Genitopatellar Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Genitopatellar Syndrome:
Orphanet epidemiological data:52
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
OMIM:50 Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and... (606170) more...
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 bone, kidney and lung.
Genetics Home Reference:24 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.
UniProtKB/Swiss-Prot:68 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:69 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...
Symptoms by clinical synopsis from OMIM:606170
Clinical features from OMIM:606170
Symptoms:52 (show all 38)
HPO human phenotypes related to Genitopatellar Syndrome:(show all 69)
MalaCards organs/tissues related to Genitopatellar Syndrome:34
Bone, Kidney, Lung
Articles related to Genitopatellar Syndrome:(show all 16)
Clinvar genetic disease variations for Genitopatellar Syndrome:5
Search GEO for disease gene expression data for Genitopatellar Syndrome.
Biological processes related to Genitopatellar Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Genitopatellar Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet