Primrose syndrome

Preferred Label : Primrose syndrome;

Symbol : PRIMS;

CISMeF acronym : PRIMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes;

Description : Primrose syndrome consists of recognizable facial features, macrocephaly, mental retardation, enlarged and calcified external ears, sparse body hair, and distal muscle wasting (summary by Carvalho and Speck-Martins, 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger and BTB-domain containing 20 gene (ZBTB20, 606025.0001);

Prefixed ID : #259050;

Details

Origin ID

259050;

UMLS CUI

C0796121;

Automatic exact mappings (from CISMeF team)
- Order Primates (organism) [SNOMED CT concept]
- ZBTB20 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome [ORDO Disease]
- Primrose syndrome [MeSH concept]
- primrose syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Zinc finger- and btb domain-containing protein 20 [OMIM gene]
HPO term(s)
- Absent axillary hair [HPO term]
- Absent facial hair [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basilar impression [HPO term]
- Bilateral cryptorchidism [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Calcification of the auricular cartilage [HPO term]
- Cerebral calcification [HPO term]
- Congenital hypothyroidism [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Diabetes mellitus [HPO term]
- Distal amyotrophy [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Dystrophic fingernails [HPO term]
- Elevated alpha-fetoprotein [HPO term]
- Flexion contracture [HPO term]
- Generalized osteoporosis [HPO term]
- Genu valgum [HPO term]
- Glucose intolerance [HPO term]
- Gynecomastia [HPO term]
- Hearing impairment [HPO term]
- Hip contracture [HPO term]
- Hip dysplasia [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Increased size of the mandible [HPO term]
- Intellectual disability [HPO term]
- Irregular vertebral endplates [HPO term]
- Isolated cases [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Metatarsus adductus [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow iliac wing [HPO term]
- Narrow mouth [HPO term]
- Neurodegeneration [HPO term]
- Osteoporosis [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Posterior polar cataract [HPO term]
- Posterior scalloping of vertebral bodies [HPO term]
- Ptosis [HPO term]
- Reduced bone mineral density [HPO term]
- Restlessness [HPO term]
- Self-injurious behavior [HPO term]
- Short distal phalanx of finger [HPO term]
- Short stature [HPO term]
- Sparse body hair [HPO term]
- Sparse scalp hair [HPO term]
- Sporadic [HPO term]
- Superiorly displaced ears [HPO term]
- Synophrys [HPO term]
- Thick lower lip vermilion [HPO term]
- Tics [HPO term]
- Torus palatinus [HPO term]
- Truncal obesity [HPO term]
- absent facial, axillary, body hair [HPO term]
ORDO concept(s)
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome [ORDO Disease]
- Primrose syndrome [MeSH concept]
- primrose syndrome [MeSH Supplementary Concept]

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