Coffin-lowry syndrome

Preferred Label : Coffin-lowry syndrome;

Symbol : CLS;

CISMeF acronym : CLS;

Type : Phenotype, molecular basis known;

Description : Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females (Kesler et al., 2007). Hendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (301040), ICF syndrome (242860), Rett syndrome (312750), Rubinstein-Taybi syndrome (180849), and Coffin-Lowry syndrome. Marques Pereira et al. (2010) provided a review of Coffin-Lowry syndrome. Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19 (MRX19; 300844), a milder disorder without skeletal anomalies.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ribosomal protein S6 kinase, 90kD, polypeptide 3 gene (RPS6KA3, 300075.0001);

Prefixed ID : #303600;

Details

Origin ID

303600;

UMLS CUI

C0265252;

Automatic exact mappings (from CISMeF team)
- Capillary Leak Syndrome [NCIt concept]
- Centiliter [NCIt concept]
- Centiliter (qualifier value) [SNOMED CT concept]
- Chloride Ion [NCIt concept]
- Chlorine [NCIt concept]
- Clinical Observation Domain [NCIt concept]
- Crown-Like Structure [NCIt concept]
- RPS6KA3 wt Allele [NCIt concept]
- cholecystectomy, laparoscopic [MeSH Descriptor]
- chorismate lyase activity [GO term]
- classification [MeSH Descriptor]
- symbol withdrawn CLS [HGNC gene]
- syndactyly cenani lenz type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Coffin Lowry syndrome [Disease (Nov.)]
- Coffin-Lowry Syndrome [NCIt concept]
- Coffin-Lowry syndrome [PASCAL descriptor]
- Coffin-Lowry syndrome [DO Concept]
- Coffin-Lowry syndrome [ICD-11 More detail]
- Coffin-Lowry syndrome [MedDRA Preferred Term]
- Coffin-Lowry syndrome [MeSH Descriptor]
- Coffin-Lowry syndrome [MeSH concept]
- Coffin-Lowry syndrome [ORDO Disease]
- Coffin-Lowry syndrome (disorder) [SNOMED CT concept]
- coffin-lowry syndrome [SNOMED Notion]
DO Cross reference
- Coffin-Lowry syndrome [DO Concept]
False automatic mappings
- Chile [NCIt concept]
Genes related to phenotype
- Ribosomal protein s6 kinase a3 [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of the nasal alae [HPO term]
- Acrocyanosis [HPO term]
- Anteverted nares [HPO term]
- Bifid sternum [HPO term]
- Broad palm [HPO term]
- Coarse facial features [HPO term]
- Coarse hair [HPO term]
- Coxa valga [HPO term]
- Cutis laxa [HPO term]
- Cutis marmorata [HPO term]
- Decreased body weight [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Drumstick terminal phalanges [HPO term]
- Everted lower lip vermilion [HPO term]
- Generalized hypotonia [HPO term]
- Heavy arched eyebrows [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperconvex fingernails [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Lumbar kyphosis [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Mitral regurgitation [HPO term]
- Narrow iliac wing [HPO term]
- Narrow palate [HPO term]
- Open mouth [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Prominent ears [HPO term]
- Prominent supraorbital ridges [HPO term]
- Protruding ear [HPO term]
- Rectal prolapse [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Sporadic [HPO term]
- Tapered finger [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Thick nasal septum [HPO term]
- Thick, everted lower lip [HPO term]
- Thickened calvaria [HPO term]
- Uterine prolapse [HPO term]
- Ventriculomegaly [HPO term]
- Wide nose [HPO term]
- Widely spaced teeth [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Coffin-Lowry syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coffin Lowry syndrome [Disease (Nov.)]
- Coffin-Lowry Syndrome [NCIt concept]
- Coffin-Lowry syndrome [ORDO Disease]
- Coffin-Lowry syndrome [MeSH Descriptor]
- Coffin-Lowry syndrome [MeSH concept]
- Coffin-Lowry syndrome [DO Concept]
- Coffin-Lowry syndrome [PASCAL descriptor]
- Coffin-Lowry syndrome [MedDRA Preferred Term]
- Coffin-Lowry syndrome (disorder) [SNOMED CT concept]
- coffin-lowry syndrome [SNOMED Notion]

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