MCID: MRC009
MIFTS: 21

Mercaptolactate-Cysteine Disulfiduria

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mercaptolactate-Cysteine Disulfiduria

MalaCards integrated aliases for Mercaptolactate-Cysteine Disulfiduria:

Name: Mercaptolactate-Cysteine Disulfiduria 53 69
Mcdu 53 55
3-Mercaptopyruvate Sulfurtransferase Deficiency 55
Beta-Mercaptolactate Cysteine Disulfiduria 55
Disulfiduria, Mixed 53
Ampola Syndrome 55

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
mercaptolactate-cysteine disulfiduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 249650
Orphanet 55 ORPHA1035
UMLS via Orphanet 70 C0796055
ICD10 via Orphanet 33 E72.1
MedGen 39 C0796055
UMLS 69 C0796055

Summaries for Mercaptolactate-Cysteine Disulfiduria

MalaCards based summary : Mercaptolactate-Cysteine Disulfiduria, also known as mcdu, is related to ampola syndrome and anxiety, and has symptoms including intellectual disability, seizures and dry skin. An important gene associated with Mercaptolactate-Cysteine Disulfiduria is MPST (Mercaptopyruvate Sulfurtransferase). Affiliated tissues include skin.

Wikipedia : 72 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 11.8
2 anxiety 10.3

Symptoms & Phenotypes for Mercaptolactate-Cysteine Disulfiduria

Symptoms via clinical synopsis from OMIM:

53
Lab:
aminoaciduria
beta-mercaptolactate-cysteine disulfiduria
mercaptopyruvate sulfurtransferase (mst) deficiency
excess urinary mercaptolactate
excess urinary mercaptoacetate

HEENT:
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:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 55 31 Very frequent (99-80%) HP:0001249
2 seizures 55 Very frequent (99-80%)
3 dry skin 55 Frequent (79-30%)
4 obesity 55 Occasional (29-5%)
5 frontal bossing 55 Frequent (79-30%)
6 genu valgum 55 Frequent (79-30%)
7 high palate 55 Frequent (79-30%)
8 muscular hypotonia 55 Frequent (79-30%)
9 eeg abnormality 55 Frequent (79-30%)
10 depressed nasal bridge 31 HP:0005280
11 umbilical hernia 55 Occasional (29-5%)
12 anteverted nares 55 Frequent (79-30%)
13 short stature 55 Very frequent (99-80%)
14 aminoaciduria 31 HP:0003355
15 strabismus 55 Frequent (79-30%)
16 micromelia 55 Frequent (79-30%)
17 joint hyperflexibility 55 Frequent (79-30%)
18 high, narrow palate 31 HP:0002705
19 atrial septal defect 55 Occasional (29-5%)
20 generalized tonic-clonic seizures 31 HP:0002069
21 low-set, posteriorly rotated ears 55 Frequent (79-30%)
22 hypoplasia of the ear cartilage 55 Frequent (79-30%)
23 arachnodactyly 55 Frequent (79-30%)
24 downslanted palpebral fissures 55 Frequent (79-30%)
25 sandal gap 55 Frequent (79-30%)
26 high forehead 55 Very frequent (99-80%)
27 convex nasal ridge 55 Frequent (79-30%)
28 abnormality of the ureter 55 Occasional (29-5%)
29 hypokinesia 31 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:

38
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
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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