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 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


External Ids:

OMIM 57 249650
Orphanet 59 ORPHA1035
UMLS via Orphanet 74 C0796055
ICD10 via Orphanet 34 E72.1
MedGen 42 C0796055
UMLS 73 C0796055

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 high palate and intellectual disability

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 11.8
2 anxiety 10.3

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

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:

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