MCID: HLS003
MIFTS: 24

Helsmoortel-Van Der Aa Syndrome

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Fetal 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 53 71 28
Mental Retardation, Autosomal Dominant 28 53 71 69
Hvdas 53 71
Mrd28 53 71
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder 55
Mental Retardation, Autosomal Dominant 28; Mrd28 53

Characteristics:

Orphanet epidemiological data:

55
adnp-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable extraneurologic features


HPO:

31
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 : 71 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 mental retardation, autosomal dominant 28, is related to adnp syndrome and adnp-related intellectual disability and autism spectrum disorder, and has symptoms including seizures, joint laxity and obesity. An important gene associated with Helsmoortel-Van Der Aa Syndrome is ADNP (Activity Dependent Neuroprotector Homeobox). Affiliated tissues include heart.

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:

# Related Disease Score Top Affiliating Genes
1 adnp syndrome 12.4
2 adnp-related intellectual disability and autism spectrum disorder 11.5

Symptoms & Phenotypes for Helsmoortel-Van Der Aa Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity

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

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)

Growth Weight:
obesity

Head And Neck Nose:
short nose
broad nasal bridge

Growth Height:
short stature

Abdomen Gastroin testinal:
feeding difficulties

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:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 joint laxity 31 HP:0001388
3 obesity 31 HP:0001513
4 ptosis 31 HP:0000508
5 intellectual disability 31 HP:0001249
6 global developmental delay 31 HP:0001263
7 wide nasal bridge 31 HP:0000431
8 short nose 31 HP:0003196
9 smooth philtrum 31 HP:0000319
10 visual impairment 31 HP:0000505
11 short stature 31 HP:0004322
12 stereotypy 31 HP:0000733
13 prominent forehead 31 HP:0011220
14 feeding difficulties 31 HP:0011968
15 strabismus 31 HP:0000486
16 small hand 31 HP:0200055
17 downslanted palpebral fissures 31 HP:0000494
18 recurrent infections 31 HP:0002719
19 thin upper lip vermilion 31 HP:0000219
20 obsessive-compulsive behavior 31 HP:0000722
21 autistic behavior 31 HP:0000729
22 hyperactivity 31 HP:0000752
23 language impairment 31 HP:0002463
24 generalized hypotonia 31 HP:0001290
25 abnormal heart morphology 31 occasional (7.5%) HP:0001627
26 hypermetropia 31 HP:0000540
27 eyelid coloboma 31 HP:0000625

Drugs & Therapeutics for Helsmoortel-Van Der Aa Syndrome

Search Clinical Trials , 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 28 ADNP

Anatomical Context for Helsmoortel-Van Der Aa Syndrome

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

38
Heart

Publications for Helsmoortel-Van Der Aa Syndrome

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

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

6 (show all 11)
# 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
11 ADNP NM_001282531.2(ADNP): c.1717delG (p.Asp573Metfs) deletion Likely pathogenic GRCh37 Chromosome 20, 49509534: 49509534

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

Sources for Helsmoortel-Van Der Aa 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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
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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