Arboleda-tham syndrome

Preferred Label : Arboleda-tham syndrome;

Symbol : ARTHS;

CISMeF acronym : MRD32; ARTHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 32; MRD32; Kat6a syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001);

Prefixed ID : #616268;

Details

Origin ID

616268;

UMLS CUI

C4225396;

Currated CISMeF NLP mapping
- Arboleda-Tham syndrome [DO Concept]
- Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) [SNOMED CT concept]
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [ORDO Disease]
DO Cross reference
- Arboleda-Tham syndrome [DO Concept]
Genes related to phenotype
- Lysine acetyltransferase 6a [OMIM gene]
HPO term(s)
- 3-4 finger cutaneous syndactyly [HPO term]
- Abnormality of the dentition [HPO term]
- Absent speech [HPO term]
- Amblyopia [HPO term]
- Anteverted ears [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal tip [HPO term]
- Cerebral visual impairment [HPO term]
- Conjunctivitis [HPO term]
- Craniosynostosis [HPO term]
- Deeply set eye [HPO term]
- Deviation of the hallux [HPO term]
- Downturned corners of mouth [HPO term]
- Enlarged proximal interphalangeal joints [HPO term]
- Epicanthus [HPO term]
- Esodeviation [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Freckling [HPO term]
- Frontal bossing [HPO term]
- Gait imbalance [HPO term]
- Generalized hypotonia [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Global developmental delay [HPO term]
- Hammertoe [HPO term]
- Highly arched eyebrow [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Inverted nipples [HPO term]
- Lacrimal duct stenosis [HPO term]
- Long face [HPO term]
- Long thorax [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Low-set nipples [HPO term]
- Lower limb amyotrophy [HPO term]
- Lower limb asymmetry [HPO term]
- Lower limb hypertonia [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Midface retrusion [HPO term]
- Myopia [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal respiratory distress [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Plagiocephaly [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent antihelix [HPO term]
- Prominent antitragus [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent umbilicus [HPO term]
- Proptosis [HPO term]
- Protuberant abdomen [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Respiratory distress [HPO term]
- Sandal gap [HPO term]
- Seizure [HPO term]
- Short hallux [HPO term]
- Short philtrum [HPO term]
- Sleep disturbance [HPO term]
- Small earlobe [HPO term]
- Sparse medial eyebrow [HPO term]
- Thin eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Underdeveloped tragus [HPO term]
- Upper eyelid edema [HPO term]
- Upper limb amyotrophy [HPO term]
- Ventricular septal defect [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
Not associated HPO term(s)
- Webbed neck [HPO term]
ORDO concept(s)
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients