MONDO:0001071 |
MONDO:0001071
Disease Name: intellectual disability
Orphanet id: Orphanet:319658
All associated enzymes in DAR:
CYP2U1
DHX16
CBS
POLG
UFSP2
P4HTM
PDIA3
DHX30
TET3
ALG3
NAGLU
CHD3
SMPD1
DHX34
GCH1
CARNMT1
CYP27A1
ABCD1
CHD2
DDX54
INO80
PTPN4
DHX37
CBS |
P35520 |
4.2.1.22
|
R-HSA-1614603
R-HSA-1614603
Reactome Name: Cysteine formation from homocysteine
See in Reactome
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
|
R-HSA-2408522
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-1614635
R-HSA-1430728
|
Metabolism
|
R-HSA-1614524
(
R-HSA-1614603;
R-HSA-1614635
)
R-HSA-1614524
Reaction Name: PXLP-CBS tetramers condenses HCYS and L-Ser to form L-Cystathionine
See in Reactome
R-HSA-2408559
(
R-HSA-2408508
)
R-HSA-2408559
Reaction Name: SeHCys and Ser are dehydrated into SeCysta by CBS
See in Reactome
|
MONDO:0005290 |
MONDO:0005290
Disease Name: rhabdomyolysis
All associated enzymes in DAR:
PGAM2
ACADVL
AHCY
AHCY |
P23526 |
3.3.1.1
|
R-HSA-1614635
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
R-HSA-156581
|
R-HSA-211859
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-2408522
R-HSA-1430728
R-HSA-156580
R-HSA-156580
Reactome Name: Phase II - Conjugation of compounds
See in Reactome
|
Metabolism
|
R-HSA-174401
(
R-HSA-156581;
R-HSA-1614635
)
R-HSA-174401
Reaction Name: AHCY:NAD+ tetramer hydrolyses AdoHcy
See in Reactome
R-HSA-2408532
(
R-HSA-2408508
)
R-HSA-2408532
Reaction Name: AdeSeHCys is hydrolysed to SeHCys by AHCY
See in Reactome
|
MONDO:0009058 |
CTH |
P32929 |
4.4.1.1
4.4.1.2
|
R-HSA-1614603
R-HSA-1614603
Reactome Name: Cysteine formation from homocysteine
See in Reactome
R-HSA-1614558
R-HSA-1614558
Reactome Name: Degradation of cysteine and homocysteine
See in Reactome
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
|
R-HSA-2408522
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-1614635
R-HSA-1430728
|
Metabolism
|
R-HSA-1614567
(
R-HSA-1614558;
R-HSA-1614635
)
R-HSA-1614567
Reaction Name: Excess homocysteine yields homolanthionine and H2S
See in Reactome
R-HSA-1614583
(
R-HSA-1614603;
R-HSA-1614635
)
R-HSA-1614583
Reaction Name: PXLP-K212-CTH cleaves L-Cystathionine
See in Reactome
R-HSA-1614591
(
R-HSA-1614558;
R-HSA-1614635
)
R-HSA-1614591
Reaction Name: Excess cysteine yields lanthionine and H2S
See in Reactome
R-HSA-1614614
(
R-HSA-1614558;
R-HSA-1614635
)
R-HSA-1614614
Reaction Name: Cysteine is degraded to serine and H2S
See in Reactome
R-HSA-1614631
(
R-HSA-1614558;
R-HSA-1614635
)
R-HSA-1614631
Reaction Name: Homocysteine is degraded to oxobutanoate and H2S
See in Reactome
R-HSA-2408537
(
R-HSA-2408508
)
R-HSA-2408537
Reaction Name: Excess SeMet is cleaved into MeSeH by PXLP-K212-CTH
See in Reactome
R-HSA-2408539
(
R-HSA-2408508
)
R-HSA-2408539
Reaction Name: MeSec is hydrolysed to MeSeH by PXLP-K212-CTH
See in Reactome
R-HSA-2408543
(
R-HSA-2408508
)
R-HSA-2408543
Reaction Name: SeCysta is hydrolysed to Sec by PXLP-K212-CTH
See in Reactome
|
MONDO:0009352 |
CBS |
P35520 |
4.2.1.22
|
R-HSA-1614603
R-HSA-1614603
Reactome Name: Cysteine formation from homocysteine
See in Reactome
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
|
R-HSA-2408522
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-1614635
R-HSA-1430728
|
Metabolism
|
R-HSA-1614524
(
R-HSA-1614603;
R-HSA-1614635
)
R-HSA-1614524
Reaction Name: PXLP-CBS tetramers condenses HCYS and L-Ser to form L-Cystathionine
See in Reactome
R-HSA-2408559
(
R-HSA-2408508
)
R-HSA-2408559
Reaction Name: SeHCys and Ser are dehydrated into SeCysta by CBS
See in Reactome
|
MONDO:0009607 |
MAT1A |
Q00266 |
2.5.1.6
|
R-HSA-1614635
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
R-HSA-156581
|
R-HSA-211859
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-2408522
R-HSA-1430728
R-HSA-156580
R-HSA-156580
Reactome Name: Phase II - Conjugation of compounds
See in Reactome
|
Metabolism
|
R-HSA-174391
(
R-HSA-156581;
R-HSA-1614635
)
R-HSA-174391
Reaction Name: MAT1A multimers transfer Ado from ATP to L-Met
See in Reactome
R-HSA-2408551
(
R-HSA-2408508
)
R-HSA-2408551
Reaction Name: SeMet is converted to AdoSeMet by MAT
See in Reactome
|
MONDO:0011698 |
GNMT |
Q14749 |
2.1.1.20
|
R-HSA-389661
R-HSA-389661
Reactome Name: Glyoxylate metabolism and glycine degradation
See in Reactome
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
|
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-1430728
R-HSA-2408522
|
Metabolism
|
R-HSA-2408544
(
R-HSA-2408508
)
R-HSA-2408544
Reaction Name: AdoSeMet is converted to AdeSeHCys by MetTrans(1)
See in Reactome
R-HSA-6798317
(
R-HSA-389661
)
R-HSA-6798317
Reaction Name: GNMT tetramer transfers methyl group from AdoMet to Gly to form AdoHyc and SARC
See in Reactome
|
MONDO:0013404 |
AHCY |
P23526 |
3.3.1.1
|
R-HSA-1614635
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
R-HSA-156581
|
R-HSA-211859
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-2408522
R-HSA-1430728
R-HSA-156580
R-HSA-156580
Reactome Name: Phase II - Conjugation of compounds
See in Reactome
|
Metabolism
|
R-HSA-174401
(
R-HSA-156581;
R-HSA-1614635
)
R-HSA-174401
Reaction Name: AHCY:NAD+ tetramer hydrolyses AdoHcy
See in Reactome
R-HSA-2408532
(
R-HSA-2408508
)
R-HSA-2408532
Reaction Name: AdeSeHCys is hydrolysed to SeHCys by AHCY
See in Reactome
|
MONDO:0014759 |
HNMT |
P50135 |
2.1.1.8
|
R-HSA-70921
R-HSA-2408508
R-HSA-2408508
Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se
See in Reactome
|
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-1430728
R-HSA-2408522
|
Metabolism
|
R-HSA-175993
(
R-HSA-70921
)
R-HSA-175993
Reaction Name: HNMT transfers CH3 group from AdoMet to Hist
See in Reactome
R-HSA-2408544
(
R-HSA-2408508
)
R-HSA-2408544
Reaction Name: AdoSeMet is converted to AdeSeHCys by MetTrans(1)
See in Reactome
|