GTPTS
MCID: GNT031
MIFTS: 39

Genitopatellar Syndrome (GTPTS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Nephrological diseases, Mental diseases

Aliases & Classifications for Genitopatellar Syndrome

About this section

Aliases & Descriptions for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 52 48 24 25 54 70 27 12 50 68
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 48 54
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 48 25
 
Gtpts 48 70
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 70
Gps 25

Characteristics:

Orphanet epidemiological data:

54
genitopatellar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64

Classifications:



External Ids:

OMIM52 606170
Orphanet54 ORPHA85201
ICD10 via Orphanet31 Q87.8
MedGen37 C1853566
MeSH39 D000015

Summaries for Genitopatellar Syndrome

About this section
NIH Rare Diseases:48 Genitopatellar syndome (gps) is a genetic condition which affects different parts of the body. the most common signs and symptoms (features) of gps include abnormal genitals (for boys, undescended testicles and underdeveloped scrotum; for girls, small labia and large clitoris), missing or underdeveloped kneecaps (patellae), stiff large joints with limited movement (such as contractures of hips and knees or clubfoot), developmental delay, and intellectual disabilities. other features may include missing the structure that connects the two sides of the brain (agenesis of the corpus callosum), swelling of the kidney due to build up of urine (hydronephrosis) and congenital heart defects (the baby's heart did not form normally). thyroid problems have been reported in some cases. genitopatellar syndrome (gps) is caused by changes or mutations in the kat6b gene.. diagnosis of gps is usually suspected by the signs and symptoms (features) seen in the child. it is confirmed by genetic testing. there is no cure for gps. treatment focuses on the features present in each child and may include surgery (for example to correct heart defects or clubfoot), speech therapy, physical therapy (to increase range of motion of joints), and early childhood intervention and special education programs (for developmental delays and intellectual disability). as of 2016, medical researchers are trying to decide if genitopatellar syndrome (gps) is a separate syndrome from say–barber–biesecker–young–simpson syndrome (sbbyss). both syndromes are caused by changes (mutations) in the same gene (kat6b). the two syndromes also share a lot of the same features, and some children with mutations in kat6b gene have a combination of features that fall in between the gps and sbbyss. this suggests that gps and sbbyss may be two ends of a spectrum of the same syndrome.. last updated: 1/10/2017

MalaCards based summary: Genitopatellar Syndrome, also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome, is related to gray platelet syndrome and glanzmann thrombasthenia, and has symptoms including Array, Array and Array. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart, kidney and testes, and related mouse phenotype Decreased shRNA abundance.

UniProtKB/Swiss-Prot:70 Genitopatellar syndrome: A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies.

Genetics Home Reference:25 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.

OMIM:52 Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and... (606170) more...

Wikipedia:71 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Related Diseases for Genitopatellar Syndrome

About this section

Graphical network of the top 20 diseases related to Genitopatellar Syndrome:



Diseases related to genitopatellar syndrome

Symptoms & Phenotypes for Genitopatellar Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

606170

Clinical features from OMIM:

606170

Human phenotypes related to Genitopatellar Syndrome:

 54 64 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 Very frequent (99-80%) HP:0000003
2 cryptorchidism64 54 Very frequent (99-80%) HP:0000028
3 scrotal hypoplasia64 54 Very frequent (99-80%) HP:0000046
4 hydronephrosis64 54 Very frequent (99-80%) HP:0000126
5 microcephaly64 54 Very frequent (99-80%) HP:0000252
6 coarse facial features64 54 Very frequent (99-80%) HP:0000280
7 hypertelorism64 54 Frequent (79-30%) HP:0000316
8 long philtrum64 54 Frequent (79-30%) HP:0000343
9 micrognathia64 54 Frequent (79-30%) HP:0000347
10 hearing impairment64 54 Occasional (29-5%) HP:0000365
11 low-set ears64 54 Frequent (79-30%) HP:0000369
12 prominent nasal bridge64 54 Very frequent (99-80%) HP:0000426
13 wide nose64 54 Very frequent (99-80%) HP:0000445
14 prominent nose64 54 Very frequent (99-80%) HP:0000448
15 delayed eruption of teeth64 54 Frequent (79-30%) HP:0000684
16 delayed speech and language development64 54 Frequent (79-30%) HP:0000750
17 hypoplastic ilia64 54 Very frequent (99-80%) HP:0000946
18 intellectual disability64 54 Very frequent (99-80%) HP:0001249
19 seizures64 54 Frequent (79-30%) HP:0001250
20 global developmental delay64 54 Very frequent (99-80%) HP:0001263
21 agenesis of corpus callosum64 54 Frequent (79-30%) HP:0001274
22 atria septal defect54 Occasional (29-5%)
23 talipes equinovarus64 54 Frequent (79-30%) HP:0001762
24 gastroesophageal reflux64 54 Occasional (29-5%) HP:0002020
25 pulmonary hypoplasia64 54 Occasional (29-5%) HP:0002089
26 apnea64 54 Occasional (29-5%) HP:0002104
27 sparse scalp hair64 54 Frequent (79-30%) HP:0002209
28 fine hair64 54 Frequent (79-30%) HP:0002213
29 arthrogryposis multiplex congenita64 54 Very frequent (99-80%) HP:0002804
30 radioulnar synostosis64 54 Occasional (29-5%) HP:0002974
31 hypoplastic ischia64 54 Very frequent (99-80%) HP:0003175
32 hip contracture64 54 Very frequent (99-80%) HP:0003273
33 short palm64 54 Very frequent (99-80%) HP:0004279
34 short stature64 54 Occasional (29-5%) HP:0004322
35 knee flexion contracture64 54 Very frequent (99-80%) HP:0006380
36 patellar aplasia64 54 Very frequent (99-80%) HP:0006443
37 clitoral hypertrophy64 54 Very frequent (99-80%) HP:0008665
38 feeding difficulties64 54 Occasional (29-5%) HP:0011968
39 micropenis64 HP:0000054
40 downslanted palpebral fissures64 HP:0000494
41 brachydactyly syndrome64 HP:0001156
42 muscular hypotonia64 HP:0001252
43 congenital hip dislocation64 HP:0001374
44 polyhydramnios64 HP:0001561
45 laryngomalacia64 HP:0001601
46 ventricular septal defect64 HP:0001629
47 atrial septal defect64 HP:0001631
48 dysphagia64 HP:0002015
49 patellar dislocation64 HP:0002999
50 intellectual disability, progressive64 HP:0006887
51 periventricular gray matter heterotopia64 HP:0007165
52 enlarged labia minora64 HP:0008683
53 hypoplastic inferior pubic rami64 HP:0008823
54 short phalanx of finger64 HP:0009803
55 colpocephaly64 HP:0030048

GenomeRNAi Phenotypes related to Genitopatellar Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00251-A-26.5KAT6B, LMX1B, NBEAL2, KAT6B, LMX1B, NBEAL2

Drugs & Therapeutics for Genitopatellar Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Genitopatellar Syndrome

Genetic Tests for Genitopatellar Syndrome

About this section

Genetic tests related to Genitopatellar Syndrome:

id Genetic test Affiliating Genes
1 Genitopatellar Syndrome27 24

Anatomical Context for Genitopatellar Syndrome

About this section

MalaCards organs/tissues related to Genitopatellar Syndrome:

36
Heart, Kidney, Testes, Thyroid, Brain, Bone

Publications for Genitopatellar Syndrome

About this section

Articles related to Genitopatellar Syndrome:

(show all 18)
idTitleAuthorsYear
1
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. (28426343)
2017
2
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: a recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. (27696664)
2016
3
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. (27452416)
2016
4
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. (22568963)
2013
5
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (22715153)
2012
6
Another case of genitopatellar syndrome: a case report with additional rare coexistences. (22922314)
2012
7
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. (22265017)
2012
8
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (22265014)
2012
9
Genitopatellar syndrome: a further case. (21412151)
2011
10
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. (20182757)
2011
11
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. (19500117)
2009
12
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. (19208376)
2009
13
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
14
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. (16761293)
2006
15
Genitopatellar syndrome: expanding the phenotype. (12949978)
2003
16
Genitopatellar syndrome: a recognizable phenotype. (12210329)
2002
17
Genitopatellar syndrome: delineating the anomalies of female genitalia. (12210330)
2002
18
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. (10882755)
2000

Variations for Genitopatellar Syndrome

About this section

Clinvar genetic disease variations for Genitopatellar Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KAT6BNM_ 012330.3(KAT6B): c.3681_ 3696del16 (p.Asp1227Glufs)deletionPathogenicrs199470469GRCh37Chr 10, 76788263: 76788278
2KAT6BNM_ 012330.3(KAT6B): c.3788_ 3789delAA (p.Lys1263Argfs)deletionPathogenicrs199470472GRCh37Chr 10, 76788370: 76788371
3KAT6BNM_ 012330.3(KAT6B): c.4360_ 4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs)indelPathogenicrs199470478GRCh37Chr 10, 76788942: 76788950
4KAT6BNM_ 012330.3(KAT6B): c.3769_ 3772delTCTA (p.Lys1258Glyfs)deletionPathogenicrs199470470GRCh37Chr 10, 76788351: 76788354
5KAT6BNM_ 012330.3(KAT6B): c.3892G> T (p.Gly1298Ter)SNVPathogenicrs199470475GRCh37Chr 10, 76788474: 76788474
6KAT6BNM_ 012330.3(KAT6B): c.3802G> T (p.Gly1268Ter)SNVPathogenicrs199470473GRCh37Chr 10, 76788384: 76788384

Expression for genes affiliated with Genitopatellar Syndrome

About this section
Search GEO for disease gene expression data for Genitopatellar Syndrome.

Pathways for genes affiliated with Genitopatellar Syndrome

About this section

GO Terms for genes affiliated with Genitopatellar Syndrome

About this section

Sources for Genitopatellar Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet