Haploinsufficiency, the Glossary
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype.[1]
Table of Contents
52 relations: Allele, Aortic stenosis, Bone marrow failure, Cancer, CHARGE syndrome, Cleidocranial dysostosis, Copy number variation, DiGeorge syndrome, Dominance (genetics), Dravet syndrome, Dyskeratosis congenita, Ehlers–Danlos syndrome, Elastin, Expressivity (genetics), FOXP1, Frontotemporal dementia, Gene dosage, Genetics, Genetics (journal), Genomics (journal), Genotype, GLUT1 deficiency, Granulin, Haploinsufficiency of A20, Holoprosencephaly, Holt–Oram syndrome, Locus (genetics), Marfan syndrome, Mutation, Myelodysplastic syndrome, Nature (journal), Neuron (journal), Non-allelic homologous recombination, Null allele, Phenotype, Ploidy, Polydactyly, Proline-rich 12, Protein, PRPF31, Pulmonary fibrosis, Retinitis pigmentosa, Saccharomyces cerevisiae, Sonic hedgehog protein, Telomerase reverse transcriptase, Tissue culture, Wild type, Williams syndrome, ZTTK syndrome, Zygosity, ... Expand index (2 more) »
Allele
An allele, or allelomorph, is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule.
See Haploinsufficiency and Allele
Aortic stenosis
Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the aorta begins), such that problems result.
See Haploinsufficiency and Aortic stenosis
Bone marrow failure
Bone marrow failure occurs in individuals who produce an insufficient amount of red blood cells, white blood cells or platelets.
See Haploinsufficiency and Bone marrow failure
Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.
See Haploinsufficiency and Cancer
CHARGE syndrome
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.
See Haploinsufficiency and CHARGE syndrome
Cleidocranial dysostosis
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. Haploinsufficiency and cleidocranial dysostosis are rare diseases.
See Haploinsufficiency and Cleidocranial dysostosis
Copy number variation
Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals.
See Haploinsufficiency and Copy number variation
DiGeorge syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22.
See Haploinsufficiency and DiGeorge syndrome
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome.
See Haploinsufficiency and Dominance (genetics)
Dravet syndrome
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever.
See Haploinsufficiency and Dravet syndrome
Dyskeratosis congenita
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. Haploinsufficiency and Dyskeratosis congenita are rare diseases.
See Haploinsufficiency and Dyskeratosis congenita
Ehlers–Danlos syndrome
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders.
See Haploinsufficiency and Ehlers–Danlos syndrome
Elastin
Elastin is a protein encoded by the ELN gene in humans.
See Haploinsufficiency and Elastin
Expressivity (genetics)
In genetics, expressivity is the degree to which a phenotype is expressed by individuals having a particular genotype.
See Haploinsufficiency and Expressivity (genetics)
FOXP1
Forkhead box protein P1 is a protein that in humans is encoded by the FOXP1 gene.
See Haploinsufficiency and FOXP1
Frontotemporal dementia
Frontotemporal dementia (FTD), also called frontotemporal degeneration disease or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of the brain's frontal and temporal lobes.
See Haploinsufficiency and Frontotemporal dementia
Gene dosage
Gene dosage is the number of copies of a particular gene present in a genome.
See Haploinsufficiency and Gene dosage
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.
See Haploinsufficiency and Genetics
Genetics (journal)
Genetics is a monthly scientific journal publishing investigations bearing on heredity, genetics, biochemistry and molecular biology.
See Haploinsufficiency and Genetics (journal)
Genomics (journal)
Genomics is a peer-reviewed scientific journal in genomics, publishing articles on topics such as comparative genomics, functional genomics, association studies, regulatory DNA elements, and genetics on a genome-wide scale.
See Haploinsufficiency and Genomics (journal)
Genotype
The genotype of an organism is its complete set of genetic material. Haploinsufficiency and genotype are genetics.
See Haploinsufficiency and Genotype
GLUT1 deficiency
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. Haploinsufficiency and GLUT1 deficiency are rare diseases.
See Haploinsufficiency and GLUT1 deficiency
Granulin
Granulin is a protein that in humans is encoded by the GRN gene.
See Haploinsufficiency and Granulin
Haploinsufficiency of A20
Haploinsufficiency of A20 is a rare disease caused by mutations in the gene TNFAIP3.
See Haploinsufficiency and Haploinsufficiency of A20
Holoprosencephaly
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation.
See Haploinsufficiency and Holoprosencephaly
Holt–Oram syndrome
Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems.
See Haploinsufficiency and Holt–Oram syndrome
Locus (genetics)
In genetics, a locus (loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Haploinsufficiency and locus (genetics) are genetics.
See Haploinsufficiency and Locus (genetics)
Marfan syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue.
See Haploinsufficiency and Marfan syndrome
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Haploinsufficiency and mutation are genetics.
See Haploinsufficiency and Mutation
Myelodysplastic syndrome
A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells.
See Haploinsufficiency and Myelodysplastic syndrome
Nature (journal)
Nature is a British weekly scientific journal founded and based in London, England.
See Haploinsufficiency and Nature (journal)
Neuron (journal)
Neuron is a biweekly peer-reviewed scientific journal published by Cell Press, an imprint of Elsevier.
See Haploinsufficiency and Neuron (journal)
Non-allelic homologous recombination
Non-allelic homologous recombination (NAHR) is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles. Haploinsufficiency and non-allelic homologous recombination are genetics.
See Haploinsufficiency and Non-allelic homologous recombination
Null allele
A null allele is a nonfunctional allele (a variant of a gene) caused by a genetic mutation.
See Haploinsufficiency and Null allele
Phenotype
In genetics, the phenotype is the set of observable characteristics or traits of an organism.
See Haploinsufficiency and Phenotype
Ploidy
Ploidy is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes.
See Haploinsufficiency and Ploidy
Polydactyly
Polydactyly or polydactylism, also known as hyperdactyly, is an anomaly in humans and non-human animals resulting in supernumerary fingers and/or toes.
See Haploinsufficiency and Polydactyly
Proline-rich 12
Proline-rich 12 (PRR12) is a protein of unknown function encoded by the gene PRR12.
See Haploinsufficiency and Proline-rich 12
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues.
See Haploinsufficiency and Protein
PRPF31
PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
See Haploinsufficiency and PRPF31
Pulmonary fibrosis
Pulmonary fibrosis is a condition in which the lungs become scarred over time.
See Haploinsufficiency and Pulmonary fibrosis
Retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision.
See Haploinsufficiency and Retinitis pigmentosa
Saccharomyces cerevisiae
Saccharomyces cerevisiae (brewer's yeast or baker's yeast) is a species of yeast (single-celled fungal microorganisms).
See Haploinsufficiency and Saccharomyces cerevisiae
Sonic hedgehog protein
Sonic hedgehog protein (SHH) is encoded for by the SHH gene.
See Haploinsufficiency and Sonic hedgehog protein
Telomerase reverse transcriptase
Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex.
See Haploinsufficiency and Telomerase reverse transcriptase
Tissue culture
Tissue culture is the growth of tissues or cells in an artificial medium separate from the parent organism.
See Haploinsufficiency and Tissue culture
Wild type
The wild type (WT) is the phenotype of the typical form of a species as it occurs in nature.
See Haploinsufficiency and Wild type
Williams syndrome
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body.
See Haploinsufficiency and Williams syndrome
ZTTK syndrome
ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene.
See Haploinsufficiency and ZTTK syndrome
Zygosity
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") is the degree to which both copies of a chromosome or gene have the same genetic sequence.
See Haploinsufficiency and Zygosity
1q21.1 deletion syndrome
1q21.1 deletion syndrome is a rare aberration of chromosome 1.
See Haploinsufficiency and 1q21.1 deletion syndrome
22q13 deletion syndrome
22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22.
See Haploinsufficiency and 22q13 deletion syndrome
References
[1] https://en.wikipedia.org/wiki/Haploinsufficiency
Also known as Haplo sufficiency, Haplo-insufficient, Haplo-sufficiency, Haploinsufficient, Haplosufficiency.