MCID: MRC009
MIFTS: 18

Mercaptolactate-Cysteine Disulfiduria

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Mercaptolactate-Cysteine Disulfiduria

MalaCards integrated aliases for Mercaptolactate-Cysteine Disulfiduria:

Name: Mercaptolactate-Cysteine Disulfiduria 54 69
Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 56
Ampola Syndrome 56

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
mercaptolactate-cysteine disulfiduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Mercaptolactate-Cysteine Disulfiduria

MalaCards based summary : Mercaptolactate-Cysteine Disulfiduria, also known as encephalopathy due to beta-mercaptolactate-cysteine disulfiduria, is related to ampola syndrome, and has symptoms including short stature, strabismus and umbilical hernia. An important gene associated with Mercaptolactate-Cysteine Disulfiduria is MPST (Mercaptopyruvate Sulfurtransferase). Affiliated tissues include skin.

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:

id Related Disease Score Top Affiliating Genes
1 ampola syndrome 11.8

Symptoms & Phenotypes for Mercaptolactate-Cysteine Disulfiduria

Symptoms via clinical synopsis from OMIM:

54

HEENT:
flat nasal bridge
high arched palate

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

Neuro:
mental retardation
grand mal seizures
placid
hypokinetic


Clinical features from OMIM:

249650

Human phenotypes related to Mercaptolactate-Cysteine Disulfiduria:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
4 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
6 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
7 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
8 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
9 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
10 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
11 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
12 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
13 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
14 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
15 arachnodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001166
16 micromelia 56 32 frequent (33%) Frequent (79-30%) HP:0002983
17 obesity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001513
18 sandal gap 56 32 frequent (33%) Frequent (79-30%) HP:0001852
19 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
20 convex nasal ridge 56 32 frequent (33%) Frequent (79-30%) HP:0000444
21 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
22 hypoplasia of the ear cartilage 56 32 frequent (33%) Frequent (79-30%) HP:0100720
23 abnormality of the ureter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000069
24 depressed nasal bridge 32 HP:0005280
25 atrial septal defect 32 occasional (7.5%) HP:0001631
26 aminoaciduria 32 HP:0003355
27 hypokinesia 32 HP:0002375
28 generalized tonic-clonic seizures 32 HP:0002069
29 high, narrow palate 32 HP:0002705
30 atria septal defect 56 Occasional (29-5%)

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:

39
Skin

Publications for Mercaptolactate-Cysteine Disulfiduria

Articles related to Mercaptolactate-Cysteine Disulfiduria:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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