRCh38: X:153954246-153954246
25 HCFC1 NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) SNV Uncertain significance 982980 GRCh37: X:153225740-153225740
GRCh38: X:153960289-153960289
26 HCFC1 NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) SNV Uncertain significance 439784 rs782652831 GRCh37: X:153218331-153218331
GRCh38: X:153952880-153952880
27 HCFC1 NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) SNV Uncertain significance 858370 GRCh37: X:153220441-153220441
GRCh38: X:153954990-153954990
28 HCFC1 NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) SNV Uncertain significance 862802 GRCh37: X:153217143-153217143
GRCh38: X:153951692-153951692
29 HCFC1 NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) SNV Uncertain significance 959096 GRCh37: X:153220533-153220533
GRCh38: X:153955082-153955082
30 HCFC1 NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del) Microsatellite Uncertain significance 663381 rs782769309 GRCh37: X:153216922-153216924
GRCh38: X:153951471-153951473
31 HCFC1 NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) SNV Uncertain significance 425515 rs200053475 GRCh37: X:153222085-153222085
GRCh38: X:153956634-153956634
32 HCFC1 NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) Deletion Uncertain significance 503794 rs1275942023 GRCh37: X:153217564-153217569
GRCh38: X:153952113-153952118
33 HCFC1 NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) SNV Uncertain significance 1005946 GRCh37: X:153216850-153216850
GRCh38: X:153951399-153951399
34 HCFC1 NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) SNV Uncertain significance 663515 rs782473277 GRCh37: X:153220287-153220287
GRCh38: X:153954836-153954836
35 HCFC1 NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) SNV Uncertain significance 841571 GRCh37: X:153220355-153220355
GRCh38: X:153954904-153954904
36 HCFC1 NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) SNV Uncertain significance 936621 GRCh37: X:153219132-153219132
GRCh38: X:153953681-153953681
37 HCFC1 NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) SNV Uncertain significance 951656 GRCh37: X:153224134-153224134
GRCh38: X:153958683-153958683
38 HCFC1 NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) SNV Uncertain significance 450155 rs781949446 GRCh37: X:153219958-153219958
GRCh38: X:153954507-153954507
39 HCFC1 NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) SNV Uncertain significance 1020996 GRCh37: X:153216898-153216898
GRCh38: X:153951447-153951447
40 HCFC1 NM_005334.3(HCFC1):c.905-3C>T SNV Uncertain significance 211137 rs200367055 GRCh37: X:153225868-153225868
GRCh38: X:153960417-153960417
41 HCFC1 NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) SNV Uncertain significance 1026537 GRCh37: X:153218220-153218220
GRCh38: X:153952769-153952769
42 HCFC1 NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) SNV Uncertain significance 835995 GRCh37: X:153225299-153225299
GRCh38: X:153959848-153959848
43 HCFC1 NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) SNV Uncertain significance 854758 GRCh37: X:153221830-153221830
GRCh38: X:153956379-153956379
44 HCFC1 NM_005334.3(HCFC1):c.712+6C>T SNV Uncertain significance 956106 GRCh37: X:153228670-153228670
GRCh38: X:153963219-153963219
45 HCFC1 NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) SNV Uncertain significance 1028361 GRCh37: X:153224126-153224126
GRCh38: X:153958675-153958675
46 HCFC1 NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) SNV Uncertain significance 1028362 GRCh37: X:153220176-153220176
GRCh38: X:153954725-153954725
47 HCFC1 NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) SNV Uncertain significance 1028363 GRCh37: X:153219559-153219559
GRCh38: X:153954108-153954108
48 HCFC1 NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) SNV Uncertain significance 1028364 GRCh37: X:153217499-153217499
GRCh38: X:153952048-153952048
49 HCFC1 NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) SNV Uncertain significance 1028365 GRCh37: X:153216269-153216269
GRCh38: X:153950818-153950818
50 HCFC1 NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) SNV Uncertain significance 1032310 GRCh37: X:153218341-153218341
GRCh38: X:153952890-153952890

UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Acidemia and Homocysteinemia, Cblx Type:

72
# Symbol AA change Variation ID SNP ID
1 HCFC1 p.Ser225Asn VAR_069098 rs318240758

Expression for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Search GEO for disease gene expression data for Methylmalonic Acidemia and Homocysteinemia, Cblx Type.

Pathways for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Pathways related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 SOX10 NOTCH2 COL2A1
2 10.28 MTR MMACHC

GO Terms for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Cellular components related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 THAP11 SOX10 POU5F1 PHC3 NOTCH2 KMT2D
2 MLL3/4 complex GO:0044666 9.16 KMT2D KDM6A
3 histone methyltransferase complex GO:0035097 8.8 KMT2D KDM6A HCFC1

Biological processes related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 SOX10 POU5F1 KMT2D KAT6B HCFC1 GLI3
2 regulation of transcription, DNA-templated GO:0006355 10.02 SOX10 POU5F1 NOTCH2 KMT2D KAT6B HCFC1
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 THAP11 SOX10 POU5F1 NOTCH2 HCFC1 GLI3
4 regulation of gene expression GO:0010468 9.85 POU5F1 KDM6A GLI3 COL2A1
5 chromatin organization GO:0006325 9.81 KMT2D KDM6A KAT6B HCFC1
6 heart development GO:0007507 9.73 KDM6A GLI3 CFC1B CFC1
7 anterior/posterior pattern specification GO:0009952 9.67 GLI3 CFC1B CFC1
8 in utero embryonic development GO:0001701 9.62 SOX10 NOTCH2 KDM6A GLI3
9 histone H3-K4 methylation GO:0051568 9.57 KMT2D KDM6A
10 positive regulation of neuroblast proliferation GO:0002052 9.56 SOX10 GLI3
11 melanocyte differentiation GO:0030318 9.54 SOX10 GLI3
12 determination of left/right symmetry GO:0007368 9.54 NOTCH2 CFC1B CFC1
13 cobalamin metabolic process GO:0009235 9.52 MTR MMACHC
14 anatomical structure development GO:0048856 9.43 GLI3 CFC1B CFC1
15 nodal signaling pathway GO:0038092 9.4 CFC1B CFC1
16 S-adenosylmethionine metabolic process GO:0046500 9.16 MTHFR BHMT
17 sulfur amino acid metabolic process GO:0000096 8.96 MTR BHMT
18 methionine biosynthetic process GO:0009086 8.8 MTR MTHFR BHMT

Molecular functions related to Methylmalonic Acidemia and Homocysteinemia, Cblx Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.32 THAP11 SOX10 POU5F1 PHC3 KMT2D KAT6B
2 cobalamin binding GO:0031419 9.26 MTR MMACHC
3 nodal binding GO:0038100 9.16 CFC1B CFC1
4 activin receptor binding GO:0070697 8.96 CFC1B CFC1

Sources for Methylmalonic Acidemia and Homocysteinemia, Cblx Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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