MCID: ADN078
MIFTS: 15

Adnp Syndrome

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Adnp Syndrome

MalaCards integrated aliases for Adnp Syndrome:

Name: Adnp Syndrome 53 25
Mental Retardation, Autosomal Dominant 28 25 73
Helsmoortel-Van Der Aa Syndrome 53 25
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder 25
Adnp-Related Intellectual Disability and Autism Spectrum Disorder 25
Hvdas 25
Mrd28 25

Classifications:



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UMLS 73 C4014538

Summaries for Adnp Syndrome

NIH Rare Diseases : 53 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.

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. Affiliated tissues include heart and brain.

Genetics Home Reference : 25 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.

Wikipedia : 76 Activity-dependent neuroprotector homeobox is a protein that in humans is encoded by the ADNP... more...

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
3 alacrima, achalasia, and mental retardation syndrome 10.3

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:

41
Heart, Brain

Publications for Adnp Syndrome

Articles related to Adnp Syndrome:

# Title Authors Year
1
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. ( 29475819 )
2018
2
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome. ( 29899371 )
2018
3
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome. ( 29780943 )
2018
4
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

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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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