|
Intellectual Disability
|
0.470 |
Biomarker
|
group |
HPO |
|
|
|
|
Intellectual Disability
|
0.470 |
Biomarker
|
group |
BEFREE |
Deformed epidermal autoregulatory factor-1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development, has recently been implicated in a series of intellectual disability-related neurodevelopmental anomalies termed, in this study, as DEAF1-associated neurodevelopmental disorder (DAND).
|
28940898 |
2017 |
|
Intellectual Disability
|
0.470 |
Biomarker
|
group |
BEFREE |
Retinoic acid is crucial for early development of the central neural system, and DEAF1 is associated with intellectual disability.
|
26743651 |
2016 |
|
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
|
26834045 |
2016 |
|
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Deleterious mutations within the DNA binding domain of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of neurodevelopmental disorders including intellectual disabilities and autism spectrum disorders.
|
31783086 |
2020 |
|
Intellectual Disability
|
0.470 |
Biomarker
|
group |
CTD_human |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
|
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
A recent report has shown dominant DEAF1 mutations to occur de novo in patients with intellectual disability.
|
26048982 |
2015 |
|
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.
|
24726472 |
2014 |
|
Intellectual Disability
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems Vulto-van Silfhout et al.
|
25091821 |
2014 |
|
Speech Disorders
|
0.120 |
GeneticVariation
|
group |
BEFREE |
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
|
24726472 |
2014 |
|
Speech Disorders
|
0.120 |
Biomarker
|
group |
HPO |
|
|
|
|
Speech Disorders
|
0.120 |
GeneticVariation
|
group |
BEFREE |
Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems.
|
25091821 |
2014 |
|
Gait abnormality
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Sleep Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Abnormality of the cerebellum
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
Leukoencephalopathy
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
|
Leukoencephalopathy
|
0.020 |
GeneticVariation
|
group |
BEFREE |
We conclude that this DEAF1 gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome.
|
26834045 |
2016 |
|
Neurodevelopmental Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Deleterious mutations within the DNA binding domain of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of neurodevelopmental disorders including intellectual disabilities and autism spectrum disorders.
|
31783086 |
2020 |
|
Neurodevelopmental Disorders
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Our results demonstrate that variants located within the SAND or NLS domains significantly reduce DEAF1 transcriptional regulatory activities and are thus, likely to contribute to the underlying clinical concerns in DAND patients.
|
28940898 |
2017 |
|
Adenocarcinoma
|
0.010 |
Biomarker
|
group |
BEFREE |
Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas.
|
11705868 |
2001 |
|
Mental disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The association with major depression, suicide, and panic disorder of a new functional 5-HT1A polymorphism at C(-1019)G that selectively blocks repression of the 5-HT1A autoreceptor by NUDR further suggests a causative role for altered regulation of this receptor in predisposition to mental illness.
|
15534042 |
2004 |
|
Malignant Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
This is the first report of genetic alterations in the spn gene in a human malignancy and suggests that genetic alterations in spn and the resulting immunohistochemical phenotypes based on SPN subcellular localization in CRCs may be useful in determining prognosis of patients with subtypes of CRC.
|
11705868 |
2001 |
|
Diabetes Mellitus
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Loss of Deaf1 function leads to reduced peripheral tissue antigen expression in lymph node stromal cells and may contribute to a breakdown in peripheral tolerance, while reduced Adora1 function results in an early intrinsic alpha cell defect that may explain the hyperglucagonemia and resulting beta cell stress observed prior to the onset of diabetes.
|
24682832 |
2014 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Suppressin (SPN), a novel inhibitor of the entry into the cell cycle, has properties of a tumor suppressor gene; however, its role in the development and progression of a human malignancy is not studied.
|
11705868 |
2001 |
|
Mood Disorders
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Cell-specific regulation by Deaf-1 could underlie region-specific alterations in 5-HT1A receptor expression in different mood disorders.
|
16467535 |
2006 |