MCID: GNT031
MIFTS: 43

Genitopatellar Syndrome

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

Aliases & Classifications for Genitopatellar Syndrome

MalaCards integrated aliases for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 53 49 24 55 71 36 28 13 51 69
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 53 49 24
Gtpts 53 49 71
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 49 55
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 71
Gps 24

Characteristics:

Orphanet epidemiological data:

55
genitopatellar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31

Classifications:



Summaries for Genitopatellar Syndrome

NIH Rare Diseases : 49 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, and mental retardation, 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 brain, and related phenotypes are Decreased shRNA abundance and Decreased shRNA abundance

OMIM : 53 Genitopatellar syndrome is 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 (summary by Penttinen et al., 2009). The SBBYS variant of Ohdo syndrome (603736) is an allelic disorder with overlapping features. (606170)

UniProtKB/Swiss-Prot : 71 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 : 24 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.

Wikipedia : 72 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Related Diseases for Genitopatellar Syndrome

Diseases related to Genitopatellar Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 gray platelet syndrome 12.1
2 glanzmann thrombasthenia 11.4
3 bernard-soulier syndrome 11.4
4 ohdo syndrome, sbbys variant 11.3
5 bleeding disorder, platelet-type, 11 11.2
6 bleeding disorder, platelet-type, 9 11.0
7 pseudo-von willebrand disease 11.0
8 goodpasture syndrome 10.9
9 gastroparesis 10.9
10 leukemia 10.2
11 thrombasthenia 10.1
12 lymphoma 10.0
13 kat6b-related disorders 10.0
14 absent patella 10.0
15 gastric cancer 9.9
16 acute leukemia 9.9
17 blood group, i system 9.8
18 hepatocellular carcinoma 9.8
19 thrombocytopenia 9.8
20 adenocarcinoma 9.8
21 cleft palate, isolated 9.8
22 osteoporosis 9.8
23 ohdo syndrome 9.8
24 bone mineral density quantitative trait locus 8 9.8
25 bone mineral density quantitative trait locus 15 9.8
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
27 sensorineural hearing loss 9.8
28 ohdo syndrome, say-barber-biesecker-young-simpson variant 9.8
29 colorectal cancer 9.8
30 small cell cancer of the lung 9.8
31 lung cancer 9.8
32 lymphoblastic leukemia 9.8
33 purpura 9.8
34 oral cancer 9.8
35 endotheliitis 9.8
36 neuroblastoma 9.7
37 pancreatic cancer 9.7
38 body mass index quantitative trait locus 11 9.7
39 body mass index quantitative trait locus 9 9.7
40 body mass index quantitative trait locus 8 9.7
41 osteoarthritis with mild chondrodysplasia 9.7
42 body mass index quantitative trait locus 4 9.7
43 body mass index quantitative trait locus 10 9.7
44 body mass index quantitative trait locus 7 9.7
45 myocardial infarction 9.7
46 human immunodeficiency virus type 1 9.7
47 body mass index quantitative trait locus 12 9.7
48 acute promyelocytic leukemia 9.7
49 body mass index quantitative trait locus 14 9.7
50 body mass index quantitative trait locus 18 9.7

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



Diseases related to Genitopatellar Syndrome

Symptoms & Phenotypes for Genitopatellar Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
agenesis of corpus callosum
colpocephaly
hypotonia
psychomotor retardation, severe
periventricular neuronal heterotopia

Respiratory Larynx:
laryngomalacia

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
short phalanges

Skin Nails Hair Hair:
sparse scalp hair

Genitourinary External Genitalia Male:
micropenis
hypoplasic scrotum

Skeletal Pelvis:
hypoplastic ischia
congenital hip dislocation
hip contractures
hip flexion deformities
hypoplastic inferior pubic rami

Head And Neck Ears:
hearing loss

Head And Neck Teeth:
delayed tooth eruption

Skeletal Feet:
club feet

Skeletal Limbs:
absent patellae
limb contractures
knee flexion deformities
dislocated patellae
radioulnar synostosis (reported in 1 patient)

Skin Nails Hair Skin:
dimple overlying knee

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
coarse facies

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Kidneys:
hydronephrosis
multicystic kidneys

Respiratory Lung:
pulmonary hypoplasia

Genitourinary External Genitalia Female:
clitoral hypertrophy
labia minora hypertrophy

Head And Neck Eyes:
downslanting palpebral fissures

Head And Neck Nose:
broad nose
high nasal bridge
large nose

Abdomen Gastroin testinal:
swallowing difficulties
anteriorly positioned anus

Genitourinary:
hypoplastic perineum


Clinical features from OMIM:

606170

Human phenotypes related to Genitopatellar Syndrome:

55 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 55 31 frequent (33%) Frequent (79-30%) HP:0000369
4 agenesis of corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001274
5 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
6 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
7 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
8 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
9 delayed speech and language development 55 31 frequent (33%) Frequent (79-30%) HP:0000750
10 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
11 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
12 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
13 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
14 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
15 feeding difficulties 55 31 occasional (7.5%) Occasional (29-5%) HP:0011968
16 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
17 short palm 55 31 hallmark (90%) Very frequent (99-80%) HP:0004279
18 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
19 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
20 apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002104
21 arthrogryposis multiplex congenita 55 31 hallmark (90%) Very frequent (99-80%) HP:0002804
22 prominent nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000426
23 multicystic kidney dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000003
24 talipes equinovarus 55 31 frequent (33%) Frequent (79-30%) HP:0001762
25 sparse scalp hair 55 31 frequent (33%) Frequent (79-30%) HP:0002209
26 fine hair 55 31 frequent (33%) Frequent (79-30%) HP:0002213
27 radioulnar synostosis 55 31 very rare (1%) Occasional (29-5%) HP:0002974
28 hip contracture 55 31 hallmark (90%) Very frequent (99-80%) HP:0003273
29 hydronephrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000126
30 wide nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000445
31 scrotal hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000046
32 prominent nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000448
33 pulmonary hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002089
34 hypoplastic ischia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003175
35 patellar aplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0006443
36 knee flexion contracture 55 31 hallmark (90%) Very frequent (99-80%) HP:0006380
37 hypoplastic ilia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000946
38 clitoral hypertrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008665
39 dysphagia 31 HP:0002015
40 laryngomalacia 31 HP:0001601
41 intellectual disability, progressive 31 HP:0006887
42 downslanted palpebral fissures 31 HP:0000494
43 brachydactyly 31 HP:0001156
44 polyhydramnios 31 HP:0001561
45 ventricular septal defect 31 HP:0001629
46 patellar dislocation 31 HP:0002999
47 micropenis 31 HP:0000054
48 congenital hip dislocation 31 HP:0001374
49 short phalanx of finger 31 HP:0009803
50 generalized hypotonia 31 HP:0001290

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 KAT6B LMX1B
2 Decreased shRNA abundance GR00251-A-2 9.23 KAT6B LMX1B

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:

# Genetic test Affiliating Genes
1 Genitopatellar Syndrome 28 KAT6B

Anatomical Context for Genitopatellar Syndrome

MalaCards organs/tissues related to Genitopatellar Syndrome:

38
Heart, Kidney, Brain, Testes, Thyroid, Bone

Publications for Genitopatellar Syndrome

Articles related to Genitopatellar Syndrome:

(show all 20)
# Title Authors Year
1
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. ( 29226580 )
2018
2
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting? ( 28857140 )
2017
3
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. ( 28426343 )
2017
4
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
5
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. ( 27452416 )
2016
6
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. ( 22568963 )
2013
7
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. ( 22715153 )
2012
8
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. ( 22265014 )
2012
9
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. ( 22265017 )
2012
10
Another case of genitopatellar syndrome: a case report with additional rare coexistences. ( 22922314 )
2012
11
Genitopatellar syndrome: a further case. ( 21412151 )
2011
12
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. ( 20182757 )
2011
13
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. ( 19208376 )
2009
14
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. ( 19500117 )
2009
15
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
16
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. ( 16761293 )
2006
17
Genitopatellar syndrome: expanding the phenotype. ( 12949978 )
2003
18
Genitopatellar syndrome: delineating the anomalies of female genitalia. ( 12210330 )
2002
19
Genitopatellar syndrome: a recognizable phenotype. ( 12210329 )
2002
20
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
# 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

Biological processes related to Genitopatellar Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.62 KAT6B LMX1B

Sources for Genitopatellar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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