MCID: ADN078
MIFTS: 13

Adnp Syndrome

Categories: Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Adnp Syndrome

MalaCards integrated aliases for Adnp Syndrome:

Name: Adnp Syndrome 49 24
Mental Retardation, Autosomal Dominant 28 24 69
Helsmoortel-Van Der Aa Syndrome 49 24
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder 24
Adnp-Related Intellectual Disability and Autism Spectrum Disorder 24
Hvdas 24
Mrd28 24

Classifications:



External Ids:

UMLS 69 C4014538

Summaries for Adnp Syndrome

NIH Rare Diseases : 49 ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract. ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP genemutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism. Last updated: 2/18/2016

MalaCards based summary : Adnp Syndrome, also known as mental retardation, autosomal dominant 28, is related to helsmoortel-van der aa syndrome and adnp-related intellectual disability and autism spectrum disorder. An important gene associated with Adnp Syndrome is ADNP (Activity Dependent Neuroprotector Homeobox). Affiliated tissues include heart and brain.

Genetics Home Reference : 24 ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.

Related Diseases for Adnp Syndrome

Diseases related to Adnp Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 helsmoortel-van der aa syndrome 12.9
2 adnp-related intellectual disability and autism spectrum disorder 11.5

Symptoms & Phenotypes for Adnp Syndrome

Drugs & Therapeutics for Adnp Syndrome

Search Clinical Trials , NIH Clinical Center for Adnp Syndrome

Genetic Tests for Adnp Syndrome

Anatomical Context for Adnp Syndrome

MalaCards organs/tissues related to Adnp Syndrome:

38
Heart, Brain

Publications for Adnp Syndrome

Articles related to Adnp Syndrome:

# Title Authors Year
1
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. ( 27031564 )
2016

Variations for Adnp Syndrome

ClinVar genetic disease variations for Adnp Syndrome:

6
# 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 NM_001282531.2(ADNP): c.2156dup (p.Tyr719Terfs) duplication Pathogenic rs1135401808 GRCh37 Chromosome 20, 49509095: 49509095
7 ADNP NM_001282531.2(ADNP): c.1221_1222delAA (p.Lys408Valfs) deletion Pathogenic GRCh37 Chromosome 20, 49510029: 49510030
8 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041116 GRCh37 Chromosome 20, 49509063: 49509063
9 ADNP NM_001282531.2(ADNP): c.2318_2319insA (p.Tyr774Valfs) insertion Pathogenic rs1057518978 GRCh38 Chromosome 20, 50892396: 50892396
10 ADNP NM_015339.4(ADNP): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs1135401791 GRCh38 Chromosome 20, 50894197: 50894197

Expression for Adnp Syndrome

Search GEO for disease gene expression data for Adnp Syndrome.

Pathways for Adnp Syndrome

GO Terms for Adnp Syndrome

Sources for Adnp Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
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50 NINDS
51 Novoseek
53 OMIM
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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