GPS
MCID: GNT031
MIFTS: 42

Genitopatellar Syndrome (GPS) malady

Neuronal diseases, Bone diseases, Fetal diseases, Nephrological diseases, Blood diseases categories

Summaries for Genitopatellar Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 gray platelet syndrome and leukemia, and has symptoms including hearing loss/hypoacusia/deafness, speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia and seizures/epilepsy/absences/spasms/status epilepticus. 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. Affiliated tissues include testes, lung and kidney, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:63 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Description from OMIM:46 606170

Aliases & Classifications for Genitopatellar Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
genitopatellar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

genitopatellar syndrome 42 20 22 21 46 44 48 60
absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation 42 21
absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit 48
gray platelet syndrome 60
gtpts 42
gps 21


External Ids:

OMIM46 606170
ICD10 via Orphanet26 Q87.8

Related Diseases for Genitopatellar Syndrome

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

606170

Clinical synopsis from OMIM:

606170

Symptoms:

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

Drugs & Therapeutics for Genitopatellar Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Genitopatellar Syndrome:

id Genetic test Affiliating Genes
1 Genitopatellar Syndrome20 22

Anatomical Context for Genitopatellar Syndrome

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32MalaCards
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MalaCards organs/tissues related to Genitopatellar Syndrome:

32
Testes, Lung, Kidney, Bone

Animal Models for Genitopatellar Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Genitopatellar Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2LMX1B, KAT6B
2MP:00053829.1LMX1B, KAT6B
3MP:00053909.1LMX1B, KAT6B
4MP:00053919.0KAT6B, LMX1B
5MP:00053698.8KAT6B, LMX1B

Publications for Genitopatellar Syndrome

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Genetic Variations for Genitopatellar Syndrome

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Expression for genes affiliated with Genitopatellar Syndrome

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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

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Compounds for genes affiliated with Genitopatellar Syndrome

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44Novoseek, 24HMDB
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Compounds related to Genitopatellar Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 2410.1LMX1B, KAT6B

GO Terms for genes affiliated with Genitopatellar Syndrome

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Genitopatellar Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet