Helsmoortel-van der aa syndrome

Preferred Label : Helsmoortel-van der aa syndrome;

Symbol : HVDAS;

CISMeF acronym : HVDAS; MRD28;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 28; MRD28;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the activity-dependent neuroprotector homeobox gene (ADNP, 611386.0001);

Prefixed ID : #615873;

Details

Origin ID

615873;

UMLS CUI

C4014538;

Currated CISMeF NLP mapping
- ADNP syndrome [ORDO Disease]
- ADNP syndrome [MedDRA Preferred Term]
- Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) [SNOMED CT concept]
- Helsmoortel-Van Der Aa Syndrome [DO Concept]
- Helsmoortel-van der Aa syndrome [MedDRA LLT]
- Mental Retardation, Autosomal Dominant 28 [NCIt concept]
DO Cross reference
- Helsmoortel-Van Der Aa Syndrome [DO Concept]
Genes related to phenotype
- Activity-dependent neuroprotector homeobox [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Advanced eruption of teeth [HPO term]
- Anteverted nares [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal tip [HPO term]
- Coarse facial features [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Downslanted palpebral fissures [HPO term]
- Everted lower lip vermilion [HPO term]
- Eyelid coloboma [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Language impairment [HPO term]
- Long philtrum [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- ADNP syndrome [ORDO Disease]
See also inter- (CISMeF)
- ADNP wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADNP syndrome [MedDRA Preferred Term]
- Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) [SNOMED CT concept]
- Helsmoortel-Van der Aa syndrome [MeSH Supplementary Concept]
- Helsmoortel-van der Aa syndrome [MedDRA LLT]
- Mental Retardation, Autosomal Dominant 28 [NCIt concept]

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