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	dihydrolipoamide dehydrogenase deficiency

Disease ID	1031
Disease	dihydrolipoamide dehydrogenase deficiency
Synonym	chronic familial methaemoglobin reductase deficiency chronic familial methemoglobin reductase deficiency congenital dpnh-methemoglobin-reductase deficiency congenital infantile lactic acidosis due to lad deficiency congenital nadh-methemoglobin-reductase deficiency cytochrome b5 reductase deficiency cytochrome b₅ reductase deficiency cytochrome b>5< reductase deficiency cytochrome-b reductase deficiency cytochrome-b reductase deficiency (disorder) deficiency of cytochrome-b5 reductase deficiency of cytochrome-b5 reductase (disorder) deficiency of cytochrome-b₅ reductase deficiency of cytochrome-b₅ reductase (disorder) deficiency of cytochrome-b>5< reductase deficiency of cytochrome-b>5< reductase (disorder) deficiency of diaphorase deficiency of dihydrolipoamide dehydrogenase deficiency of dihydrolipoamide dehydrogenase (disorder) deficiency of lipoamide reductase (nadh) diaphorase deficiency dihydrolipoamide dehydrogenase deficiency (disorder) dihydrolipoyl dehydrogenase deficiency dld - dihydrolipoamide dehydrogenase deficiency dld deficiency dldd dpnh methaemoglobin reductase deficiency dpnh methemoglobin reductase deficiency dpnh-methaemoglobin reductase deficiency dpnh-methemoglobin reductase deficiency e3 e3 deficiency lactic acidosis due to lad deficiency lipoamide dehydrogenase deficiency lipoamide dehydrogenase deficiency, lactic acidosis due to maple syrup urine disease with lactic acidosis maple syrup urine disease, type iii methemoglobinemia due to deficiency of methemoglobin reductase methemoglobinemia, congenital, autosomal recessive nadh cytochrome b5 reductase deficiency nadh diaphorase deficiency nadh methemoglobin reductase deficiency nadh-cytochrome b5 reductase deficiency nadh-dependent methemoglobin reductase deficiency nadh-methaemoglobin reductase deficiency nadh-methemoglobin reductase deficiency
Orphanet	ORPHANET:255182 ORPHANET:2394
OMIM	OMIM:250800 OMIM:246900 OMIM:602733
DOID	DOID:9269
UMLS	C0268193
SNOMED-CT	SNOMEDCT_US_2016_09_01:124184009;SNOMEDCT_US_2016_09_01:29914000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0025637 \| methemoglobinemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1738 \| DLD \| OMIM;ORPHANET;UNIPROT 1727 \| CYB5R3 \| CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1031
Disease	dihydrolipoamide dehydrogenase deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:12) HP:0000961 \| Cyanosis HP:0002179 \| Opisthotonus HP:0000486 \| Squint eyes HP:0000252 \| Small head circumference HP:0001263 \| Developmental retardation HP:0002875 \| Exertional dyspnea HP:0012119 \| Methemoglobinemia HP:0002315 \| Headaches HP:0001510 \| Growth deficiency HP:0001901 \| Abnormally shaped erythrocytes HP:0001276 \| Hypertonia HP:0001249 \| Mental retardation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0012119 \| Methemoglobinemia \| 1

Disease ID	1031
Disease	dihydrolipoamide dehydrogenase deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0025637 \| methemoglobinemia \| 1

Manually Genotype(Total Manually Genotypes:3)
Gene	Mutation	DOI	Article Title
DLD	c.685G>T in both	doi:10.1038/gim.2016.8	Expanded carrier screening in an infertile population: how often is clinical decision making affected?
DLD	p.G229C17	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
DLD	p.Y35X	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121964990	23478190	1738	DLD	umls:C0268193	BeFree	The diagnosis of DLD deficiency was possible only after genome-wide linkage analysis, confirmed by a homozygous mutation (p.G229C) in the DLD gene, previously reported in patients with the same geographic origin.	0.242442977	2013	DLD	7	107915506	G	T
rs121965009	1400360	1727	CYB5R3	umls:C0268193	UNIPROT	Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).	0.36	1992	CYB5R3	22	42630899	C	T
rs201232518	9886302	1727	CYB5R3	umls:C0268193	UNIPROT	Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.	0.36	1998	CYB5R3	22	42627616	G	A

GWASdb Annotation(Total Genotypes:1)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
22	43019632	rs137127	NM_001171660,CYB5R3	NM_001129819,CYB5R3	NM_001171661,CYB5R3	NM_007326,CYB5R3	NM_000398,CYB5R3	ENST00000396303,ENSG00000100243	ENST00000361740,ENSG00000100243	ENST00000396309,ENSG00000100243	ENST00000352397,ENSG00000100243	ENST00000407623,ENSG00000100243	ENST00000414587,ENSG00000100243	ENST00000407332,ENSG00000100243	ENST00000470741,ENSG00000100243	ENST00000402438,ENSG00000100243	TFP.EBF1	TFP.TCF12	MCV-17	NA	chr22,43010001,43020000,chr22,42970001,42980000,28,Hi-C	chr22,43010001,43020000,chr16,70010001,70020000,64,Hi-C	chr22,43010001,43020000,chrX,111850001,111860000,5,Hi-C	chr22,43010001,43020000,chr22,42400001,42410000,7,Hi-C	chr22,43010001,43020000,chr3,192740001,192750000,8,Hi-C	chr22,43010001,43020000,chr9,31220001,31230000,12,Hi-C	chr22,43010001,43020000,chr22,43470001,43480000,6,Hi-C	chr22,43010001,43020000,chr22,45040001,45050000,8,Hi-C	NA	LM4,3.3653	LM12,2.0562	LM35,2.662	LM40,3.0482	LM57,1.3119	NA	NA	NA

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis

Mapped by homologous gene(Total Items:12)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002179	Opisthotonus	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0012119	Methemoglobinemia	MP:0010957	abnormal aerobic respiration	any anomaly in the process of enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor
HP:0001901	Polycythemia	MP:0013241	embryo tissue necrosis	morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0001510	Growth delay	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0002315	Headache	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001276	Hypertonia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000486	Strabismus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000252	Microcephaly	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000961	Cyanosis	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0002875	Exertional dyspnea	MP:0013405	increased circulating lactate level	greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase

Disease ID	1031
Disease	dihydrolipoamide dehydrogenase deficiency
Case	(Waiting for update.)

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