Au-kline syndrome

Preferred Label : Au-kline syndrome;

Symbol : AUKS;

CISMeF acronym : AUKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Au-kline-okamoto syndrome; Hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation; Okamoto syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK, 600712.0001);

Prefixed ID : #616580;

Details

Origin ID

616580;

UMLS CUI

C1858043;

Automatic exact mappings (from CISMeF team)
- HNRNPK wt Allele [NCIt concept]
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation [ORDO Disease]
Genes related to phenotype
- Heterogeneous nuclear ribonucleoprotein k [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Constipation [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Deep palmar crease [HPO term]
- Deep plantar creases [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hip dysplasia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Inverted nipples [HPO term]
- Long face [HPO term]
- Long palpebral fissure [HPO term]
- Microtia [HPO term]
- Oligodontia [HPO term]
- Open mouth [HPO term]
- Overlapping toe [HPO term]
- Pectus excavatum [HPO term]
- Poor speech [HPO term]
- Postaxial polydactyly [HPO term]
- Ptosis [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Sparse lateral eyebrow [HPO term]
- Thickened nuchal skin fold [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal ridge [HPO term]
ORDO concept(s)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome [ORDO Disease]
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation [ORDO Disease]
- Okamoto syndrome (disorder) [SNOMED CT concept]
- hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation [MeSH concept]
- hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation [MeSH Supplementary Concept]

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