GPS
MCID: GNT031
MIFTS: 47

Genitopatellar Syndrome (GPS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
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Summaries for Genitopatellar Syndrome

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Sources:
21Genetics Home Reference, 65Wikipedia, 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 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:65 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Description from OMIM:47 606170

Aliases & Classifications for Genitopatellar Syndrome

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



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 62
absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation 43 21
absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual disability 49
gray platelet syndrome 62
gtpts 43
gps 21


External Ids:

OMIM47 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

Symptoms for Genitopatellar Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

606170

Clinical features from OMIM:

606170

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Genitopatellar Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Genitopatellar Syndrome:

33
Testes, Lung, Kidney, Bone

Animal Models for Genitopatellar Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Genitopatellar Syndrome:

37
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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52PubMed
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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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Genitopatellar Syndrome

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Pathways for genes affiliated with Genitopatellar Syndrome

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Compounds for genes affiliated with Genitopatellar Syndrome

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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

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Sources:
16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet