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

Aliases & Descriptions for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 54 50 24 25 56 66 29 13 52 69
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 50 56
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 50 25
Gtpts 50 66
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 66
Gps 25

Characteristics:

Orphanet epidemiological data:

56
genitopatellar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32

Classifications:



External Ids:

OMIM 54 606170
Orphanet 56 ORPHA85201
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1853566
MeSH 42 D000015

Summaries for Genitopatellar Syndrome

NIH Rare Diseases : 50 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 seizures, hypertelorism and low-set ears. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart, kidney and testes, and related phenotype is Decreased shRNA abundance.

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

UniProtKB/Swiss-Prot : 66 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.

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

Related Diseases for Genitopatellar Syndrome

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



Diseases related to Genitopatellar Syndrome

Symptoms & Phenotypes for Genitopatellar Syndrome

Symptoms by clinical synopsis from OMIM:

606170

Clinical features from OMIM:

606170

Human phenotypes related to Genitopatellar Syndrome:

56 32 (show top 50) (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 low-set ears 56 32 Frequent (79-30%) HP:0000369
4 agenesis of corpus callosum 56 32 Frequent (79-30%) HP:0001274
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
7 hearing impairment 56 32 Occasional (29-5%) HP:0000365
8 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
9 delayed speech and language development 56 32 Frequent (79-30%) HP:0000750
10 microcephaly 56 32 Very frequent (99-80%) HP:0000252
11 short stature 56 32 Occasional (29-5%) HP:0004322
12 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
13 long philtrum 56 32 Frequent (79-30%) HP:0000343
14 micrognathia 56 32 Frequent (79-30%) HP:0000347
15 feeding difficulties 56 32 Occasional (29-5%) HP:0011968
16 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
17 short palm 56 32 Very frequent (99-80%) HP:0004279
18 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
19 apnea 56 32 Occasional (29-5%) HP:0002104
20 arthrogryposis multiplex congenita 56 32 Very frequent (99-80%) HP:0002804
21 prominent nasal bridge 56 32 Very frequent (99-80%) HP:0000426
22 multicystic kidney dysplasia 56 32 Very frequent (99-80%) HP:0000003
23 talipes equinovarus 56 32 Frequent (79-30%) HP:0001762
24 sparse scalp hair 56 32 Frequent (79-30%) HP:0002209
25 fine hair 56 32 Frequent (79-30%) HP:0002213
26 radioulnar synostosis 56 32 Occasional (29-5%) HP:0002974
27 hip contracture 56 32 Very frequent (99-80%) HP:0003273
28 hydronephrosis 56 32 Very frequent (99-80%) HP:0000126
29 wide nose 56 32 Very frequent (99-80%) HP:0000445
30 scrotal hypoplasia 56 32 Very frequent (99-80%) HP:0000046
31 prominent nose 56 32 Very frequent (99-80%) HP:0000448
32 pulmonary hypoplasia 56 32 Occasional (29-5%) HP:0002089
33 hypoplastic ischia 56 32 Very frequent (99-80%) HP:0003175
34 patellar aplasia 56 32 Very frequent (99-80%) HP:0006443
35 knee flexion contracture 56 32 Very frequent (99-80%) HP:0006380
36 hypoplastic ilia 56 32 Very frequent (99-80%) HP:0000946
37 clitoral hypertrophy 56 32 Very frequent (99-80%) HP:0008665
38 muscular hypotonia 32 HP:0001252
39 dysphagia 32 HP:0002015
40 laryngomalacia 32 HP:0001601
41 atria septal defect 56 Occasional (29-5%)
42 intellectual disability, progressive 32 HP:0006887
43 downslanted palpebral fissures 32 HP:0000494
44 brachydactyly syndrome 32 HP:0001156
45 polyhydramnios 32 HP:0001561
46 ventricular septal defect 32 HP:0001629
47 patellar dislocation 32 HP:0002999
48 micropenis 32 HP:0000054
49 congenital hip dislocation 32 HP:0001374
50 short phalanx of finger 32 HP:0009803

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.4 KAT6B LMX1B NBEAL2
2 Decreased shRNA abundance GR00251-A-2 9.4 KAT6B LMX1B NBEAL2

Drugs & Therapeutics for Genitopatellar Syndrome

Search Clinical Trials , NIH Clinical Center for Genitopatellar Syndrome

Genetic Tests for Genitopatellar Syndrome

Genetic tests related to Genitopatellar Syndrome:

id Genetic test Affiliating Genes
1 Genitopatellar Syndrome 29 24

Anatomical Context for Genitopatellar Syndrome

MalaCards organs/tissues related to Genitopatellar Syndrome:

39
Heart, Kidney, Testes, Thyroid, Brain, Bone

Publications for Genitopatellar Syndrome

Articles related to Genitopatellar Syndrome:

(show all 18)
id Title Authors Year
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

ClinVar genetic disease variations for Genitopatellar Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KAT6B NM_012330.3(KAT6B): c.3769_3772delTCTA (p.Lys1258Glyfs) deletion Pathogenic rs199470470 GRCh37 Chromosome 10, 76788351: 76788354
2 KAT6B NM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter) single nucleotide variant Pathogenic rs199470475 GRCh37 Chromosome 10, 76788474: 76788474
3 KAT6B NM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter) single nucleotide variant Pathogenic rs199470473 GRCh37 Chromosome 10, 76788384: 76788384
4 KAT6B NM_012330.3(KAT6B): c.3681_3696del16 (p.Asp1227Glufs) deletion Pathogenic rs199470469 GRCh37 Chromosome 10, 76788263: 76788278
5 KAT6B NM_012330.3(KAT6B): c.3788_3789delAA (p.Lys1263Argfs) deletion Pathogenic rs199470472 GRCh37 Chromosome 10, 76788370: 76788371
6 KAT6B NM_012330.3(KAT6B): c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs) indel Pathogenic rs199470478 GRCh37 Chromosome 10, 76788942: 76788950

Expression for Genitopatellar Syndrome

Search GEO for disease gene expression data for Genitopatellar Syndrome.

Pathways for Genitopatellar Syndrome

GO Terms for Genitopatellar Syndrome

Sources for Genitopatellar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....