HVDAS
MCID: HLS003
MIFTS: 41

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 58 12 60 76 30 6 15
Hvdas 58 12 60 76
Mental Retardation, Autosomal Dominant 28 58 76 74
Mrd28 58 12 76
Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder 60
Mental Retardation, Autosomal Dominant 28; Mrd28 58
Autosomal Dominant Mental Retardation 28 12
Syndrome, Helsmoortel-Van Der Aa ) 41
Adnp Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
adnp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable extraneurologic features


HPO:

33
helsmoortel-van der aa syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Helsmoortel-Van Der Aa Syndrome

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Helsmoortel-Van Der Aa Syndrome, also known as hvdas, is related to adnp 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 are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Hematopoietic cell lineage. Affiliated tissues include heart, and related phenotypes are seizures and abnormal heart morphology

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.

Wikipedia : 77 Helsmoortel-Van der Aa syndrome is a condition caused by mutations in the activity-dependent... more...

Description from OMIM: 615873

Related Diseases for Helsmoortel-Van Der Aa Syndrome

Diseases related to Helsmoortel-Van Der Aa Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 adnp syndrome 12.5
2 adnp-related intellectual disability and autism spectrum disorder 11.7
3 autism 10.1
4 spermatocytoma 10.1 KIT SALL4
5 extracutaneous mastocytoma 10.1 CD33 KIT
6 embryoma 10.1 KIT SALL4
7 mixed germ cell-sex cord neoplasm 10.1 KIT SALL4
8 extragonadal seminoma 10.0 KIT SALL4
9 cutaneous solitary mastocytoma 10.0 ABCB1 KIT
10 cutaneous ganglioneuroma 10.0 KIT NCAM1
11 endometrial small cell carcinoma 10.0 KIT NCAM1
12 small cell carcinoma 10.0 KIT NCAM1
13 angiomyoma 10.0 KIT NCAM1
14 perineurioma 10.0 KIT NCAM1
15 rete testis neoplasm 10.0 KIT NCAM1
16 neurofibromatosis, type i 9.9 KIT NCAM1
17 malignant skin fibrous histiocytoma 9.9 KIT NCAM1
18 myeloid sarcoma 9.9 KIT NCAM1
19 hepatosplenic t-cell lymphoma 9.9 ABCB1 CD7
20 ovarian brenner tumor 9.9 KIT SALL4
21 large cell neuroendocrine carcinoma 9.9 KIT NCAM1
22 uterine sarcoma 9.9 ABCB1 KIT
23 malignant dermis tumor 9.9 KIT NCAM1
24 malignant mesenchymoma 9.9 KIT NCAM1
25 chronic nk-cell lymphocytosis 9.9 CD7 NCAM1
26 mediastinal cancer 9.8 CD33 KIT NCAM1
27 leukemia, chronic myeloid 9.7 ABCB1 CD33 KIT
28 small cell cancer of the lung 9.7 ABCB1 KIT NCAM1
29 merkel cell carcinoma 9.7 KIT NCAM1
30 myeloma, multiple 9.7 ABCB1 KIT NCAM1
31 aleukemic leukemia cutis 9.7 CD33 CD7 NCAM1
32 acute promyelocytic leukemia 9.6 ABCB1 CD33 NCAM1
33 leukocyte disease 9.6 KIT NCAM1
34 acute leukemia 9.3 ABCB1 CD33 CD7 KIT
35 hematologic cancer 9.0 ABCB1 CD33 CD7 KIT NCAM1
36 leukemia, acute myeloid 9.0 ABCB1 CD33 CD7 KIT NCAM1

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:

33 (show all 39)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 abnormal heart morphology 33 occasional (7.5%) HP:0001627
3 coarse facial features 33 very rare (1%) HP:0000280
4 widely spaced teeth 33 very rare (1%) HP:0000687
5 wide nasal bridge 33 very rare (1%) HP:0000431
6 short nose 33 very rare (1%) HP:0003196
7 prominent forehead 33 very rare (1%) HP:0011220
8 long philtrum 33 very rare (1%) HP:0000343
9 thick lower lip vermilion 33 very rare (1%) HP:0000179
10 everted lower lip vermilion 33 very rare (1%) HP:0000232
11 wide mouth 33 very rare (1%) HP:0000154
12 low-set, posteriorly rotated ears 33 very rare (1%) HP:0000368
13 downslanted palpebral fissures 33 very rare (1%) HP:0000494
14 broad nasal tip 33 very rare (1%) HP:0000455
15 thin upper lip vermilion 33 very rare (1%) HP:0000219
16 advanced eruption of teeth 33 very rare (1%) HP:0006288
17 high anterior hairline 33 very rare (1%) HP:0009890
18 growth hormone deficiency 33 very rare (1%) HP:0000824
19 narrow palpebral fissure 33 very rare (1%) HP:0045025
20 eyelid coloboma 33 very rare (1%) HP:0000625
21 obesity 33 HP:0001513
22 ptosis 33 HP:0000508
23 intellectual disability 33 HP:0001249
24 global developmental delay 33 HP:0001263
25 smooth philtrum 33 HP:0000319
26 visual impairment 33 HP:0000505
27 short stature 33 HP:0004322
28 stereotypy 33 HP:0000733
29 feeding difficulties 33 HP:0011968
30 strabismus 33 HP:0000486
31 joint laxity 33 HP:0001388
32 small hand 33 HP:0200055
33 recurrent infections 33 HP:0002719
34 obsessive-compulsive behavior 33 HP:0000722
35 generalized hypotonia 33 HP:0001290
36 autistic behavior 33 HP:0000729
37 hyperactivity 33 HP:0000752
38 language impairment 33 HP:0002463
39 hypermetropia 33 HP:0000540

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Head And Neck Nose:
short nose
broad nasal bridge

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties

Immunology:
recurrent infections

Neurologic Central Nervous System:
language impairment
delayed psychomotor development
seizures (less common)
intellectual disability, mild to severe
developmental delay apparent in infancy

Head And Neck Mouth:
thin upper lip

Cardiovascular Heart:
congenital heart defect (less common)

Head And Neck Eyes:
ptosis
visual impairment
strabismus
hypermetropia
downslanting palpebral fissures
more
Head And Neck Face:
smooth philtrum

Head And Neck Head:
prominent forehead

Skeletal:
joint laxity

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

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
small hands

Clinical features from OMIM:

615873

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 ABCB1 CHD4 DPM1 KCNB1 KIT NCAM1

Drugs & Therapeutics for Helsmoortel-Van Der Aa Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures. Recruiting NCT03718936

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 30 ADNP

Anatomical Context for Helsmoortel-Van Der Aa Syndrome

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

42
Heart

Publications for Helsmoortel-Van Der Aa Syndrome

Articles related to Helsmoortel-Van Der Aa 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 Helsmoortel-Van Der Aa Syndrome

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

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADNP NM_015339.4(ADNP): c.2156dup (p.Tyr719Terfs) duplication Pathogenic rs1135401808 GRCh37 Chromosome 20, 49509095: 49509095
2 ADNP NM_015339.4(ADNP): c.2156dup (p.Tyr719Terfs) duplication Pathogenic rs1135401808 GRCh38 Chromosome 20, 50892558: 50892558
3 ADNP NM_001282531.2(ADNP): c.1221_1222delAA (p.Lys408Valfs) deletion Pathogenic rs1555810376 GRCh37 Chromosome 20, 49510029: 49510030
4 ADNP NM_001282531.2(ADNP): c.1221_1222delAA (p.Lys408Valfs) deletion Pathogenic rs1555810376 GRCh38 Chromosome 20, 50893492: 50893493
5 ADNP NM_181442.3(ADNP): c.2491_2494delTTAA (p.Leu831Ilefs) deletion Pathogenic rs587777522 GRCh37 Chromosome 20, 49508757: 49508760
6 ADNP NM_181442.3(ADNP): c.2491_2494delTTAA (p.Leu831Ilefs) deletion Pathogenic rs587777522 GRCh38 Chromosome 20, 50892220: 50892223
7 ADNP NM_015339.2(ADNP): c.2496_2499delTAAA (p.Asn832Lysfs) deletion Pathogenic rs587777523 GRCh37 Chromosome 20, 49508752: 49508755
8 ADNP NM_015339.2(ADNP): c.2496_2499delTAAA (p.Asn832Lysfs) deletion Pathogenic rs587777523 GRCh38 Chromosome 20, 50892215: 50892218
9 ADNP NM_001282531.2(ADNP): c.1211C> A (p.Ser404Ter) single nucleotide variant Pathogenic rs587777524 GRCh37 Chromosome 20, 49510040: 49510040
10 ADNP NM_001282531.2(ADNP): c.1211C> A (p.Ser404Ter) single nucleotide variant Pathogenic rs587777524 GRCh38 Chromosome 20, 50893503: 50893503
11 ADNP NM_001282531.2(ADNP): c.2808delC (p.Tyr936Terfs) deletion Pathogenic rs587777525 GRCh37 Chromosome 20, 49508443: 49508443
12 ADNP NM_001282531.2(ADNP): c.2808delC (p.Tyr936Terfs) deletion Pathogenic rs587777525 GRCh38 Chromosome 20, 50891906: 50891906
13 ADNP NM_015339.3(ADNP): c.2157C> G (p.Tyr719Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777526 GRCh37 Chromosome 20, 49509094: 49509094
14 ADNP NM_015339.3(ADNP): c.2157C> G (p.Tyr719Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777526 GRCh38 Chromosome 20, 50892557: 50892557
15 ADNP NM_181442.3(ADNP): c.3279_3280insCC (p.Gly1094Profs) insertion Benign rs869320662 GRCh37 Chromosome 20, 49507971: 49507972
16 ADNP NM_181442.3(ADNP): c.3279_3280insCC (p.Gly1094Profs) insertion Benign rs869320662 GRCh38 Chromosome 20, 50891434: 50891435
17 ADNP NM_015339.4(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic rs886041116 GRCh37 Chromosome 20, 49509063: 49509063
18 ADNP NM_015339.4(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic rs886041116 GRCh38 Chromosome 20, 50892526: 50892526
19 ADNP NM_015339.4(ADNP): c.1102C> T (p.Gln368Ter) single nucleotide variant Uncertain significance rs886056775 GRCh37 Chromosome 20, 49510149: 49510149
20 ADNP NM_015339.4(ADNP): c.1102C> T (p.Gln368Ter) single nucleotide variant Uncertain significance rs886056775 GRCh38 Chromosome 20, 50893612: 50893612
21 ADNP NM_015339.4(ADNP): c.539_542delTTAG (p.Val180Glyfs) deletion Pathogenic rs1057518345 GRCh37 Chromosome 20, 49510709: 49510712
22 ADNP NM_015339.4(ADNP): c.539_542delTTAG (p.Val180Glyfs) deletion Pathogenic rs1057518345 GRCh38 Chromosome 20, 50894172: 50894175
23 ADNP NM_001282531.2(ADNP): c.2318_2319insA (p.Tyr774Valfs) insertion Pathogenic rs1057518978 GRCh37 Chromosome 20, 49508933: 49508933
24 ADNP NM_001282531.2(ADNP): c.2318_2319insA (p.Tyr774Valfs) insertion Pathogenic rs1057518978 GRCh38 Chromosome 20, 50892396: 50892396
25 ADNP NM_015339.4(ADNP): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs1135401791 GRCh38 Chromosome 20, 50894197: 50894197
26 ADNP NM_015339.4(ADNP): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs1135401791 GRCh37 Chromosome 20, 49510734: 49510734
27 ADNP NM_001282531.2(ADNP): c.1717delG (p.Asp573Metfs) deletion Likely pathogenic rs1555810193 GRCh37 Chromosome 20, 49509534: 49509534
28 ADNP NM_001282531.2(ADNP): c.1717delG (p.Asp573Metfs) deletion Likely pathogenic rs1555810193 GRCh38 Chromosome 20, 50892997: 50892997
29 ADNP NM_001282531.1: c.1936_1937del undetermined variant Pathogenic GRCh38 Chromosome 20, 50892778: 50892779
30 ADNP NM_001282531.3(ADNP): c.733G> T (p.Glu245Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 50893981: 50893981
31 ADNP NM_001282531.3(ADNP): c.733G> T (p.Glu245Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 49510518: 49510518
32 ADNP NM_001282531.3(ADNP): c.176_177dup (p.Asp60Glyfs) duplication Pathogenic GRCh38 Chromosome 20, 50902041: 50902042
33 ADNP NM_001282531.3(ADNP): c.176_177dup (p.Asp60Glyfs) duplication Pathogenic GRCh37 Chromosome 20, 49518577: 49518578

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

GO Terms for Helsmoortel-Van Der Aa Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 stem cell population maintenance GO:0019827 8.96 KIT SALL4
2 somatic stem cell population maintenance GO:0035019 8.62 KIT SALL4

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

# Name GO ID Score Top Affiliating Genes
1 nucleosomal DNA binding GO:0031492 8.62 CHD4 HIST2H3PS2

Sources for Helsmoortel-Van Der Aa Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....