Global Information Lookup Global Information

Genitopatellar syndrome information


Genitopatellar syndrome
Other namesAbsent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome[1]

Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability.[2] In 2012, it was shown that mutations in the gene KAT6B cause the syndrome.[3] Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene.[2]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Genitopatellar syndrome". www.orpha.net. Retrieved 15 March 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ a b Penttinen, M; Koillinen, H; Niinikoski, H; Mäkitie, O; Hietala, M (March 2009). "Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities". American Journal of Medical Genetics. Part A. 149A (3): 451–5. doi:10.1002/ajmg.a.32644. PMID 19208376. S2CID 13523168.
  3. ^ Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH (Jan 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American Journal of Human Genetics. 90 (2): 282–9. doi:10.1016/j.ajhg.2011.11.023. PMC 3276659. PMID 22265014.

and 9 Related for: Genitopatellar syndrome information

Request time (Page generated in 0.7881 seconds.)

Genitopatellar syndrome

Last Update:

Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital...

Word Count : 1310

List of syndromes

Last Update:

Gastrointestinal syndrome Genitopatellar syndrome Gerstmann syndrome Gerstmann–Sträussler–Scheinker syndrome Geschwind syndrome Gianotti–Crosti syndrome Giant platelet...

Word Count : 4052

Agenesis of the corpus callosum

Last Update:

Fetal warfarin syndrome Genitopatellar syndrome Gomez-Lopez-Hernandez syndrome Joubert syndrome Lujan–Fryns syndrome Marden–Walker syndrome Maternal nutritional...

Word Count : 1168

Synostosis

Last Update:

4p- syndrome, Williams syndrome), acrofacial dysostosis, Antley–Bixler syndrome, genitopatellar syndrome, Greig cephalopolysyndactyly syndrome, hereditary...

Word Count : 423

Micrognathism

Last Update:

syndrome Fraser syndrome 3 Galloway-Mowat syndrome 1, 2 (X-linked), 3, and 7 GAPO syndrome Gaucher disease perinatal lethal Genitopatellar syndrome Gordon...

Word Count : 1343

Ciliopathy

Last Update:

a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...

Word Count : 2499

Chromosome 10

Last Update:

porphyria Cowden syndrome Crouzon syndrome Genitopatellar syndrome Glioblastoma multiforme Gorlin syndrome HADDS syndrome Hermansky–Pudlak syndrome Hirschprung...

Word Count : 1967

KAT6B

Last Update:

de novo mutations in the gene KAT6B causes Young–Simpson syndrome and genitopatellar syndrome. ENSG00000281813 GRCh38: Ensembl release 89: ENSG00000156650...

Word Count : 1058

Blepharophimosis intellectual disability syndromes

Last Update:

Blepharophimosis intellectual disability syndromes are a group of rare genetic disorders which are characterized by blepharophimosis, ptosis, and intellectual...

Word Count : 495
PDF Search Engine © AllGlobal.net