Genitopatellar Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Genitopatellar Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Genitopatellar syndome (GPS) is a genetic condition which affects different parts of the body. The most common signs and symptoms (features) of GPS include abnormal genitals (for boys, undescended testicles and underdeveloped scrotum; for girls, small labia and large clitoris), missing or underdeveloped kneecaps (patellae), stiff large joints with limited movement (such as contractures of hips and knees or clubfoot), developmental delay, and intellectual disabilities. Other features may include missing the structure that connects the two sides of the brain (agenesis of the corpus callosum), swelling of the kidney due to build up of urine (hydronephrosis) and congenital heart defects (the baby's heart did not form normally). Thyroid problems have been reported in some cases. Genitopatellar syndrome (GPS) is caused by changes or mutations in the KAT6B gene.. Diagnosis of GPS is usually suspected by the signs and symptoms (features) seen in the child. It is confirmed by genetic testing. There is no cure for GPS. Treatment focuses on the features present in each child and may include surgery (for example to correct heart defects or clubfoot), speech therapy, physical therapy (to increase range of motion of joints), and early childhood intervention and special education programs (for developmental delays and intellectual disability). As of 2016, medical researchers are trying to decide if genitopatellar syndrome (GPS) is a separate syndrome from Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS). Both syndromes are caused by changes (mutations) in the same gene (KAT6B). The two syndromes also share a lot of the same features, and some children with mutations in KAT6B gene have a combination of features that fall in between the GPS and SBBYSS. This suggests that GPS and SBBYSS may be two ends of a spectrum of the same syndrome.. Last updated: 1/10/2017
MalaCards based summary: Genitopatellar Syndrome, also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, is related to gray platelet syndrome and glanzmann thrombasthenia, and has symptoms including cryptorchidism, scrotal hypoplasia and abnormality of female external genitalia. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart, kidney and brain.
Genetics Home Reference:25 Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.
OMIM:51 Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and... (606170) more...
UniProtKB/Swiss-Prot:69 Genitopatellar syndrome: 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.
Wikipedia:70 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...
Human phenotypes related to Genitopatellar Syndrome:63 53 (show all 66)
MalaCards organs/tissues related to Genitopatellar Syndrome:35
Heart, Kidney, Brain, Testes, Thyroid, Bone, Lung
Articles related to Genitopatellar Syndrome:(show all 17)
Clinvar genetic disease variations for Genitopatellar Syndrome:5 (show all 13)
Search GEO for disease gene expression data for Genitopatellar Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet