ORPHA:404448
Helsmoortel-Van der Aa syndrome
Synonyms: ADNP syndrome · ADNP-related Helsmoortel-Van der Aa syndrome · ADNP-related syndromic intellectual disability-autism spectrum disorder · HVDAS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- active
A rare neurodevelopmental disorder characterized by intellectual disability (ID), autistic features, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, and visual problems.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Helsmoortel-Van der Aa syndrome | ADNP syndrome · ADNP-related Helsmoortel-Van der Aa syndrome · ADNP-related syndromic intellectual disability-autism spectrum disorder · HVDAS |
| fr | Syndrome de Helsmoortel-Van der Aa | Déficience intellectuelle syndromique-trouble du spectre de l'autisme liés à ADNP · HVDAS · Syndrome ADNP · Syndrome de Helsmoortel-Van der Aa associé à ADNP |
| de | Helsmoortel-Van der Aa-Syndrom | ADNP-Syndrom · ADNP-assoziierte syndromale Intelligenzminderung mit Autismus-Spektrum-Störung · HVDAS |
| es | Síndrome de Helsmoortel-Van der Aa | HVDAS · Síndrome ADNP · Síndrome de Helsmoortel-Van der Aa asociado a ADNP · Trastorno de discapacidad intelectual sindrómica-espectro autista asociado a ADNP |
| it | Sindrome di Helsmoortel-Van der Aa | Sindrome ADNP · Sindrome di Helsmoortel-Van der Aa correlata all'ADNP · Disabilità intellettiva sindromica-disturbo dello spettro autistico correlata ad ADNP · HVDAS |
| nl | Syndroom van Helsmoortel-Van Der Aa | ADNP-gerelateerd syndroom van Helsmoortel-Van Der Aa · ADNP-gerelateerde syndromale intellectuele achterstand - autismespectrumstoornis · ADNP-syndroom · HVDAS |
| pt | Síndrome ADNP | HVDAS · Síndrome Helsmoortel-Van Der Aa · Doença de perturbação do desenvolvimento intelectual sindrómica-espectro clínico de autismo ADNP-relacionado |
| pl | Zespół Helsmoortel-van der Aa | = en |
| cs | ADNP-vázané mnohočetné vrozené anomálie, mentální retardace a poruchy autistického spektra | = en |
| uk | ADNP-синдром | Повязаний з ADNP синдром інтелектуальної недостатності - розлади спектра аутизму · Синдром Хелсмортела-Ван Дер Аа · HVDAS |
| zh | ADNP综合征 | ADNP相关综合征性智力障碍-自闭症 |
| tr | ADNP sendromu | HVDAS · Helsmoortel-Van Der Aa Sendromu · ADNP-ilişkili sendromik zihinsel yetersizlik-otizm spektrum bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615873 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014379 | E | validated | |
| UMLS | C4014538 | E | validated | |
| GARD | 12931 | E | validated | |
| MedDRA | 10083856 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADNP | Disease-causing germline mutation(s) in | Assessed | HGNC:15766 | ENSG00000101126 | 611386 | 20q13.13 | activity dependent neuroprotector homeobox | 24531329[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
80 annotations · validated 2019-07-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000729 | Autistic behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000020 | Urinary incontinence | |
| Frequent (79-30%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0012450 | Chronic constipation | |
| HP:0000722 | Compulsive behaviors | |
| HP:0008947 | Floppy infant | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001382 | Joint hypermobility | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0002591 | Polyphagia | |
| HP:0011344 | Severe global developmental delay | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0001780 | Abnormality of toe | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0000718 | Aggressive behavior | |
| HP:0002835 | Aspiration | |
| HP:0000483 | Astigmatism | |
| HP:0001488 | Bilateral ptosis | |
| HP:0002059 | Cerebral atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0002376 | Developmental regression | |
| HP:0007042 | Focal white matter lesions | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0009890 | High anterior hairline | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0005216 | Impaired mastication | |
| HP:0000369 | Low-set ears | |
| HP:0008551 | Microtia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001357 | Plagiocephaly | |
| HP:0010442 | Polydactyly | |
| HP:0000411 | Protruding ear | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0001852 | Sandal gap | |
| HP:0004322 | Short stature | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0200006 | Slanting of the palpebral fissure | |
| HP:0002360 | Sleep abnormality | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000243 | Trigonocephaly | |
| HP:0001956 | Truncal obesity | |
| HP:0002119 | Ventriculomegaly | |
| HP:0002013 | Vomiting | |
| HP:0006610 | Wide intermamillary distance | |
| Very rare (<4-1%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0000646 | Amblyopia | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0010055 | Broad hallux | |
| HP:0011304 | Broad thumb | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000577 | Exotropia | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001007 | Hirsutism | |
| HP:0001276 | Hypertonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000612 | Iris coloboma | |
| HP:0001118 | Juvenile cataract | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000252 | Microcephaly | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29724491[PMID]_30107084[PMID]_25533962[PMID]_25057125[PMID]_24531329[PMID]_27054228[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404448
- This record as JSON: /data/d/404448.json