Genitopatellar Syndrome malady
Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
Aliases & Descriptions for Genitopatellar Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
OMIM:49 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 leukemia and thrombasthenia, and has symptoms including cryptorchidism, scrotal hypoplasia and abnormality of female external genitalia. An important gene associated with Genitopatellar Syndrome is KAT6B (K(Lysine) Acetyltransferase 6B). Affiliated tissues include kidney, testes and lung, and related mouse phenotypes are limbs/digits/tail and craniofacial.
Genetics Home Reference:23 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:67 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:68 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:51 (show all 35)
HPO human phenotypes related to Genitopatellar Syndrome:(show all 70)
MalaCards organs/tissues related to Genitopatellar Syndrome:33
Kidney, Testes, Lung, Bone
Articles related to Genitopatellar Syndrome:(show all 14)
Clinvar genetic disease variations for Genitopatellar Syndrome:5
Search GEO for disease gene expression data for Genitopatellar Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet