GPS
MCID: GNT031
MIFTS: 39

Genitopatellar Syndrome (GPS) malady

Neuronal, Bone, Fetal, Nephrological, Blood categories

Summaries for Genitopatellar Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Genitopatellar Syndrome, also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, is related to bernard-soulier syndrome and thrombasthenia, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and autosomal recessive inheritance. An important gene associated with Genitopatellar Syndrome is KAT6B (K(lysine) acetyltransferase 6B). The compound zinc have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:64 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Description from OMIM:47 606170

Aliases & Classifications for Genitopatellar Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Bone, Nephrological, Blood


Characteristics (Orphanet epidemiological data):

49
genitopatellar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

genitopatellar syndrome 43 20 22 21 47 45 49 61
absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation 43 21
absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit 49
gray platelet syndrome 61
gtpts 43
gps 21


External Ids:

OMIM47 606170
ICD10 via Orphanet26 Q87.8

Related Diseases for Genitopatellar Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Genitopatellar Syndrome:



Diseases related to genitopatellar syndrome

Clinical Features for Genitopatellar Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

606170

Clinical synopsis from OMIM:

606170

Symptoms:

49 (show all 35)
  • hypertelorism
  • low set ears/posteriorly rotated ears
  • autosomal recessive inheritance
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • apnea/sleep apnea
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hearing loss/hypoacusia/deafness
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • broad nose/nasal bridge
  • short stature/dwarfism/nanism
  • microcephaly
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • long philtrum
  • micrognathia/retrognathia/micrognathism/retrognathism
  • short hand/brachydactyly
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • long/large/bulbous nose
  • insterstitial/subtelomeric microdeletion/deletion
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • atrial septal defect/interauricular communication
  • arthrogryposis
  • high nasal bridge
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • polycystic kidneys
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • fine hair
  • radioulnar synostosis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • talipes-valgus
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • patella absent/abnormal (excluding luxation)

Drugs & Therapeutics for Genitopatellar Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Genitopatellar Syndrome

Drug clinical trials:

Search ClinicalTrials for Genitopatellar Syndrome

Search NIH Clinical Center for Genitopatellar Syndrome

Search CenterWatch for Genitopatellar Syndrome

Genetic Tests for Genitopatellar Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Genitopatellar Syndrome:

id Genetic test Affiliating Genes
1 Genitopatellar Syndrome20 22

Anatomical Context for Genitopatellar Syndrome

Animal Models for Genitopatellar Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Genitopatellar Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2KAT6B, LMX1B
2MP:00053829.1LMX1B, KAT6B
3MP:00053909.1KAT6B, LMX1B
4MP:00053699.0LMX1B, KAT6B
5MP:00053918.8LMX1B, KAT6B

Publications for Genitopatellar Syndrome

Sources:
51PubMed
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Articles related to Genitopatellar Syndrome:

(show all 16)
idTitleAuthorsYear
1
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. (22568963)
2013
2
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. (22265017)
2012
3
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (22715153)
2012
4
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (22265014)
2012
5
Another case of genitopatellar syndrome: a case report with additional rare coexistences. (22922314)
2012
6
Genitopatellar syndrome: a further case. (21412151)
2011
7
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. (20182757)
2011
8
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. (19208376)
2009
9
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. (19500117)
2009
10
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. (17431898)
2007
11
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. (16761293)
2006
12
Genitopatellar syndrome: expanding the phenotype. (12949978)
2003
13
Report of a new case of &quot;genitopatellar&quot; syndrome which challenges the importance of absent patellae as a defining feature. (12471209)
2002
14
Genitopatellar syndrome: a recognizable phenotype. (12210329)
2002
15
Genitopatellar syndrome: delineating the anomalies of female genitalia. (12210330)
2002
16
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. (10882755)
2000

Genetic Variations for Genitopatellar Syndrome

Expression for genes affiliated with Genitopatellar Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Genitopatellar Syndrome

Search GEO for disease gene expression data for Genitopatellar Syndrome.

Pathways for genes affiliated with Genitopatellar Syndrome

Compounds for genes affiliated with Genitopatellar Syndrome

Sources:
45Novoseek, 24HMDB
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Compounds related to Genitopatellar Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc45 2410.1LMX1B, KAT6B

GO Terms for genes affiliated with Genitopatellar Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Genitopatellar Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of transcription, DNA-dependentGO:0063559.1LMX1B, KAT6B

Molecular functions related to Genitopatellar Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1zinc ion bindingGO:0082709.1LMX1B, KAT6B

Products for genes affiliated with Genitopatellar Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Genitopatellar Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet