Details of Disease | DrugMAP

General Information of Disease (ID: DIS5E2L7)

Disease Name	Genitopatellar syndrome
Synonyms	absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation; GENITOPATELLAR syndrome; absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability; GTPTS; genitopatellar syndrome; absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
Definition	Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISHPNVX: Dysplasia DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS5Z8U6: Skeletal dysplasia DIS5E2L7: Genitopatellar syndrome
Disease Identifiers	MONDO ID MONDO_0011640 MESH ID C565255 UMLS CUI C1853566 OMIM ID 606170 MedGen ID 381208 Orphanet ID 85201 SNOMED CT ID 702367005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KAT6B	TTH4VJL	Limited	Genetic Variation	[1]
KAT6B	TTH4VJL	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMX1B	OTM8145D	Strong	Biomarker	[3]
TBX4	OTW58FG4	Strong	Biomarker	[4]
KAT6B	OTMUDTAH	Definitive	Autosomal dominant	[2]
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References

1	Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?.Clin Genet. 2019 Feb;95(2):253-261. doi: 10.1111/cge.13127. Epub 2018 Jan 25.
2	Further delineation of the KAT6B molecular and phenotypic spectrum. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26.
3	Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.Am J Med Genet A. 2007 May 15;143A(10):1071-81. doi: 10.1002/ajmg.a.31685.
4	Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.Am J Med Genet A. 2006 Jul 15;140(14):1567-72. doi: 10.1002/ajmg.a.31258.