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Concept in genetics
deficiency (DeVivo syndrome) Haploinsufficiency of A20 Haploinsufficiency of PRR12 Holoprosencephaly caused by haploinsufficiency in the Sonic Hedgehog gene
Haploinsufficiency
Medical condition
Haploinsufficiency of A20 is a rare disease caused by mutations in the gene TNFAIP3. This gene is also known as A20. These are variable even within families
Haploinsufficiency_of_A20
Mammalian protein found in humans
with active SLE. Germline haploinsufficiency of CTLA-4 leads to CTLA-4 deficiency or CHAI disease (CTLA4 haploinsufficiency with autoimmune infiltration)
Cytotoxic T-lymphocyte associated protein 4
Cytotoxic_T-lymphocyte_associated_protein_4
Genetic immune disorder
Autosomal dominant CTLA‐4 haploinsufficiency with autoimmune infiltration, also known as CHAI disease or simply CHAI, is a rare genetic disorder of the
Autosomal dominant CTLA‐4 haploinsufficiency with autoimmune infiltration
Autosomal_dominant_CTLA‐4_haploinsufficiency_with_autoimmune_infiltration
Degree of similarity of the alleles in an organism
for health. This is called haploinsufficiency. For instance, a single copy of the Kmt5b gene leads to haploinsufficiency and results in a skeletal muscle
Zygosity
Mammalian protein found in Homo sapiens
with short stature in humans if mutated or present in only one copy (haploinsufficiency). SHOX was first found during a search for the cause of short stature
Short-stature_homeobox_gene
Genetic disorder
One proposal states that the depolarization of astrocytes caused by haploinsufficiency of the ATP1A2 Na+ /K+ -ATPase causes increased release of compounds
Familial_hemiplegic_migraine
Medical condition
gene expression and can result in SON haploinsufficiency. ZTTK syndrome individuals with SON haploinsufficiency display decreased mRNA expression and
ZTTK_syndrome
Medical condition
GATA2 deficiency Other names GATA2 haploinsufficiency, GATA2 deficiency syndrome
GATA2_deficiency
Protein-coding gene in the species Homo sapiens
B-type is a protein that in humans is encoded by the NFIB gene. NFIB haploinsufficiency is also associated with intellectual disability and macrocephaly,
Nuclear_factor_1_B-type
Protein-coding gene in the species Homo sapiens
TN-X protein due to mutations or not enough of it being produced (haploinsufficiency) can lead to a rare condition called classical-like Ehlers–Danlos
Tenascin_X
Human genetic disorder
ribosome assembly. Mutations in TCOF1 lead to haploinsufficiency of the treacle protein. Haploinsufficiency occurs when a diploid organism has only one
Treacher_Collins_syndrome
Medical condition
subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics. 46 (9): 598–606
Kleefstra_syndrome
Absence of skin at birth
This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. Review Edwards disease This condition
Aplasia_cutis_congenita
Medical condition
Pouncey J, Stevens, C., Mackay-Loder L, Terespolsky D, and 31 others. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent
Lamb–Shaffer_syndrome
Genetic disorder characterized by deformity of the skull, face, and/or limbs
Robin. While Nager syndrome is thought to be most often caused by haploinsufficiency of the spliceosomal factor SF3B4, in over one third of patients tested
Nager_acrofacial_dysostosis
Medical condition
ICD-9-CM: 756.59 OMIM: 127300 MeSH: C537119 DiseasesDB: 31950 External resources GeneReviews: SHOX-Related Haploinsufficiency Disorders Orphanet: 240
Léri–Weill_dyschondrosteosis
Medical condition
in one of the two parental GATA2 genes. The mutation results in a haploinsufficiency (i.e. reduction) in the levels of the gene's product, the GATA2 transcription
Emberger_syndrome
Genetic disorder
GTF2I, GTF2IRD1, and LIMK1 are among the genes typically deleted. Haploinsufficiency for the ELN gene, which codes for the extracellular matrix protein
Williams_syndrome
Genetic disorder involving connective tissue
Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency. It is associated with variable expressivity; complete penetrance
Marfan_syndrome
Genetic disorder
DC (April 2012). "Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated aging". Mechanisms of Ageing and Development. 133
Down_syndrome
Protein-coding gene in the species Homo sapiens
central role in allergy and immunity against worm infections. GATA3 haploinsufficiency (i.e. loss of one or the two inherited GATA3 genes) results in a congenital
GATA3
Medical condition
of this disorder was described in 2007. This disorder is due to a haploinsufficiency of the transcription factor 4 (TCF4) gene which is located on the
Pitt–Hopkins_syndrome
Medical condition
autosomal dominant inheritance and is variable in its expressivity. Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported
Otodental_syndrome
Birth defect of the collarbones, skull, and teeth
its cause is not known. The main mechanism is thought to involve haploinsufficiency caused by mutations in CBFA1 (also known as Runx2), a gene located
Cleidocranial_dysostosis
Protein-coding gene in the species Homo sapiens
Lymphotoxin beta receptor, Nucleoporin 62, RANK, TANK, and TNFSF14. Haploinsufficiency of TRAF3 in humans is associated with various immunodeficiency and
TRAF3
Protein-coding gene in the species Homo sapiens
and attend mainstream schools. Loss of function from monoallelic haploinsufficiency drives the condition in an autosomal dominant pattern, with a 2024
Nuclear_receptor_4A2
Variant of DNA sequence at a locus
Allelotype Allozyme Evolution Genealogical DNA test Allele frequency Haploinsufficiency Meiosis Mendelian error Mendelian inheritance Mitosis Penetrance Polymorphism
Allele
Medical condition
with the Sonic hedgehog (SHH) pathway and can cause anophthalmia. Haploinsufficiency of PRR12 is also known to result in anophthalmia among other abnormalities
Anophthalmia
Genetic overgrowth disorder
Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. (April 2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nat. Genet. 30 (4): 365–6. doi:10
Sotos_syndrome
Topics referred to by the same term
station Kol Chai, Israeli radio station Autosomal dominant CTLA‐4 haploinsufficiency with autoimmune infiltration (CHAI), a genetic disorder of the immune
Chai
Alteration in the nucleotide sequence of a genome
gene product is not enough for a normal phenotype (this is called haploinsufficiency). Examples of diseases caused by a loss-of-function mutation include
Mutation
American neurologist
Budisteanu, Magdalena; Arghir, Aurora; Kosik, Kenneth S. (1 April 2016). "Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional
Kenneth_S._Kosik
Medical condition
dominant mutations are known or presumed to cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein
MonoMAC
Peruvian breed of dog
(2017-07-14). "The dental phenotype of hairless dogs with FOXI3 haploinsufficiency". Scientific Reports. 7 (1): 5459. Bibcode:2017NatSR...7.5459K. doi:10
Peruvian_Hairless_Dog
Medical condition
— reduce functional protein levels and are thought to act through haploinsufficiency; these have been associated with comparatively milder phenotypes and
CHAMP1-related neurodevelopmental disorder
CHAMP1-related_neurodevelopmental_disorder
Cell junction involved in cell-to-cell adhesion
with Hailey–Hailey disease, though the cause is not autoimmune but genetic. A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein
Desmosome
Genetic theory of cancer formation
modification) may encourage a malignant phenotype, which is termed haploinsufficiency. Field cancerization may be an extended form of the Knudson hypothesis
Two-hit_hypothesis
Protein found in humans
all mutation types lead to a patient phenotype, it is thought that haploinsufficiency for JAG1 is the likely disease mechanism of action. Although individuals
JAG1
Israeli-American researcher
"CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency". Science. 363 (6424) eaau0629. doi:10.1126/science.aau0629. ISSN 1095-9203
Nadav_Ahituv
Mammalian protein found in humans
PMID 15046607. Nojima A, Yamashita M, Yoshida Y, et al. (2013-01-01). "Haploinsufficiency of akt1 prolongs the lifespan of mice". PLOS ONE. 8 (7) e69178. Bibcode:2013PLoSO
MTOR
Dog breed
M. S. (2017). "The dental phenotype of hairless dogs with FOXI3 haploinsufficiency". Scientific Reports. 7 (1): 5459. Bibcode:2017NatSR...7.5459K. doi:10
Chinese_Crested_Dog
Protein-coding gene in the species Homo sapiens
G-X-HydroxyP motif, which does not significantly occur in PRR12. Haploinsufficiency of PRR12 can result in anophthalmia among other abnormalities GRCh38:
Proline-rich_12
Medical condition
neurodevelopmental disorder, is a rare novel genetic disorder arising from haploinsufficiency of the PURA gene. It codes for the protein PURA (name is compliant
PURA_syndrome
Protein-coding gene in the species Homo sapiens
PMC 1356129. PMID 16344560. Cabrera PV, Amano M, Mitoma J, et al. (2006). "Haploinsufficiency of C2GnT-I glycosyltransferase renders T lymphoma cells resistant
GCNT1
Haemoglobin (hb) Haemophilia Haplodiploidy Haploid Haploidization Haploinsufficiency Haplotype Hardy–Weinberg law Harlequin chromosome HAT medium Hayflick
Index_of_genetics_articles
Genetic disorder involving an imprinted genomic region
(often those with deletions) may have hypopigmented fundi due to OCA2 haploinsufficiency. PWS is related to an epigenetic phenomenon known as imprinting. Normally
Prader–Willi_syndrome
Protein found in humans
KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (Jan 1999). "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma"
Desmoplakin
Rare genetic disorder
the disease, hence the condition is hypothesized to occur due to haploinsufficiency—in which the remaining normal copy does not produce enough protein
O'Donnell-Luria–Rodan syndrome
O'Donnell-Luria–Rodan_syndrome
American medical professor
Wang, Zichen; Gallagher, Stuart J.; Hersey, Peter (2018). "SIRT6 haploinsufficiency induces BRAFV600E melanoma cell resistance to MAPK inhibitors via
Emily_Bernstein
Protein-coding gene in humans
NA, Riyadh MA, Stradleigh TW, et al. (August 2017). "Germline Chd8 haploinsufficiency alters brain development in mouse". Nature Neuroscience. 20 (8): 1062–1073
CHD8
Mammalian protein found in Homo sapiens
T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N (April 2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nat. Genet. 30 (4): 365–6. doi:10
NSD1
Human gene and protein
independent validation. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of
HIRA
Swelling due to a compromised lymphatic system
genes. These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein
Lymphedema
Form of dynamic modification
syndrome, an autosomal dominant disorder, has been linked recently to haploinsufficiency of CHD7, which encodes the CHD family ATPase CHD7. Chromatin architectural
Chromatin_remodeling
Genetic protein
abnormalities of brain development, or mental retardation of Down syndrome. Haploinsufficiency of SIM1 has been shown to cause severe early-onset obesity in a human
SIM1
Presence of abundant hair between the eyebrows
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Joubert syndrome 35 KBG syndrome Kleefstra syndrome 1 Lissencephaly
Unibrow
Medical condition
years or in a person's 30s or 40s. The cause of the disease is a haploinsufficiency of the enzyme ATP2C1; the ATP2C1 gene is located on chromosome 3,
Hailey–Hailey_disease
Rare genetic disorder in the human body
will instead selectively display the defective gene, resulting in haploinsufficiency of the GNAS1 product in most tissues, and giving the phenotype of
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Genetic disorder
Ravenswaaij-Arts, Conny M. A.; Wassink-Ruiter, Jolien S. Klein (August 2016). "Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild
Witteveen–Kolk_syndrome
Medical condition
encephalopathy is an autosomal dominant genetic disorder caused by haploinsufficiency of the SynGAP protein, usually due to the presence of a heterozygous
SYNGAP1-related intellectual disability
SYNGAP1-related_intellectual_disability
Chromosomal deletion syndrome
phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf–Hirschhorn syndrome candidate 1 (WHSC1), which is
Wolf–Hirschhorn_syndrome
Symbol of various advocacy campaigns
assault (teal & purple), hypotonia (lime green, blue, & pink), MEF2C haploinsufficiency syndrome (lime green & black, with DNA strand), medullary sponge kidney
Green_ribbon
Medical condition
in one of the two parental GATA2 genes lead to a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, the GATA2 transcription
Chronic myelomonocytic leukemia
Chronic_myelomonocytic_leukemia
Protein-coding gene in the species Homo sapiens
Lindern M, Felice AE, Patrinos GP, Philipsen S (September 2010). "Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence
KLF1
Protein-coding gene in the species Homo sapiens
Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA (2010). "Haploinsufficiency of TAB2 causes congenital heart defects in humans". Am J Hum Genet
MAP3K7IP2
Mouse mutant
Biamonte F, Marrone C, Mercuri NB, Keller F (March 2009). "Reelin haploinsufficiency reduces the density of PV+ neurons in circumscribed regions of the
Reeler
Protein-coding gene in the species Homo sapiens
PRPF31 can therefore be thought of as a variation of haploinsufficiency. This variant of haploinsufficiency is only seen in two other human diseases: Erythropoietic
PRPF31
Group of neurological disorders causing seizures
Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, et al. (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy
Epilepsy
Hierarchical outline list of articles related to genetics
genetic marker genetic screening genome genotype germ line haploid haploinsufficiency hematopoietic stem cell heterozygous highly conserved sequence holoprosencephaly
Outline_of_genetics
Medical condition
CTLA-4 than those with CTLA-4 haploinsufficiency, the condition frequently presents earlier in life. CTLA-4 haploinsufficiency results in abnormal regulatory
Autoimmune_enteropathy
Protein-coding gene in the species Homo sapiens
the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome;
40S ribosomal protein S4, Y isoform 1
40S_ribosomal_protein_S4,_Y_isoform_1
Medical condition caused by chromosomal abnormality
playing a role in the development of some of the signs and symptoms. Haploinsufficiency of the TBX1 gene (T-box transcription factor TBX1) is thought to be
DiGeorge_syndrome
Medical condition
PMP22 (peripheral myelin protein 22 at locus 17p11.2). PMP22 displays haploinsufficiency, such that the normal copy of the gene's activity is insufficient
Hereditary neuropathy with liability to pressure palsy
Hereditary_neuropathy_with_liability_to_pressure_palsy
Rare genetic disorder
not produce enough protein for proper function—a mechanism known as haploinsufficiency. Reported cases in the medical literature have been de novo, meaning
Skraban–Deardorff_syndrome
Chinese-American physician-scientist
Sakovich, IS; et al. (2023). "Defining AIOLOS-associated disease by haploinsufficiency and previously unrecognized AIOLOS functional domains". Journal of
Xiao_P._Peng
Protein-coding gene in the species Homo sapiens
772G>A transition (i.e. founder mutation in Tuscany These data suggest haploinsufficiency as the main disease mechanism for heterozygous truncating mutations
Myosin binding protein C, cardiac
Myosin_binding_protein_C,_cardiac
Medical condition
channels that are presumably non-functional. This will largely result in haploinsufficiency, though in some cases the truncated proteins may be able to coassemble
Achromatopsia
Medical condition
Bolze A, Mahlaoui N, Byun M, et al. (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135):
Isolated_congenital_asplenia
Condition in which the jaw is small
syndrome due to CREBBP mutations Rubinstein–Taybi syndrome due to EP300 haploinsufficiency Schwartz–Jampel syndrome type 1 Seckel syndrome 1, 2, 5, 8, and 9
Micrognathism
Protein-coding gene in the species Homo sapiens
This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the intellectual disability found
SOX8
Overview of the events of 2023 in science
Judith B.; Acuna, Claudio; Mall, Moritz (14 February 2023). "MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that
January–March_2023_in_science
Rare genetic disorder
gain-of-function) and frameshift and nonsense variants that result in haploinsufficiency or protein truncation. Pathogenic variants resulting in loss-of-function
DHX30_syndrome
Protein complex
lifespan in D. melanogaster with no reduction in fertility and Akt haploinsufficiency, an mTORC2 downstream target, extended lifespan in mice. The mTORC2
MTORC2
Protein-coding gene in the species Homo sapiens
the dimerized mutant proteins. VWS mutations appear to result in haploinsufficiency while PPS mutations may be dominant negative in nature. The spectrum
IRF6
DMXL2 plays a role in puberty and is a regulator of Notch signalling. Haploinsufficiency of DMXL2 causes delayed puberty, reduced fertility, and abnormal glucose
Rabconnectin-3A
Protein-coding gene in the species Homo sapiens
of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice". Nat. Genet. 32 (1):
CLIP2
Obesity caused by a mutation in a single gene
only on one of her SIM1 alleles, demonstrating heterozygosity and haploinsufficiency for the loss-of-function mutation suggesting that SIM1-mediated monogenic
Monogenic_obesity
Pharmaceutical compound
FRM-0334 on Progranulin Levels in Patients With Progranulin Gene Haploinsufficiency: A Randomized Clinical Trial". JAMA Network Open. 4 (9): e2125584
FRM-0334
Rare genetic syndrome
characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms". J. Med. Genet
22q13_deletion_syndrome
Congenital disorder of the reproductive system
The aetiology of Turner syndrome phenotype can be the result of haploinsufficiency, where a portion of critical genes are rendered inactive during embryogenesis
Gonadal_dysgenesis
Formation of granulocyte cells in the bone marrow
Ling; Broglie, Larisa; Eklund, Elizabeth A. (2018-03-15). "TP53 Haploinsufficiency Rescues Emergency Granulopoiesis in FANCC −/− Mice". The Journal of
Granulopoiesis
Field of study
affected tissues. Overall, silencing of the C9orf72 gene may result in haploinsufficiency, and may therefore influence the presentation of disease. The activity
Neuroepigenetics
Medical condition
Reversade, Bruno; Munro, Colin S; McLean, W H Irwin (October 14, 2012). "Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar
Acrokeratoelastoidosis of Costa
Acrokeratoelastoidosis_of_Costa
Protein-coding gene in the species Homo sapiens
"Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency". Neurology. 77 (24): 2105–14. doi:10.1212/WNL.0b013e31823dc51e. PMID 22131542
Filamin-C
Protein-coding gene in the species Homo sapiens
Bruno (2022-06-23). "HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring"
SMCHD1
Genetic condition in which a male has an extra Y chromosome
colleagues of the X/Y chromosome pseudoautosomal region (PAR1) SHOX gene, haploinsufficiency of which leads to short stature in Turner syndrome (45,X). It was
XYY_syndrome
Protein-coding gene in the species Homo sapiens
catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a variety of Kleefstra syndrome involving
Methyl-CpG binding domain protein 5
Methyl-CpG_binding_domain_protein_5
Japanese geneticist
Ohta, T; Kishino, T; Fukushima, Y; Niikawa, N; Matsumoto, N (2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nature Genetics. 30 (4): 365–6. doi:10
Naomichi_Matsumoto
Disease characterized by hypoparathyroidism, sensorineural deafness and renal disease
mapped to chromosome 10p (Gene Map Locus: 10pter-p13 or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3 or mutations
Barakat_syndrome
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