Genitopatellar syndrome

Preferred Label : Genitopatellar syndrome;

Symbol : GTPTS;

CISMeF acronym : GTPTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation;

Description : Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by Penttinen et al., 2009). The SBBYS variant of Ohdo syndrome (603736) is an allelic disorder with overlapping features.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the K(lysine) acetyltransferase 6B gene (KAT6B, 605880.0005);

Prefixed ID : #606170;

Details

Origin ID

606170;

UMLS CUI

C1853566;

Automatic exact mappings (from CISMeF team)
- Genito-patellar syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Genitopatellar syndrome [ORDO Disease]
- Genitopatellar syndrome (disorder) [SNOMED CT concept]
- genitopatellar syndrome [Disease (Nov.)]
- genitopatellar syndrome [MeSH concept]
- genitopatellar syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Lysine acetyltransferase 6b [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Clitoral hypertrophy [HPO term]
- Coarse facial features [HPO term]
- Colpocephaly [HPO term]
- Congenital hip dislocation [HPO term]
- Cryptorchidism [HPO term]
- Delayed eruption of teeth [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Enlarged labia minora [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High nasal bridge [HPO term]
- Hip contracture [HPO term]
- Hydronephrosis [HPO term]
- Hypoplastic inferior pubic rami [HPO term]
- Hypoplastic ischia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Knee flexion contracture [HPO term]
- Large nose [HPO term]
- Laryngomalacia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Patellar aplasia [HPO term]
- Patellar dislocation [HPO term]
- Periventricular heterotopia [HPO term]
- Polyhydramnios [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nose [HPO term]
- Psychomotor retardation [HPO term]
- Pulmonary hypoplasia [HPO term]
- Radioulnar synostosis [HPO term]
- Short phalanx of finger [HPO term]
- Small scrotum [HPO term]
- Sparse scalp hair [HPO term]
- Talipes equinovarus [HPO term]
- Ventricular septal defect [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Genitopatellar syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Genitopatellar syndrome [ORDO Disease]
- Genitopatellar syndrome (disorder) [SNOMED CT concept]
- genitopatellar syndrome [MeSH Supplementary Concept]
- genitopatellar syndrome [MeSH concept]
- genitopatellar syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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