This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of d... See more...

Aliases for SDHD Gene

Aliases for SDHD Gene

  • Succinate Dehydrogenase Complex Subunit D 2 3 4 5
  • CybS 2 3 4
  • Succinate Dehydrogenase [Ubiquinone] Cytochrome B Small Subunit, Mitochondrial 3 4
  • Succinate-Ubiquinone Oxidoreductase Cytochrome B Small Subunit 3 4
  • Succinate-Ubiquinone Reductase Membrane Anchor Subunit 3 4
  • CII-4 3 4
  • QPs3 3 4
  • SDH4 3 4
  • Succinate Dehydrogenase Complex, Subunit D, Integral Membrane Protein 2
  • Succinate Dehydrogenase Complex Subunit D Integral Membrane Protein 3
  • Small Subunit Of Cytochrome B 2
  • MC2DN3 3
  • CBT1 3
  • CWS3 3
  • PGL1 3
  • SDHD 5
  • PGL 3

External Ids for SDHD Gene

Previous HGNC Symbols for SDHD Gene

  • PGL
  • PGL1

Previous GeneCards Identifiers for SDHD Gene

  • GC11P114310
  • GC11P113469
  • GC11P111991
  • GC11P111495
  • GC11P111462
  • GC11P107881

Summaries for SDHD Gene

Entrez Gene Summary for SDHD Gene

  • This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

GeneCards Summary for SDHD Gene

SDHD (Succinate Dehydrogenase Complex Subunit D) is a Protein Coding gene. Diseases associated with SDHD include Paraganglioma And Gastric Stromal Sarcoma and Paragangliomas 1. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include heme binding and ubiquinone binding. An important paralog of this gene is ENSG00000255292.

UniProtKB/Swiss-Prot Summary for SDHD Gene

  • Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).

Gene Wiki entry for SDHD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDHD Gene

Genomics for SDHD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SDHD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDHD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SDHD

Top Transcription factor binding sites by QIAGEN in the SDHD gene promoter:
  • AREB6
  • FOXD3
  • ITF-2
  • Nkx6-1
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha1
  • Tal-1beta

Genomic Locations for SDHD Gene

Latest Assembly
chr11:112,086,824-112,120,016
(GRCh38/hg38)
Size:
33,193 bases
Orientation:
Plus strand

Previous Assembly
chr11:111,957,597-111,966,518
(GRCh37/hg19 by Entrez Gene)
Size:
8,922 bases
Orientation:
Plus strand

chr11:111,957,497-111,990,353
(GRCh37/hg19 by Ensembl)
Size:
32,857 bases
Orientation:
Plus strand

Genomic View for SDHD Gene

Genes around SDHD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDHD Gene

Proteins for SDHD Gene

  • Protein details for SDHD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14521-DHSD_HUMAN
    Recommended name:
    Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
    Protein Accession:
    O14521
    Secondary Accessions:
    • A6ND90
    • B3KQQ8
    • E9PIC0
    • E9PIG3
    • E9PQI9
    • Q53XW5
    • Q6IRW2

    Protein attributes for SDHD Gene

    Size:
    159 amino acids
    Molecular mass:
    17043 Da
    Quaternary structure:
    • Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.

    Alternative splice isoforms for SDHD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDHD Gene

Post-translational modifications for SDHD Gene

No Post-translational modifications

No data available for DME Specific Peptides for SDHD Gene

Domains & Families for SDHD Gene

Gene Families for SDHD Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SDHD Gene

InterPro:
Blocks:
  • CybS

Suggested Antigen Peptide Sequences for SDHD Gene

GenScript: Design optimal peptide antigens:
  • Succinate-ubiquinone reductase membrane anchor subunit (DHSD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14521

UniProtKB/Swiss-Prot:

DHSD_HUMAN :
  • Belongs to the CybS family.
Family:
  • Belongs to the CybS family.
genes like me logo Genes that share domains with SDHD: view

Function for SDHD Gene

Molecular function for SDHD Gene

UniProtKB/Swiss-Prot Function:
Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
GENATLAS Biochemistry:
succinate dehydrogenase,cyb S subunit,liver,inner mitochondrial membrane,component 4 of complex II of mitochondrial respiratory chain (CII-4),oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle

Phenotypes From GWAS Catalog for SDHD Gene

Gene Ontology (GO) - Molecular Function for SDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000104 succinate dehydrogenase activity IDA 9533030
GO:0005515 protein binding IPI 32296183
GO:0009055 electron transfer activity TAS 9533030
GO:0020037 heme binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SDHD: view
genes like me logo Genes that share phenotypes with SDHD: view

Human Phenotype Ontology for SDHD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDHD Gene

MGI Knock Outs for SDHD:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDHD

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SDHD Gene

Localization for SDHD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHD Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SDHD gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,TAS --
GO:0005740 mitochondrial envelope IEA,TAS 9533030
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) IBA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SDHD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SDHD Gene

Pathways & Interactions for SDHD Gene

genes like me logo Genes that share pathways with SDHD: view

UniProtKB/Swiss-Prot O14521-DHSD_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle.

SIGNOR curated interactions for SDHD Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle IEA,TAS --
GO:0006121 mitochondrial electron transport, succinate to ubiquinone IBA 21873635
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with SDHD: view

Drugs & Compounds for SDHD Gene

(16) Drugs for SDHD Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexachlorophene Approved, Withdrawn Pharma Target, inhibitor 3
Citric acid Approved, Vet_approved Nutra Target 1606
FAD Approved Pharma 0
Succinic acid Approved Nutra 0
Ubiquinone-1 Experimental Pharma Target 0

(7) Additional Compounds for SDHD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
  • Sulphide(2-)
18496-25-8

(1) ApexBio Compounds for SDHD Gene

Compound Action Cas Number
Methylmalonate 516-05-2
genes like me logo Genes that share compounds with SDHD: view

Drug products for research

Transcripts for SDHD Gene

mRNA/cDNA for SDHD Gene

4 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDHD

Alternative Splicing Database (ASD) splice patterns (SP) for SDHD Gene

No ASD Table

Relevant External Links for SDHD Gene

GeneLoc Exon Structure for
SDHD

Expression for SDHD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SDHD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SDHD Gene

This gene is overexpressed in Bone (10.4) and Liver (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SDHD Gene



Protein tissue co-expression partners for SDHD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDHD

SOURCE GeneReport for Unigene cluster for SDHD Gene:

Hs.744039

Evidence on tissue expression from TISSUES for SDHD Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Muscle(4.7)
  • Lung(4.6)
  • Bone marrow(4.4)
  • Kidney(4)
  • Skin(3.5)
  • Adrenal gland(3.4)
  • Thyroid gland(2.9)
  • Heart(2.9)
  • Lymph node(2.8)
  • Intestine(2.7)
  • Blood(2.7)
  • Pancreas(2.7)
  • Stomach(2.5)
  • Spleen(2.3)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pituitary gland
  • salivary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • adrenal gland
  • appendix
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with SDHD: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SDHD Gene

Orthologs for SDHD Gene

This gene was present in the common ancestor of animals.

Orthologs for SDHD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SDHD 29
  • 99.58 (n)
Dog
(Canis familiaris)
Mammalia SDHD 29
  • 88.26 (n)
Cow
(Bos Taurus)
Mammalia SDHD 29 30
  • 86.97 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Sdhd 29
  • 83.23 (n)
Mouse
(Mus musculus)
Mammalia Sdhd 29 16 30
  • 83.02 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 69 (a)
OneToMany
Chicken
(Gallus gallus)
Aves SDHD 29 30
  • 63.75 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 83 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sdhd 29
  • 64.91 (n)
Zebrafish
(Danio rerio)
Actinopterygii sdhdb 29 30
  • 60.82 (n)
ManyToMany
sdhda 30
  • 53 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG10219 30
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sdhd-1 30
  • 32 (a)
OneToMany
Species where no ortholog for SDHD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SDHD Gene

ENSEMBL:
Gene Tree for SDHD (if available)
TreeFam:
Gene Tree for SDHD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SDHD: view image
Alliance of Genome Resources:
Additional Orthologs for SDHD

Paralogs for SDHD Gene

Paralogs for SDHD Gene

genes like me logo Genes that share paralogs with SDHD: view

Variants for SDHD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SDHD Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1001435 Uncertain Significance: Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3; Paragangliomas 1 112,094,876(+) T/G
NM_003002.4(SDHD):c.386T>G (p.Leu129Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
1002957 Uncertain Significance: Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3; Paragangliomas 1 112,094,842(+) G/A
NM_003002.4(SDHD):c.352G>A (p.Asp118Asn)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR
1003698 Uncertain Significance: Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3; Paragangliomas 1 112,094,917(+) A/G
NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
1004905 Uncertain Significance: Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3; Paragangliomas 1 112,086,951(+) G/C
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1009205 Uncertain Significance: Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3; Paragangliomas 1 112,087,940(+) G/T
NM_003002.4(SDHD):c.136G>T (p.Val46Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SDHD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SDHD Gene

Variant ID Type Subtype PubMed ID
esv2745077 CNV deletion 23290073
nsv975979 CNV duplication 23825009

Variation tolerance for SDHD Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDHD Gene

Human Gene Mutation Database (HGMD)
SDHD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDHD
Leiden Open Variation Database (LOVD)
SDHD

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHD Gene

Disorders for SDHD Gene

MalaCards: The human disease database

(64) MalaCards diseases for SDHD Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SDHD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHSD_HUMAN
  • Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors. {ECO:0000269 PubMed:10657297, ECO:0000269 PubMed:11343322, ECO:0000269 PubMed:11391796, ECO:0000269 PubMed:11391798, ECO:0000269 PubMed:15328326}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:11156372, ECO:0000269 PubMed:12000816, ECO:0000269 PubMed:15328326}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. {ECO:0000269 PubMed:17804857}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. {ECO:0000269 PubMed:24367056, ECO:0000269 PubMed:26008905}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SDHD

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SDHD: view

No data available for Genatlas for SDHD Gene

Publications for SDHD Gene

  1. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID: 15328326) Neumann HP … European-American Paraganglioma Study Group (JAMA 2004) 3 4 22 40 72
  2. Germ-line mutations in nonsyndromic pheochromocytoma. (PMID: 12000816) Neumann HP … Freiburg-Warsaw-Columbus Pheochromocytoma Study Group (The New England journal of medicine 2002) 3 4 22 40 72
  3. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. (PMID: 19802898) Ricketts CJ … Maher ER (Human mutation 2010) 3 22 40 72
  4. Genetics of pheochromocytoma and paraganglioma in Spanish patients. (PMID: 19258401) Cascón A … Robledo M (The Journal of clinical endocrinology and metabolism 2009) 3 22 40 72
  5. High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. (PMID: 18551016) Persu A … Vikkula M (Journal of hypertension 2008) 3 22 40 72

Products for SDHD Gene

Sources for SDHD Gene