HVDAS
MCID: HLS003
MIFTS: 43

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 59 75 29 6 15
Hvdas 57 12 59 75
Mental Retardation, Autosomal Dominant 28 57 75 73
Mrd28 57 12 75
Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder 59
Mental Retardation, Autosomal Dominant 28; Mrd28 57
Autosomal Dominant Mental Retardation 28 12
Syndrome, Helsmoortel-Van Der Aa ) 40
Adnp Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
adnp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable extraneurologic features


HPO:

32
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 : 75 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 Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include heart, lung and skin, and related phenotypes are obesity and ptosis

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 : 76 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 11.6
3 hepatosplenic t-cell lymphoma 10.0 ABCB1 CD7
4 chronic nk-cell lymphocytosis 10.0 CD7 NCAM1
5 spermatocytoma 10.0 KIT SALL4
6 embryoma 10.0 KIT SALL4
7 extracutaneous mastocytoma 10.0 CD33 KIT
8 mixed germ cell-sex cord neoplasm 10.0 KIT SALL4
9 autism 9.9
10 extragonadal seminoma 9.9 KIT SALL4
11 cutaneous solitary mastocytoma 9.9 ABCB1 KIT
12 cutaneous ganglioneuroma 9.9 KIT NCAM1
13 endometrial small cell carcinoma 9.9 KIT NCAM1
14 small cell carcinoma 9.9 KIT NCAM1
15 angiomyoma 9.9 KIT NCAM1
16 perineurioma 9.9 KIT NCAM1
17 rete testis neoplasm 9.9 KIT NCAM1
18 ovarian brenner tumor 9.9 KIT SALL4
19 neurofibromatosis, type i 9.8 KIT NCAM1
20 malignant skin fibrous histiocytoma 9.8 KIT NCAM1
21 aleukemic leukemia cutis 9.8 CD33 CD7 NCAM1
22 myeloid sarcoma 9.8 KIT NCAM1
23 uterine sarcoma 9.8 ABCB1 KIT
24 large cell neuroendocrine carcinoma 9.8 KIT NCAM1
25 malignant dermis tumor 9.8 KIT NCAM1
26 malignant mesenchymoma 9.8 KIT NCAM1
27 mediastinal cancer 9.7 CD33 KIT NCAM1
28 leukemia, chronic myeloid 9.7 ABCB1 CD33 KIT
29 merkel cell carcinoma 9.7 KIT NCAM1
30 small cell cancer of the lung 9.7 ABCB1 KIT NCAM1
31 acute promyelocytic leukemia 9.7 ABCB1 CD33 NCAM1
32 myeloma, multiple 9.7 ABCB1 KIT NCAM1
33 leukocyte disease 9.6 KIT NCAM1
34 acute leukemia 9.6 ABCB1 CD33 CD7 KIT
35 hematologic cancer 9.3 ABCB1 CD33 CD7 KIT NCAM1
36 leukemia, acute myeloid 9.3 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Helsmoortel-Van Der Aa Syndrome:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 ptosis 32 HP:0000508
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 short nose 32 HP:0003196
8 smooth philtrum 32 HP:0000319
9 visual impairment 32 HP:0000505
10 short stature 32 HP:0004322
11 stereotypy 32 HP:0000733
12 prominent forehead 32 HP:0011220
13 feeding difficulties 32 HP:0011968
14 strabismus 32 HP:0000486
15 joint laxity 32 HP:0001388
16 small hand 32 HP:0200055
17 downslanted palpebral fissures 32 HP:0000494
18 recurrent infections 32 HP:0002719
19 thin upper lip vermilion 32 HP:0000219
20 obsessive-compulsive behavior 32 HP:0000722
21 generalized hypotonia 32 HP:0001290
22 autistic behavior 32 HP:0000729
23 hyperactivity 32 HP:0000752
24 language impairment 32 HP:0002463
25 abnormal heart morphology 32 occasional (7.5%) HP:0001627
26 growth hormone deficiency 32 very rare (1%) HP:0000824
27 hypermetropia 32 HP:0000540
28 eyelid coloboma 32 HP:0000625

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

46
# 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 29 ADNP

Anatomical Context for Helsmoortel-Van Der Aa Syndrome

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

41
Heart, Lung, Skin, Testis, T Cells, Myeloid, Nk Cells

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 28)
# 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_181442.3(ADNP): c.2491_2494delTTAA (p.Leu831Ilefs) deletion Pathogenic rs587777522 GRCh38 Chromosome 20, 50892220: 50892223
3 ADNP NM_015339.2(ADNP): c.2496_2499delTAAA (p.Asn832Lysfs) deletion Pathogenic rs587777523 GRCh37 Chromosome 20, 49508752: 49508755
4 ADNP NM_015339.2(ADNP): c.2496_2499delTAAA (p.Asn832Lysfs) deletion Pathogenic rs587777523 GRCh38 Chromosome 20, 50892215: 50892218
5 ADNP NM_001282531.2(ADNP): c.1211C> A (p.Ser404Ter) single nucleotide variant Pathogenic rs587777524 GRCh37 Chromosome 20, 49510040: 49510040
6 ADNP NM_001282531.2(ADNP): c.1211C> A (p.Ser404Ter) single nucleotide variant Pathogenic rs587777524 GRCh38 Chromosome 20, 50893503: 50893503
7 ADNP NM_001282531.2(ADNP): c.2808delC (p.Tyr936Terfs) deletion Pathogenic rs587777525 GRCh37 Chromosome 20, 49508443: 49508443
8 ADNP NM_001282531.2(ADNP): c.2808delC (p.Tyr936Terfs) deletion Pathogenic rs587777525 GRCh38 Chromosome 20, 50891906: 50891906
9 ADNP NM_015339.3(ADNP): c.2157C> G (p.Tyr719Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777526 GRCh37 Chromosome 20, 49509094: 49509094
10 ADNP NM_015339.3(ADNP): c.2157C> G (p.Tyr719Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777526 GRCh38 Chromosome 20, 50892557: 50892557
11 ADNP NM_001282531.2(ADNP): c.2156dup (p.Tyr719Terfs) duplication Pathogenic rs1135401808 GRCh37 Chromosome 20, 49509095: 49509095
12 ADNP NM_001282531.2(ADNP): c.2156dup (p.Tyr719Terfs) duplication Pathogenic rs1135401808 GRCh38 Chromosome 20, 50892558: 50892558
13 ADNP NM_001282531.2(ADNP): c.1221_1222delAA (p.Lys408Valfs) deletion Pathogenic GRCh37 Chromosome 20, 49510029: 49510030
14 ADNP NM_001282531.2(ADNP): c.1221_1222delAA (p.Lys408Valfs) deletion Pathogenic GRCh38 Chromosome 20, 50893492: 50893493
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_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic rs886041116 GRCh37 Chromosome 20, 49509063: 49509063
18 ADNP NM_001282531.2(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 GRCh38 Chromosome 20, 50893612: 50893612
20 ADNP NM_015339.4(ADNP): c.1102C> T (p.Gln368Ter) single nucleotide variant Uncertain significance rs886056775 GRCh37 Chromosome 20, 49510149: 49510149
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 GRCh37 Chromosome 20, 49509534: 49509534
28 ADNP NM_001282531.2(ADNP): c.1717delG (p.Asp573Metfs) deletion Likely pathogenic GRCh38 Chromosome 20, 50892997: 50892997

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

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 CD33 KIT NCAM1

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

Sources for Helsmoortel-Van Der Aa 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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