MCID: DF1001
MIFTS: 10

Deaf1-Associated Disorders

Categories: Ear diseases, Gastrointestinal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deaf1-Associated Disorders

MalaCards integrated aliases for Deaf1-Associated Disorders:

Name: Deaf1-Associated Disorders 52
Deaf1-Associated Neurodevelopmental Disorder 52
Deaf1 Autosomal Recessive Mutations 52
Deaf1 Autosomal Dominant Mutations 52
Deaf1 Related Disorders 52
Deaf1 Mutations 52

Classifications:



Summaries for Deaf1-Associated Disorders

NIH Rare Diseases : 52 DEAF1-related disorders are neurologic diseases that mainly present with intellectual disability , speech impairment and motor developmental delay . Additional features that have being described include seizures , brain malformations, behavioral problems, autism , stomach and/or intestinal problems, and skeletal problems (flat foot or hip dislocation). Some people with DEAF1-related disorders may also have some features that resemble another disease known as Smith-Magenis syndrome , such as intellectual disability, dysmorphic features, and sleep disturbances. . DEAF1-related disorders are caused by changes (known as pathogenic variants, or mutations ) in the DEAF1 gene which activates or represses several other genes that are important for brain cell (neuron) development. There are two types of DEAF-1 disorders that have been described: an autosomal recessive DEAF-1 disorder (known as intellectual disability-epilepsy-extrapyramidal syndrome , or dyskinesia, seizures, and intellectual developmental disorder ) and an autosomal dominant DEAF-1 disorder known as autosomal dominant intellectual disability 24 . Treatment is directed at the specific symptoms present.

MalaCards based summary : Deaf1-Associated Disorders, also known as deaf1-associated neurodevelopmental disorder, is related to vulto-van silfhout-de vries syndrome and alacrima, achalasia, and mental retardation syndrome. Affiliated tissues include brain.

Related Diseases for Deaf1-Associated Disorders

Diseases related to Deaf1-Associated Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vulto-van silfhout-de vries syndrome 10.3
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures 10.2
4 autism 10.0
5 microcephaly 10.0
6 epilepsy 10.0
7 hypotonia 10.0
8 spasticity 10.0

Graphical network of the top 20 diseases related to Deaf1-Associated Disorders:



Diseases related to Deaf1-Associated Disorders

Symptoms & Phenotypes for Deaf1-Associated Disorders

Drugs & Therapeutics for Deaf1-Associated Disorders

Search Clinical Trials , NIH Clinical Center for Deaf1-Associated Disorders

Genetic Tests for Deaf1-Associated Disorders

Anatomical Context for Deaf1-Associated Disorders

MalaCards organs/tissues related to Deaf1-Associated Disorders:

40
Brain

Publications for Deaf1-Associated Disorders

Articles related to Deaf1-Associated Disorders:

# Title Authors PMID Year
1
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. 52
26048982 2015
2
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 61
28940898 2017

Variations for Deaf1-Associated Disorders

Expression for Deaf1-Associated Disorders

Search GEO for disease gene expression data for Deaf1-Associated Disorders.

Pathways for Deaf1-Associated Disorders

GO Terms for Deaf1-Associated Disorders

Sources for Deaf1-Associated Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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