HVDAS
MCID: HLS003
MIFTS: 47

Helsmoortel-Van Der Aa Syndrome (HVDAS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Helsmoortel-Van Der Aa Syndrome

MalaCards integrated aliases for Helsmoortel-Van Der Aa Syndrome:

Name: Helsmoortel-Van Der Aa Syndrome 57 12 20 43 58 72 36 29 6 15
Hvdas 57 12 20 43 58 72
Mental Retardation, Autosomal Dominant 28 57 43 72 70
Mrd28 57 12 43 72
Adnp Syndrome 20 43 58
Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder 20 58
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder 43
Adnp-Related Intellectual Disability and Autism Spectrum Disorder 43
Mental Retardation, Autosomal Dominant 28; Mrd28 57
Autosomal Dominant Mental Retardation 28 12
Syndrome, Helsmoortel-Van Der Aa 39

Characteristics:

Orphanet epidemiological data:

58
adnp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable extraneurologic features


HPO:

31
helsmoortel-van der aa syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Helsmoortel-Van Der Aa Syndrome

MedlinePlus Genetics : 43 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.Individuals with ADNP syndrome have mild to severe intellectual disability and delayed development of speech and motor skills such as sitting and walking. Some affected individuals are never able to speak. People with this disorder exhibit features typical of autism spectrum disorder, including repetitive behaviors and difficulty with social interactions. ADNP syndrome is also associated with mood disorders or behavioral problems, such as anxiety, temper tantrums, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder, or sleep problems.Many people with ADNP syndrome have distinctive facial features, which most commonly include a prominent forehead, a high hairline, outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures), droopy eyelids (ptosis), a broad nasal bridge, and a thin upper lip. These individuals may also have unusually shaped ears or hand and finger abnormalities. Eye and vision abnormalities, such as eyes that do not point in the same direction (strabismus) and farsightedness (hyperopia), also occur in ADNP syndrome. Some people with this condition have early appearance (eruption) of primary (baby) teeth.Some people with ADNP syndrome have weak muscle tone (hypotonia) and feeding difficulties in infancy. They may also have digestive system problems, such as backflow of stomach acids into the esophagus (gastroesophageal reflux), vomiting, and constipation. Other features that occur in ADNP syndrome include obesity, seizures, and heart abnormalities.

MalaCards based summary : Helsmoortel-Van Der Aa Syndrome, also known as hvdas, is related to alacrima, achalasia, and mental retardation syndrome and adnp-related intellectual disability and autism spectrum disorder. An important gene associated with Helsmoortel-Van Der Aa Syndrome is ADNP (Activity Dependent Neuroprotector Homeobox), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. The drugs Ketamine and Anesthetics, Dissociative have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and heart, and related phenotypes are neurological speech impairment and delayed speech and language development

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

GARD : 20 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 gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.

OMIM® : 57 Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental disorder characterized by impaired intellectual development/motor delay, autism spectrum disorder, facial dysmorphisms, hypotonia, congenital heart disease, visual difficulties, and gastrointestinal issues (summary by Breen et al., 2020). (615873) (Updated 20-May-2021)

KEGG : 36 Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.

UniProtKB/Swiss-Prot : 72 Helsmoortel-van der Aa syndrome: A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum.

Wikipedia : 73 Helsmoortel-Van der Aa syndrome is a condition caused by mutations in the activity-dependent... more...

Related Diseases for Helsmoortel-Van Der Aa Syndrome

Graphical network of the top 20 diseases related to Helsmoortel-Van Der Aa Syndrome:



Diseases related to Helsmoortel-Van Der Aa Syndrome

Symptoms & Phenotypes for Helsmoortel-Van Der Aa Syndrome

Human phenotypes related to Helsmoortel-Van Der Aa Syndrome:

58 31 (show top 50) (show all 107)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 urinary incontinence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000020
4 impaired social interactions 58 31 hallmark (90%) Very frequent (99-80%) HP:0000735
5 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
6 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
7 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
8 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
9 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
10 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
11 moderate global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011343
12 abnormal temper tantrums 58 31 frequent (33%) Frequent (79-30%) HP:0025160
13 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
14 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
15 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
16 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
17 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
18 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
19 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
20 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
21 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
22 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
23 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
24 thick lower lip vermilion 58 31 very rare (1%) Occasional (29-5%) HP:0000179
25 recurrent upper respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002788
26 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
27 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
28 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
29 thin upper lip vermilion 58 31 very rare (1%) Occasional (29-5%) HP:0000219
30 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
31 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
32 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
33 high anterior hairline 58 31 very rare (1%) Occasional (29-5%) HP:0009890
34 advanced eruption of teeth 58 31 very rare (1%) Occasional (29-5%) HP:0006288
35 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
36 truncal obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001956
37 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
38 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
39 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
40 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
41 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342
42 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
43 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
44 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
45 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
46 impaired mastication 58 31 occasional (7.5%) Occasional (29-5%) HP:0005216
47 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
48 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
49 aspiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002835
50 polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010442

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
visual impairment
strabismus
hypermetropia
downslanting palpebral fissures
more
Head And Neck Nose:
short nose
broad nasal bridge

Growth Height:
short stature

Growth Weight:
obesity

Neurologic Behavioral Psychiatric Manifestations:
obsessive-compulsive behavior
hyperactivity
autism spectrum disorder
stereotypic behavior
sleep problems

Skeletal Hands:
polydactyly
small hands
finger abnormalities, variable
fetal fingertip pads

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
hearing loss (in some patients)
otitis media, frequent

Skeletal Skull:
brachycephaly (in some patients)
plagiocephaly (in some patients)
trigonocephaly (in some patients)

Head And Neck Teeth:
early teeth

Skin Nails Hair Nails:
nail anomalies (in some patients)

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties
frequent vomiting

Head And Neck Face:
smooth philtrum

Head And Neck Head:
prominent forehead

Skeletal:
joint laxity

Immunology:
recurrent infections

Neurologic Central Nervous System:
language impairment
delayed psychomotor development
seizures (less common)
structural brain abnormalities
impaired intellectual development, mild to severe
more
Head And Neck Mouth:
thin upper lip

Cardiovascular Heart:
congenital heart defect (less common)

Neurologic Peripheral Nervous System:
insensitivity to pain
sensory processing disorder

Skeletal Feet:
2-3 toe syndactyly (in some patients)

Clinical features from OMIM®:

615873 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Helsmoortel-Van Der Aa Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 ADNP AURKAIP1 BAZ1B CASK CHD4 CHD8

Drugs & Therapeutics for Helsmoortel-Van Der Aa Syndrome

Drugs for Helsmoortel-Van Der Aa Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 1, Phase 2 6740-88-1 3821
2 Anesthetics, Dissociative Phase 1, Phase 2
3 Anesthetics, General Phase 1, Phase 2
4 Anesthetics Phase 1, Phase 2
5 Anesthetics, Intravenous Phase 1, Phase 2
6 Excitatory Amino Acid Antagonists Phase 1, Phase 2
7 Neurotransmitter Agents Phase 1, Phase 2
8 Analgesics Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2A Open-Label Study Evaluating the Safety and Efficacy of Low-Dose Ketamine in Children With ADNP Syndrome Recruiting NCT04388774 Phase 1, Phase 2 Ketamine

Search NIH Clinical Center for Helsmoortel-Van Der Aa Syndrome

Genetic Tests for Helsmoortel-Van Der Aa Syndrome

Genetic tests related to Helsmoortel-Van Der Aa Syndrome:

# Genetic test Affiliating Genes
1 Helsmoortel-Van Der Aa Syndrome 29 ADNP

Anatomical Context for Helsmoortel-Van Der Aa Syndrome

MalaCards organs/tissues related to Helsmoortel-Van Der Aa Syndrome:

40
Eye, Brain, Heart

Publications for Helsmoortel-Van Der Aa Syndrome

Articles related to Helsmoortel-Van Der Aa Syndrome:

(show all 21)
# Title Authors PMID Year
1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. 61 6 57
29724491 2019
2
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. 57 6
31029150 2019
3
Large-scale discovery of novel genetic causes of developmental disorders. 6 57
25533962 2015
4
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. 6 57
25057125 2014
5
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 57 6
24531329 2014
6
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. 61 57
32758449 2020
7
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
9
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 6
25169753 2014
10
ADNP promotes neural differentiation by modulating Wnt/β-catenin signaling. 61
32533114 2020
11
ADNP Controls Gene Expression Through Local Chromatin Architecture by Association With BRG1 and CHD4. 61
32714933 2020
12
The ADNP Syndrome and CP201 (NAP) Potential and Hope. 61
33329371 2020
13
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome. 61
29899371 2018
14
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome. 61
29780943 2018
15
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. 61
29475819 2018
16
Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes. 61
29795351 2018
17
Mutations in ADNP affect expression and subcellular localization of the protein. 61
29911927 2018
18
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray. 61
28807863 2017
19
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. 61
28407407 2017
20
Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease. 61
27870441 2017
21
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. 61
27031564 2016

Variations for Helsmoortel-Van Der Aa Syndrome

ClinVar genetic disease variations for Helsmoortel-Van Der Aa Syndrome:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADNP NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter) SNV Pathogenic 139633 rs587777524 GRCh37: 20:49510040-49510040
GRCh38: 20:50893503-50893503
2 ADNP NM_001282531.3(ADNP):c.2808del (p.Lys935_Tyr936insTer) Deletion Pathogenic 139634 rs587777525 GRCh37: 20:49508443-49508443
GRCh38: 20:50891906-50891906
3 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) SNV Pathogenic 279598 rs886041116 GRCh37: 20:49509063-49509063
GRCh38: 20:50892526-50892526
4 ADNP NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) Duplication Pathogenic 374212 rs1057518978 GRCh37: 20:49508932-49508933
GRCh38: 20:50892395-50892396
5 ADNP NM_001282531.3(ADNP):c.539_542del (p.Val180fs) Deletion Pathogenic 373314 rs1057518345 GRCh37: 20:49510709-49510712
GRCh38: 20:50894172-50894175
6 ADNP NM_001282531.3(ADNP):c.1932_1933AG[2] (p.Arg646fs) Microsatellite Pathogenic 619994 GRCh37: 20:49509314-49509315
GRCh38: 20:50892777-50892778
7 ADNP NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter) SNV Pathogenic 619999 GRCh37: 20:49510518-49510518
GRCh38: 20:50893981-50893981
8 ADNP NM_001282531.3(ADNP):c.177_178dup (p.Asp60fs) Duplication Pathogenic 620048 GRCh37: 20:49518576-49518577
GRCh38: 20:50902039-50902040
9 ADNP NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs) Deletion Pathogenic 452597 rs1555809984 GRCh37: 20:49509054-49509057
GRCh38: 20:50892517-50892520
10 ADNP NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer) Deletion Pathogenic 803614 rs1600930118 GRCh37: 20:49509092-49509094
GRCh38: 20:50892555-50892557
11 ADNP NM_001282531.3(ADNP):c.190dup (p.Thr64fs) Duplication Pathogenic 280557 rs886041741 GRCh37: 20:49518564-49518565
GRCh38: 20:50902027-50902028
12 ADNP NM_001282531.3(ADNP):c.-5-1G>C SNV Pathogenic 803615 rs1064796656 GRCh37: 20:49520539-49520539
GRCh38: 20:50904002-50904002
13 ADNP NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys) SNV Pathogenic 975321 GRCh37: 20:49510971-49510971
GRCh38: 20:50894434-50894434
14 ADNP NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter) SNV Pathogenic 984838 GRCh37: 20:49509038-49509038
GRCh38: 20:50892501-50892501
15 ADNP NM_001282531.3(ADNP):c.940_941del (p.Leu314fs) Deletion Pathogenic 984839 GRCh37: 20:49510310-49510311
GRCh38: 20:50893773-50893774
16 ADNP NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter) SNV Pathogenic 984841 GRCh37: 20:49510218-49510218
GRCh38: 20:50893681-50893681
17 ADNP NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter) SNV Pathogenic 984842 GRCh37: 20:49510767-49510767
GRCh38: 20:50894230-50894230
18 ADNP NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) SNV Pathogenic 280623 rs587777526 GRCh37: 20:49509094-49509094
GRCh38: 20:50892557-50892557
19 ADNP NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter) SNV Pathogenic 431117 rs1135401791 GRCh37: 20:49510734-49510734
GRCh38: 20:50894197-50894197
20 ADNP NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) Deletion Pathogenic 190279 rs1555810376 GRCh37: 20:49510028-49510029
GRCh38: 20:50893491-50893492
21 ADNP NM_001282531.3(ADNP):c.819del (p.Lys274fs) Deletion Pathogenic 280262 rs886041498 GRCh37: 20:49510432-49510432
GRCh38: 20:50893895-50893895
22 ADNP NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) Deletion Pathogenic 984844 GRCh37: 20:49508383-49508386
GRCh38: 20:50891846-50891849
23 ADNP NM_001282531.3(ADNP):c.642_651del (p.Asn214fs) Deletion Pathogenic 981627 GRCh37: 20:49510600-49510609
GRCh38: 20:50894063-50894072
24 ADNP NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) Deletion Pathogenic 139631 rs587777522 GRCh37: 20:49508757-49508760
GRCh38: 20:50892220-50892223
25 ADNP NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) Microsatellite Pathogenic 139632 rs587777523 GRCh37: 20:49508752-49508755
GRCh38: 20:50892215-50892218
26 ADNP NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) SNV Pathogenic 139635 rs587777526 GRCh37: 20:49509094-49509094
GRCh38: 20:50892557-50892557
27 ADNP NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) Duplication Pathogenic/Likely pathogenic 190278 rs1135401808 GRCh37: 20:49509094-49509095
GRCh38: 20:50892557-50892558
28 ADNP NM_001282531.3(ADNP):c.2287del (p.Ser763fs) Deletion Likely pathogenic 521175 rs1555809919 GRCh37: 20:49508964-49508964
GRCh38: 20:50892427-50892427
29 ADNP NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs) Deletion Likely pathogenic 984840 GRCh37: 20:49510204-49510205
GRCh38: 20:50893667-50893668
30 ADNP NM_001282531.3(ADNP):c.64dup (p.Ile22fs) Duplication Likely pathogenic 931423 GRCh37: 20:49520469-49520470
GRCh38: 20:50903932-50903933
31 ADNP NM_001282531.3(ADNP):c.709del (p.Val237fs) Deletion Likely pathogenic 976124 GRCh37: 20:49510542-49510542
GRCh38: 20:50894005-50894005
32 ADNP NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter) SNV Likely pathogenic 982697 GRCh37: 20:49508313-49508313
GRCh38: 20:50891776-50891776
33 ADNP NM_001282531.3(ADNP):c.1265dup (p.Gln423fs) Duplication Likely pathogenic 828170 rs1600932676 GRCh37: 20:49509985-49509986
GRCh38: 20:50893448-50893449
34 ADNP NM_001282531.3(ADNP):c.1717del (p.Asp573fs) Deletion Likely pathogenic 438275 rs1555810193 GRCh37: 20:49509534-49509534
GRCh38: 20:50892997-50892997
35 ADNP NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer) Deletion Likely pathogenic 800950 rs1600930164 GRCh37: 20:49509094-49509094
GRCh38: 20:50892557-50892557
36 ADNP NM_001282531.3(ADNP):c.201G>C (p.Gln67His) SNV Likely pathogenic 521542 rs1555812161 GRCh37: 20:49518554-49518554
GRCh38: 20:50902017-50902017
37 ADNP NM_001282531.3(ADNP):c.2129dup (p.Ser711fs) Duplication Likely pathogenic 984843 GRCh37: 20:49509121-49509122
GRCh38: 20:50892584-50892585
38 ADNP NM_001282531.3(ADNP):c.3056T>C (p.Met1019Thr) SNV Uncertain significance 1027971 GRCh37: 20:49508195-49508195
GRCh38: 20:50891658-50891658
39 ADNP NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys) SNV Uncertain significance 1027972 GRCh37: 20:49510770-49510770
GRCh38: 20:50894233-50894233
40 ADNP NM_001282531.3(ADNP):c.638C>T (p.Ser213Leu) SNV Uncertain significance 1027973 GRCh37: 20:49510613-49510613
GRCh38: 20:50894076-50894076
41 ADNP NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val) SNV Uncertain significance 1030496 GRCh37: 20:49510071-49510071
GRCh38: 20:50893534-50893534
42 ADNP NM_001282531.3(ADNP):c.872C>G (p.Ala291Gly) SNV Uncertain significance 1031904 GRCh37: 20:49510379-49510379
GRCh38: 20:50893842-50893842
43 ADNP NM_001282531.3(ADNP):c.1855G>T (p.Val619Phe) SNV Uncertain significance 386594 rs1057522545 GRCh37: 20:49509396-49509396
GRCh38: 20:50892859-50892859
44 ADNP NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) SNV Uncertain significance 338748 rs886056775 GRCh37: 20:49510149-49510149
GRCh38: 20:50893612-50893612
45 ADNP NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) SNV Uncertain significance 434095 rs147299402 GRCh37: 20:49508634-49508634
GRCh38: 20:50892097-50892097
46 ADNP NM_001282531.3(ADNP):c.775A>C (p.Asn259His) SNV Uncertain significance 589645 rs1568710433 GRCh37: 20:49510476-49510476
GRCh38: 20:50893939-50893939
47 ADNP NM_001282531.3(ADNP):c.108+6T>C SNV Uncertain significance 816876 rs1600956430 GRCh37: 20:49520420-49520420
GRCh38: 20:50903883-50903883
48 ADNP NM_001282531.3(ADNP):c.3304G>A (p.Ala1102Thr) SNV Uncertain significance 931701 GRCh37: 20:49507947-49507947
GRCh38: 20:50891410-50891410
49 ADNP NM_001282531.3(ADNP):c.3248dup (p.Val1084fs) Duplication Uncertain significance 546371 rs1555809374 GRCh37: 20:49508002-49508003
GRCh38: 20:50891465-50891466
50 ADNP NM_001282531.3(ADNP):c.2572G>A (p.Ala858Thr) SNV Uncertain significance 976094 GRCh37: 20:49508679-49508679
GRCh38: 20:50892142-50892142

Expression for Helsmoortel-Van Der Aa Syndrome

Search GEO for disease gene expression data for Helsmoortel-Van Der Aa Syndrome.

Pathways for Helsmoortel-Van Der Aa Syndrome

Pathways related to Helsmoortel-Van Der Aa Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 CHD8 CHD4 BAZ1B

GO Terms for Helsmoortel-Van Der Aa Syndrome

Cellular components related to Helsmoortel-Van Der Aa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.32 ZMYM5 RBM26 POGZ DPM1 CHD8 CHD4
2 RNA polymerase II transcription factor complex GO:0090575 8.96 CHD4 ADNP

Biological processes related to Helsmoortel-Van Der Aa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent chromatin remodeling GO:0043044 8.62 CHD8 CHD4

Molecular functions related to Helsmoortel-Van Der Aa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.17 ZMYM5 TPP1 RBM26 POGZ CHD4 BAZ1B
2 DNA helicase activity GO:0003678 9.16 CHD8 CHD4
3 peptide binding GO:0042277 8.96 TPP1 ADNP

Sources for Helsmoortel-Van Der Aa Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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