MCID: HLS003
MIFTS: 25

Helsmoortel-Van Der Aa Syndrome

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

Aliases & Classifications for Helsmoortel-Van Der Aa Syndrome

MalaCards integrated aliases for Helsmoortel-Van Der Aa Syndrome:

Name: Helsmoortel-Van Der Aa Syndrome 54 24 71 29
Mental Retardation, Autosomal Dominant 28 24 71 69
Mrd28 24 71
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder 56
Hvdas 71

Characteristics:

Orphanet epidemiological data:

56
adnp-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

54
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 : 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 short stature, visual impairment and recurrent infections. 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:

id Related Disease Score Top Affiliating Genes
1 adnp syndrome 12.1
2 adnp-related intellectual disability and autism spectrum disorder 11.4

Symptoms & Phenotypes for Helsmoortel-Van Der Aa Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
visual impairment
strabismus
downslanting palpebral fissures
ptosis
hypermetropia
more
Immunology:
recurrent infections

Skeletal:
joint laxity

Skeletal- Hands:
small hands

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

Head And Neck- Face:
smooth philtrum

Cardiovascular- Heart:
congenital heart defect (less common)

Muscle Soft Tissue:
hypotonia

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

Head And Neck- Head:
prominent forehead

Head And Neck- Nose:
short nose
broad nasal bridge

Head And Neck- Mouth:
thin upper lip

Abdomen- Gastroin testinal:
feeding difficulties

Growth- Weight:
obesity


Clinical features from OMIM:

615873

Human phenotypes related to Helsmoortel-Van Der Aa Syndrome:

32 (show all 27)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 visual impairment 32 HP:0000505
3 recurrent infections 32 HP:0002719
4 strabismus 32 HP:0000486
5 seizures 32 occasional (7.5%) HP:0001250
6 ptosis 32 HP:0000508
7 prominent forehead 32 HP:0011220
8 joint laxity 32 HP:0001388
9 short nose 32 HP:0003196
10 global developmental delay 32 HP:0001263
11 intellectual disability 32 HP:0001249
12 hyperactivity 32 HP:0000752
13 wide nasal bridge 32 HP:0000431
14 feeding difficulties 32 HP:0011968
15 hypermetropia 32 HP:0000540
16 downslanted palpebral fissures 32 HP:0000494
17 smooth philtrum 32 HP:0000319
18 obesity 32 HP:0001513
19 muscular hypotonia 32 HP:0001252
20 obsessive-compulsive behavior 32 HP:0000722
21 language impairment 32 HP:0002463
22 autistic behavior 32 HP:0000729
23 thin upper lip vermilion 32 HP:0000219
24 small hand 32 HP:0200055
25 cleft eyelid 32 HP:0000625
26 stereotypy 32 HP:0000733
27 abnormal heart morphology 32 occasional (7.5%) HP:0001627

UMLS symptoms related to Helsmoortel-Van Der Aa Syndrome:


joint laxity

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:

id Genetic test Affiliating Genes
1 Helsmoortel-Van Der Aa Syndrome 29
2 Mental Retardation, Autosomal Dominant 28 24 ADNP

Anatomical Context for Helsmoortel-Van Der Aa Syndrome

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

39
Heart

Publications for Helsmoortel-Van Der Aa Syndrome

Articles related to Helsmoortel-Van Der Aa Syndrome:

id 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 13)
id 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 ADNP, 4-BP DEL, TTTA deletion Pathogenic
7 ADNP ADNP, 1-BP INS, T insertion Pathogenic
8 ADNP ADNP, 2-BP DEL, TT deletion Pathogenic
9 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041116 GRCh37 Chromosome 20, 49509063: 49509063
10 ADNP NM_001282531.2(ADNP): c.2318_2319insA (p.Tyr774Valfs) insertion Pathogenic rs1057518978 GRCh37 Chromosome 20, 49508933: 49508933
11 ADNP NM_001282531.2(ADNP): c.2156dup (p.Tyr719Terfs) duplication Pathogenic rs1135401808 GRCh37 Chromosome 20, 49509095: 49509095
12 ADNP NM_015339.4(ADNP): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs1135401791 GRCh38 Chromosome 20, 50894197: 50894197
13 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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