MSUDMV
MCID: MPL011
MIFTS: 17

Maple Syrup Urine Disease, Mild Variant (MSUDMV)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Maple Syrup Urine Disease, Mild Variant

MalaCards integrated aliases for Maple Syrup Urine Disease, Mild Variant:

Name: Maple Syrup Urine Disease, Mild Variant 57 72 29 13 6 39 70
Msudmv 57 72

Classifications:



External Ids:

OMIM® 57 615135
OMIM Phenotypic Series 57 PS248600
MeSH 44 D008375
UMLS 70 C3554575

Summaries for Maple Syrup Urine Disease, Mild Variant

UniProtKB/Swiss-Prot : 72 Maple syrup urine disease, mild variant: A mild form of maple syrup urine disease, a metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. MSUDMV is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes.

MalaCards based summary : Maple Syrup Urine Disease, Mild Variant, is also known as msudmv. An important gene associated with Maple Syrup Urine Disease, Mild Variant is PPM1K (Protein Phosphatase, Mg2+/Mn2+ Dependent 1K).

OMIM® : 57 The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by Oyarzabal et al., 2013). For a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see 248600. (615135) (Updated 05-Apr-2021)

Related Diseases for Maple Syrup Urine Disease, Mild Variant

Symptoms & Phenotypes for Maple Syrup Urine Disease, Mild Variant

Clinical features from OMIM®:

615135 (Updated 05-Apr-2021)

Drugs & Therapeutics for Maple Syrup Urine Disease, Mild Variant

Search Clinical Trials , NIH Clinical Center for Maple Syrup Urine Disease, Mild Variant

Genetic Tests for Maple Syrup Urine Disease, Mild Variant

Genetic tests related to Maple Syrup Urine Disease, Mild Variant:

# Genetic test Affiliating Genes
1 Maple Syrup Urine Disease, Mild Variant 29 PPM1K

Anatomical Context for Maple Syrup Urine Disease, Mild Variant

Publications for Maple Syrup Urine Disease, Mild Variant

Articles related to Maple Syrup Urine Disease, Mild Variant:

# Title Authors PMID Year
1
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. 57 6
23086801 2013
2
Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells. 57
19411760 2009

Variations for Maple Syrup Urine Disease, Mild Variant

ClinVar genetic disease variations for Maple Syrup Urine Disease, Mild Variant:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPM1K PPM1K, 2-BP DEL, 417TA Deletion Pathogenic 41439 GRCh37:
GRCh38:
2 PPM1K NM_152542.5(PPM1K):c.509C>A (p.Ala170Asp) SNV Uncertain significance 580759 rs770171465 GRCh37: 4:89198327-89198327
GRCh38: 4:88277175-88277175
3 PPM1K NM_152542.5(PPM1K):c.542-3T>C SNV Uncertain significance 655372 rs534271377 GRCh37: 4:89190061-89190061
GRCh38: 4:88268909-88268909
4 PPM1K NM_152542.5(PPM1K):c.988-7C>G SNV Uncertain significance 664284 rs1335866068 GRCh37: 4:89183885-89183885
GRCh38: 4:88262733-88262733
5 PPM1K NC_000004.12:g.(?_88262575)_(88278603_?)del Deletion Uncertain significance 830899 GRCh37: 4:89183727-89199755
GRCh38:
6 PPM1K NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln) SNV Uncertain significance 835720 GRCh37: 4:89199425-89199425
GRCh38: 4:88278273-88278273
7 PPM1K NM_152542.5(PPM1K):c.475C>G (p.Leu159Val) SNV Uncertain significance 860430 GRCh37: 4:89198361-89198361
GRCh38: 4:88277209-88277209
8 PPM1K NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys) SNV Uncertain significance 939984 GRCh37: 4:89198310-89198310
GRCh38: 4:88277158-88277158
9 PPM1K NM_152542.5(PPM1K):c.974C>T (p.Ala325Val) SNV Uncertain significance 1000474 GRCh37: 4:89186166-89186166
GRCh38: 4:88265014-88265014
10 PPM1K NM_152542.5(PPM1K):c.208C>T (p.Arg70Cys) SNV Uncertain significance 1001639 GRCh37: 4:89199528-89199528
GRCh38: 4:88278376-88278376
11 PPM1K NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser) SNV Uncertain significance 949421 GRCh37: 4:89199348-89199348
GRCh38: 4:88278196-88278196
12 PPM1K NM_152542.5(PPM1K):c.971A>G (p.His324Arg) SNV Uncertain significance 857355 GRCh37: 4:89186169-89186169
GRCh38: 4:88265017-88265017
13 PPM1K NM_152542.5(PPM1K):c.587G>A (p.Arg196Gln) SNV Uncertain significance 1038220 GRCh37: 4:89190013-89190013
GRCh38: 4:88268861-88268861
14 PPM1K NM_152542.5(PPM1K):c.77G>A (p.Arg26His) SNV Uncertain significance 1046955 GRCh37: 4:89199659-89199659
GRCh38: 4:88278507-88278507
15 PPM1K NM_152542.5(PPM1K):c.708-5A>G SNV Likely benign 729996 rs192622849 GRCh37: 4:89189491-89189491
GRCh38: 4:88268339-88268339
16 PPM1K NM_152542.5(PPM1K):c.629G>A (p.Arg210Gln) SNV Likely benign 791728 rs77538297 GRCh37: 4:89189971-89189971
GRCh38: 4:88268819-88268819
17 PPM1K NM_152542.5(PPM1K):c.961G>A (p.Glu321Lys) SNV Benign 775998 rs35523553 GRCh37: 4:89186179-89186179
GRCh38: 4:88265027-88265027
18 PPM1K NM_152542.5(PPM1K):c.339C>T (p.Phe113=) SNV Benign 473874 rs116564150 GRCh37: 4:89199397-89199397
GRCh38: 4:88278245-88278245
19 PPM1K NM_152542.5(PPM1K):c.481A>G (p.Thr161Ala) SNV Benign 473875 rs113436519 GRCh37: 4:89198355-89198355
GRCh38: 4:88277203-88277203
20 PPM1K NM_152542.5(PPM1K):c.978G>A (p.Val326=) SNV Benign 473876 rs34981823 GRCh37: 4:89186162-89186162
GRCh38: 4:88265010-88265010

Expression for Maple Syrup Urine Disease, Mild Variant

Search GEO for disease gene expression data for Maple Syrup Urine Disease, Mild Variant.

Pathways for Maple Syrup Urine Disease, Mild Variant

GO Terms for Maple Syrup Urine Disease, Mild Variant

Sources for Maple Syrup Urine Disease, Mild Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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