MCID: HLS003
MIFTS: 27

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 57 12 75 29 6
Mental Retardation, Autosomal Dominant 28 57 75 73
Hvdas 57 12 75
Mrd28 57 12 75
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder 59
Mental Retardation, Autosomal Dominant 28; Mrd28 57
Mental Retardation, Autosomal Dominant, Type 28 40
Autosomal Dominant Mental Retardation 28 12

Characteristics:

Orphanet epidemiological data:

59
adnp-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
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 mental retardation, autosomal dominant 28, 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). Affiliated tissues include heart, and related phenotypes are thin upper lip vermilion and smooth philtrum

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.

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
3 alacrima, achalasia, and mental retardation syndrome 10.3

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

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 29 ADNP

Anatomical Context for Helsmoortel-Van Der Aa Syndrome

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

41
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 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 GRCh38 Chromosome 20, 50892526: 50892526
18 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic rs886041116 GRCh37 Chromosome 20, 49509063: 49509063
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

Sources for Helsmoortel-Van Der Aa Syndrome

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9 Cosmic
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11 DGIdb
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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