MCID: ADN076
MIFTS: 6

Adnp-Related Intellectual Disability and Autism Spectrum Disorder

Categories: Genetic diseases

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 23
Helsmoortel-Van Der Aa Syndrome 23
Adnp-Related Id/asd 23

Characteristics:

GeneReviews:

23
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...

Classifications:



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 helsmoortel-van der aa syndrome and adnp syndrome. 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 in the Adnp-Related Intellectual Disability and Autism Spectrum Disorder family:

Intellectual Disability and/or Autism Spectrum Disorder, Ash1l-Related

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

id Related Disease Score Top Affiliating Genes
1 helsmoortel-van der aa syndrome 12.8
2 adnp syndrome 11.4
3 autism spectrum disorder 10.2
4 intellectual disability 10.2

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:

id Title Authors Year
1
ADNP-Related Intellectual Disability and Autism Spectrum Disorder ( 27054228 )
1993

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

ClinVar genetic disease variations for Adnp-Related Intellectual Disability and Autism Spectrum Disorder:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 ADNP NM_181442.3(ADNP): c.2491_2494delTTAA (p.Leu831Ilefs) deletion Pathogenic rs587777522 GRCh37 Chromosome 20, 49508757: 49508760
2 ADNP NM_015339.2(ADNP): c.2496_2499delTAAA (p.Asn832Lysfs) deletion Pathogenic rs587777523 GRCh37 Chromosome 20, 49508752: 49508755
3 ADNP NM_001282531.2(ADNP): c.1211C> A (p.Ser404Ter) single nucleotide variant Pathogenic rs587777524 GRCh37 Chromosome 20, 49510040: 49510040
4 ADNP NM_001282531.2(ADNP): c.2808delC (p.Tyr936Terfs) deletion Pathogenic rs587777525 GRCh37 Chromosome 20, 49508443: 49508443
5 ADNP NM_015339.3(ADNP): c.2157C> G (p.Tyr719Ter) single nucleotide variant Pathogenic rs587777526 GRCh37 Chromosome 20, 49509094: 49509094
6 ADNP ADNP, 4-BP DEL, TTTA deletion Pathogenic
7 ADNP ADNP, 1-BP INS, T insertion Pathogenic
8 ADNP ADNP, 2-BP DEL, TT deletion Pathogenic
9 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041116 GRCh37 Chromosome 20, 49509063: 49509063
10 ADNP NM_001282531.2(ADNP): c.2318_2319insA (p.Tyr774Valfs) insertion Pathogenic rs1057518978 GRCh37 Chromosome 20, 49508933: 49508933
11 ADNP NM_001282531.2(ADNP): c.2156dup (p.Tyr719Terfs) duplication Pathogenic rs1135401808 GRCh37 Chromosome 20, 49509095: 49509095
12 ADNP NM_015339.4(ADNP): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs1135401791 GRCh38 Chromosome 20, 50894197: 50894197

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
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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