MCDU
MCID: MRC009
MIFTS: 23

Mercaptolactate-Cysteine Disulfiduria (MCDU)

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mercaptolactate-Cysteine Disulfiduria

MalaCards integrated aliases for Mercaptolactate-Cysteine Disulfiduria:

Name: Mercaptolactate-Cysteine Disulfiduria 57 73
Mcdu 57 59
3-Mercaptopyruvate Sulfurtransferase Deficiency 59
Beta-Mercaptolactate Cysteine Disulfiduria 59
Disulfiduria, Mixed 57
Ampola Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
mercaptolactate-cysteine disulfiduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Mercaptolactate-Cysteine Disulfiduria

MalaCards based summary : Mercaptolactate-Cysteine Disulfiduria, also known as mcdu, is related to ampola syndrome and anxiety. An important gene associated with Mercaptolactate-Cysteine Disulfiduria is MPST (Mercaptopyruvate Sulfurtransferase). Affiliated tissues include skin, and related phenotypes are obesity and frontal bossing

Wikipedia : 76 In enzymology, a 3-mercaptopyruvate sulfurtransferase (EC 2.8.1.2) is an enzyme that catalyzes the... more...

Description from OMIM: 249650

Related Diseases for Mercaptolactate-Cysteine Disulfiduria

Diseases related to Mercaptolactate-Cysteine Disulfiduria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ampola syndrome 12.0
2 anxiety 10.4

Symptoms & Phenotypes for Mercaptolactate-Cysteine Disulfiduria

Symptoms via clinical synopsis from OMIM:

57
Lab:
aminoaciduria
beta-mercaptolactate-cysteine disulfiduria
mercaptopyruvate sulfurtransferase (mst) deficiency
excess urinary mercaptolactate
excess urinary mercaptoacetate

H E E N T:
flat nasal bridge
high arched palate

Neuro:
mental retardation
placid
hypokinetic
grand mal seizures


Clinical features from OMIM:

249650

Human phenotypes related to Mercaptolactate-Cysteine Disulfiduria:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
8 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
9 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
10 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
13 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
14 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
15 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
16 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
17 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
18 hypoplasia of the ear cartilage 59 32 frequent (33%) Frequent (79-30%) HP:0100720
19 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
20 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
21 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
22 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
23 convex nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000444
24 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
25 depressed nasal bridge 32 HP:0005280
26 aminoaciduria 32 HP:0003355
27 high, narrow palate 32 HP:0002705
28 generalized tonic-clonic seizures 32 HP:0002069
29 hypokinesia 32 HP:0002375

Drugs & Therapeutics for Mercaptolactate-Cysteine Disulfiduria

Search Clinical Trials , NIH Clinical Center for Mercaptolactate-Cysteine Disulfiduria

Genetic Tests for Mercaptolactate-Cysteine Disulfiduria

Anatomical Context for Mercaptolactate-Cysteine Disulfiduria

MalaCards organs/tissues related to Mercaptolactate-Cysteine Disulfiduria:

41
Skin

Publications for Mercaptolactate-Cysteine Disulfiduria

Articles related to Mercaptolactate-Cysteine Disulfiduria:

# Title Authors Year
1
Antioxidant enzyme, 3-mercaptopyruvate sulfurtransferase-knockout mice exhibit increased anxiety-like behaviors: a model for human mercaptolactate-cysteine disulfiduria. ( 23759691 )
2013
2
3-mercaptolactate cysteine disulfiduria: biochemical studies on affected and unaffected members of a family. ( 6945862 )
1981
3
beta-Mercaptolactate cysteine disulfiduria in two normal sisters. Isolation and characterization of beta-mercaptolactate cysteine disulfide. ( 4690911 )
1973

Variations for Mercaptolactate-Cysteine Disulfiduria

Expression for Mercaptolactate-Cysteine Disulfiduria

Search GEO for disease gene expression data for Mercaptolactate-Cysteine Disulfiduria.

Pathways for Mercaptolactate-Cysteine Disulfiduria

GO Terms for Mercaptolactate-Cysteine Disulfiduria

Sources for Mercaptolactate-Cysteine Disulfiduria

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....