GPS
MCID: GNT031
MIFTS: 47

Genitopatellar Syndrome (GPS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Genitopatellar Syndrome

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 leukemia and bernard-soulier syndrome, and has symptoms including megaureter/hydronephrosis/pyeloureteral junction syndrome, hypotrichosis/atrichia/atrichiasis/scalp hairlessness and high nasal bridge. 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:66 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Description from OMIM:48 606170

Aliases & Classifications for Genitopatellar Syndrome

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
genitopatellar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

genitopatellar syndrome 44 21 23 22 48 46 50 63
absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation 44 22
absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual disability 50
gray platelet syndrome 63
gtpts 44
gps 22


External Ids:

OMIM48 606170
ICD10 via Orphanet27 Q87.8

Related Diseases for Genitopatellar Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Genitopatellar Syndrome:



Diseases related to genitopatellar syndrome

Symptoms for Genitopatellar Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

606170

Clinical features from OMIM:

606170

Symptoms:

50 (show all 35)
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • high nasal bridge
  • arthrogryposis
  • atrial septal defect/interauricular communication
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • 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)
  • insterstitial/subtelomeric microdeletion/deletion
  • long/large/bulbous nose
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • 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
  • hypertelorism

Drugs & Therapeutics for Genitopatellar Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Genitopatellar Syndrome:

id Genetic test Affiliating Genes
1 Genitopatellar Syndrome21 23

Anatomical Context for Genitopatellar Syndrome

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34MalaCards
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MalaCards organs/tissues related to Genitopatellar Syndrome:

34
Testes, Lung, Kidney, Bone

Animal Models for Genitopatellar Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Genitopatellar Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2LMX1B, KAT6B
2MP:00053829.1LMX1B, KAT6B
3MP:00053909.1LMX1B, KAT6B
4MP:00053919.0KAT6B, LMX1B
5MP:00053698.8LMX1B, KAT6B

Publications for Genitopatellar Syndrome

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53PubMed
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Articles related to Genitopatellar Syndrome:

(show all 15)
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
Genitopatellar syndrome: a recognizable phenotype. (12210329)
2002
14
Genitopatellar syndrome: delineating the anomalies of female genitalia. (12210330)
2002
15
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. (10882755)
2000

Variations for Genitopatellar Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Genitopatellar Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1KAT6BKAT6B, DEL/INS, NT4360indelPathogenic/card/genitopatellar_syndrome
2KAT6BNM_012330.3(KAT6B): c.3769_3772delTCTA (p.Lys1258Glyfs)deletionPathogenicrs199470470GRCh37Chr 10, 76788351: 76788354
3KAT6BKAT6B, 2-BP DEL, 3788AAdeletionPathogenic
4KAT6BNM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter)single nucleotide variantPathogenicrs199470475GRCh37Chr 10, 76788474: 76788474
5KAT6BNM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter)single nucleotide variantPathogenicrs199470473GRCh37Chr 10, 76788384: 76788384
6KAT6BKAT6B, 4-BP DEL, NT1227deletionPathogenic
7NBEAL2NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs387907112GRCh37Chr 3, 47038800: 47038800
8NBEAL2NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro)single nucleotide variantPathogenicrs387907113GRCh37Chr 3, 47035476: 47035476
9NBEAL2NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val)single nucleotide variantPathogenicrs387907114GRCh37Chr 3, 47037233: 47037233
10NBEAL2NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu)single nucleotide variantPathogenicrs387907115GRCh37Chr 3, 47046466: 47046466

Expression for genes affiliated with Genitopatellar Syndrome

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2BioGPS, 16Gene 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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46Novoseek, 25HMDB
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Compounds related to Genitopatellar Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc46 2510.1LMX1B, KAT6B

GO Terms for genes affiliated with Genitopatellar Syndrome

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17Gene Ontology
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Biological processes related to Genitopatellar Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-templatedGO:0063519.1LMX1B, KAT6B
2regulation of transcription, DNA-templatedGO:0063558.8LMX1B, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet