MCID: ADN076
MIFTS: 10

Adnp-Related Intellectual Disability and Autism Spectrum Disorder

Aliases & Classifications for Adnp-Related Intellectual Disability and Autism Spectrum...

MalaCards integrated aliases for Adnp-Related Intellectual Disability and Autism Spectrum Disorder:

Name: Adnp-Related Intellectual Disability and Autism Spectrum Disorder 24
Helsmoortel-Van Der Aa Syndrome 24
Adnp-Related Id/asd 24

Characteristics:

GeneReviews:

24
Penetrance There is no evidence of reduced penetrance; all described pathogenic variants are de novo. the extent and severity of clinical findings vary among individuals.

Summaries for Adnp-Related Intellectual Disability and Autism Spectrum...

MalaCards based summary : Adnp-Related Intellectual Disability and Autism Spectrum Disorder, also known as helsmoortel-van der aa syndrome, is related to adnp syndrome and ptosis. An important gene associated with Adnp-Related Intellectual Disability and Autism Spectrum Disorder is ADNP (Activity Dependent Neuroprotector Homeobox).

GeneReviews: NBK355518

Related Diseases for Adnp-Related Intellectual Disability and Autism Spectrum...

Diseases related to Adnp-Related Intellectual Disability and Autism Spectrum Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 adnp syndrome 11.8
2 ptosis 10.5
3 blepharophimosis 10.5
4 cerebral palsy 10.5
5 constipation 10.5
6 mood disorder 10.5
7 pathologic nystagmus 10.5
8 strabismus 10.4
9 autism 10.4
10 alacrima, achalasia, and mental retardation syndrome 10.4
11 helsmoortel-van der aa syndrome 10.4
12 autism spectrum disorder 10.4
13 sleep disorder 10.4
14 mechanical strabismus 10.4
15 farsightedness 10.4
16 hypotonia 10.4
17 cerebral visual impairment 10.4

Graphical network of the top 20 diseases related to Adnp-Related Intellectual Disability and Autism Spectrum Disorder:



Diseases related to Adnp-Related Intellectual Disability and Autism Spectrum Disorder

Symptoms & Phenotypes for Adnp-Related Intellectual Disability and Autism Spectrum...

Drugs & Therapeutics for Adnp-Related Intellectual Disability and Autism Spectrum...

Search Clinical Trials , NIH Clinical Center for Adnp-Related Intellectual Disability and Autism Spectrum Disorder

Genetic Tests for Adnp-Related Intellectual Disability and Autism Spectrum...

Anatomical Context for Adnp-Related Intellectual Disability and Autism Spectrum...

Publications for Adnp-Related Intellectual Disability and Autism Spectrum...

Articles related to Adnp-Related Intellectual Disability and Autism Spectrum Disorder:

(show all 20)
# Title Authors PMID Year
1
Large-scale discovery of novel genetic causes of developmental disorders. 4
25533962 2015
2
Synaptic, transcriptional and chromatin genes disrupted in autism. 4
25363760 2014
3
Refining analyses of copy number variation identifies specific genes associated with developmental delay. 4
25217958 2014
4
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 4
25169753 2014
5
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. 4
25057125 2014
6
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 4
24531329 2014
7
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 4
23160955 2012
8
Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. 4
17720885 2007
9
Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. 4
10037502 1999
10
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. 38
29724491 2019
11
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome. 38
29899371 2018
12
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome. 38
29780943 2018
13
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. 38
29475819 2018
14
Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes. 38
29795351 2018
15
Mutations in ADNP affect expression and subcellular localization of the protein. 38
29911927 2018
16
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray. 38
28807863 2017
17
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. 38
28407407 2017
18
Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease. 38
27870441 2017
19
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. 38
27031564 2016
20
ADNP-Related Intellectual Disability and Autism Spectrum Disorder 38
27054228 2016

Variations for Adnp-Related Intellectual Disability and Autism Spectrum...

Expression for Adnp-Related Intellectual Disability and Autism Spectrum...

Search GEO for disease gene expression data for Adnp-Related Intellectual Disability and Autism Spectrum Disorder.

Pathways for Adnp-Related Intellectual Disability and Autism Spectrum...

GO Terms for Adnp-Related Intellectual Disability and Autism Spectrum...

Sources for Adnp-Related Intellectual Disability and Autism Spectrum...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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