DLACD
MCID: DLC002
MIFTS: 19

D-Lactic Aciduria with Gout (DLACD)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for D-Lactic Aciduria with Gout

MalaCards integrated aliases for D-Lactic Aciduria with Gout:

Name: D-Lactic Aciduria with Gout 56
Dlacd 56 73
Uric Acid Concentration, Serum, Quantitative Trait Locus 7; Uaqtl7 56
Uric Acid Concentration, Serum, Quantitative Trait Locus 7 56
D-Lactic Aciduria with Susceptibility to Gout 56
Gout, Susceptibility to, 5 56
Aciduria, D-Lactic 39
D-Lactic Aciduria 73
Gout 5; Gout5 56
Uaqtl7 56
Gout5 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
affected individuals have increased susceptibility to develop gouty arthropathy


HPO:

31
d-lactic aciduria with gout:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for D-Lactic Aciduria with Gout

OMIM : 56 D-lactic aciduria is characterized by elevated D-lactate in plasma and urine. Patients show elevated serum uric acid concentrations and low urinary uric acid levels, due to reduced renal clearance of uric acid, and affected adults may experience episodes of gouty arthropathy (Drabkin et al., 2019). For a discussion of genetic heterogeneity of serum uric acid concentration quantitative trait loci, see UAQTL1 (138900). (245450)

MalaCards based summary : D-Lactic Aciduria with Gout, is also known as dlacd. An important gene associated with D-Lactic Aciduria with Gout is LDHD (Lactate Dehydrogenase D). Related phenotypes are intellectual disability and inguinal hernia

UniProtKB/Swiss-Prot : 73 D-lactic aciduria: An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid.

Related Diseases for D-Lactic Aciduria with Gout

Symptoms & Phenotypes for D-Lactic Aciduria with Gout

Human phenotypes related to D-Lactic Aciduria with Gout:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 inguinal hernia 31 HP:0000023
3 microcephaly 31 HP:0000252
4 downslanted palpebral fissures 31 HP:0000494
5 aniridia 31 HP:0000526
6 lacticaciduria 31 HP:0003648

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
gouty arthropathy

Skeletal Feet:
gouty arthropathy

Skeletal Hands:
gouty arthropathy

Laboratory Abnormalities:
elevated urinary d-lactate levels (d-lactic aciduria)
elevated plasma d-lactate levels
normal plasma l-lactate levels
elevated plasma uric acid levels
reduced renal clearance of uric acid

Clinical features from OMIM:

245450

Drugs & Therapeutics for D-Lactic Aciduria with Gout

Search Clinical Trials , NIH Clinical Center for D-Lactic Aciduria with Gout

Genetic Tests for D-Lactic Aciduria with Gout

Anatomical Context for D-Lactic Aciduria with Gout

Publications for D-Lactic Aciduria with Gout

Articles related to D-Lactic Aciduria with Gout:

# Title Authors PMID Year
1
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase. 6 56
31638601 2019
2
Identification of human D lactate dehydrogenase deficiency. 6 56
30931947 2019
3
D-lactic aciduria, an inborn error of metabolism? 56 61
832430 1977
4
Lactobacilli and acidosis in children with short small bowel. 61
10749413 2000
5
D-Lactic acidosis in a boy with short bowel syndrome. 61
7436446 1980

Variations for D-Lactic Aciduria with Gout

ClinVar genetic disease variations for D-Lactic Aciduria with Gout:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LDHD NM_194436.3(LDHD):c.1039C>T (p.Arg347Trp)SNV Pathogenic 872931
2 LDHD NM_153486.3(LDHD):c.1122G>T (p.Trp374Cys)SNV Likely pathogenic 586968 rs1567502487 16:75147466-75147466 16:75113568-75113568
3 LDHD NM_153486.3(LDHD):c.1388C>T (p.Thr463Met)SNV Likely pathogenic 586969 rs764877688 16:75146390-75146390 16:75112492-75112492

UniProtKB/Swiss-Prot genetic disease variations for D-Lactic Aciduria with Gout:

73
# Symbol AA change Variation ID SNP ID
1 LDHD p.Trp374Cys VAR_082214
2 LDHD p.Thr463Met VAR_082215 rs764877688

Expression for D-Lactic Aciduria with Gout

Search GEO for disease gene expression data for D-Lactic Aciduria with Gout.

Pathways for D-Lactic Aciduria with Gout

GO Terms for D-Lactic Aciduria with Gout

Sources for D-Lactic Aciduria with Gout

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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