DLACD
MCID: DLC001
MIFTS: 10

D-Lactic Aciduria (DLACD)

Categories: Genetic diseases

Aliases & Classifications for D-Lactic Aciduria

MalaCards integrated aliases for D-Lactic Aciduria:

Name: D-Lactic Aciduria 58
Dlacd 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
d-lactic aciduria:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for D-Lactic Aciduria

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

Description from OMIM: 245450

Related Diseases for D-Lactic Aciduria

Symptoms & Phenotypes for D-Lactic Aciduria

Human phenotypes related to D-Lactic Aciduria:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 inguinal hernia 33 HP:0000023
3 microcephaly 33 HP:0000252
4 downslanted palpebral fissures 33 HP:0000494
5 aniridia 33 HP:0000526
6 lacticaciduria 33 HP:0003648

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
d-lacticaciduria
normal plasma lactic acid

Clinical features from OMIM:

245450

Drugs & Therapeutics for D-Lactic Aciduria

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

Genetic Tests for D-Lactic Aciduria

Anatomical Context for D-Lactic Aciduria

Publications for D-Lactic Aciduria

Articles related to D-Lactic Aciduria:

# Title Authors Year
1
D-lactic aciduria, an inborn error of metabolism? ( 832430 )
1977

Variations for D-Lactic Aciduria

ClinVar genetic disease variations for D-Lactic Aciduria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LDHD NM_153486.3(LDHD): c.1122G> T (p.Trp374Cys) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 16, 75113568: 75113568
2 LDHD NM_153486.3(LDHD): c.1122G> T (p.Trp374Cys) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 16, 75147466: 75147466
3 LDHD NM_153486.3(LDHD): c.1388C> T (p.Thr463Met) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 16, 75112492: 75112492
4 LDHD NM_153486.3(LDHD): c.1388C> T (p.Thr463Met) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 16, 75146390: 75146390

Expression for D-Lactic Aciduria

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

Pathways for D-Lactic Aciduria

GO Terms for D-Lactic Aciduria

Sources for D-Lactic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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