GTPTS
MCID: GNT031
MIFTS: 42

Genitopatellar Syndrome (GTPTS)

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

Aliases & Classifications for Genitopatellar Syndrome

MalaCards integrated aliases for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 57 20 43 58 72 36 29 13 54 6 39 70
Gtpts 57 20 72
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 20 58
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 57 43
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 72
Gps 43

Characteristics:

Orphanet epidemiological data:

58
genitopatellar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
genitopatellar syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Genitopatellar Syndrome

GARD : 20 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 defect s (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..

MalaCards based summary : Genitopatellar Syndrome, also known as gtpts, is related to ohdo syndrome, sbbys variant and kat6b disorders. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart, testes and kidney, and related phenotypes are intellectual disability and coarse facial features

MedlinePlus Genetics : 43 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.The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdevelopment of the scrotum. Affected females can have an enlarged clitoris (clitoromegaly) and small labia.Missing or underdeveloped patellae is the most common skeletal abnormality associated with genitopatellar syndrome. Affected individuals may have additional skeletal problems, including joint deformities (contractures) involving the hips and knees or an inward- and upward-turning foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and pelvis have also been reported.Genitopatellar syndrome is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have an usually small head (microcephaly) and structural brain abnormalities, including underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum).People with genitopatellar syndrome may have distinctive facial features such as prominent cheeks and eyes, a nose with a rounded tip or a broad bridge, an unusually small chin (micrognathia) or a chin that protrudes (prognathism), and a narrowing of the head at the temples. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The condition can also be associated with abnormalities of the heart, kidneys, and teeth.

OMIM® : 57 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). (606170) (Updated 05-Apr-2021)

KEGG : 36 Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital and renal anomalies, congenital flexion deformities of the limbs, distinctive facial features, corpus callosum agenesis, and severe intellectual disability. GPS and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) [DS:H01793] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders. In GPS, the overall clinical picture tends to be more severe than in SBBYSS. Features present only in GPS are contractures, anomalies of the spine, ribs and pelvis, renal cysts, hydronephrosis, and agenesis of the corpus callosum. Thyroid abnormalities have been reported in rare cases.

UniProtKB/Swiss-Prot : 72 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 : 73 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 329)
# Related Disease Score Top Affiliating Genes
1 ohdo syndrome, sbbys variant 31.4 KAT6B DUSP29
2 kat6b disorders 30.2 KAT6B DUSP29
3 kat6b-related multiple congenital anomalies syndrome 30.1 KAT6B DUSP29
4 ohdo syndrome 29.9 KAT6B DUSP29
5 ohdo syndrome, say-barber-biesecker-young-simpson variant 29.6 KAT6B DUSP29
6 cryptorchidism, unilateral or bilateral 29.2 KAT6B DUSP29
7 disease of mental health 29.0 LMX1B KAT6B DUSP29
8 gray platelet syndrome 11.7
9 goodpasture syndrome 10.9
10 dementia 10.4
11 alacrima, achalasia, and mental retardation syndrome 10.2
12 microcephaly 10.2
13 hydronephrosis 10.2
14 urinary tract infection 10.2
15 back pain 10.2
16 coronary heart disease 1 10.2
17 headache 10.2
18 ectodermal dysplasia 10.2
19 asthma 10.1
20 personality disorder 10.1
21 chronic pain 10.1
22 disease by infectious agent 10.1
23 acute cystitis 10.1
24 chronic fatigue syndrome 10.1
25 nail-patella syndrome 10.1
26 synostosis 10.1
27 hypothyroidism 10.1
28 colorectal cancer 10.0
29 ovarian cancer 10.0
30 polykaryocytosis inducer 10.0
31 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
32 microvascular complications of diabetes 5 10.0
33 covid-19 10.0
34 chlamydia 10.0
35 avoidant personality disorder 10.0
36 mental depression 10.0
37 eating disorder 10.0
38 learning disability 10.0
39 pik3ca-related overgrowth syndrome 10.0
40 aging 10.0
41 malaria 10.0
42 seizures, scoliosis, and macrocephaly/microcephaly syndrome 10.0
43 hepatitis c 10.0
44 hepatitis 10.0
45 skin carcinoma 10.0
46 skin disease 10.0
47 skin melanoma 10.0
48 postpartum depression 10.0
49 attention deficit-hyperactivity disorder 9.9
50 otitis media 9.9

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



Diseases related to Genitopatellar Syndrome

Symptoms & Phenotypes for Genitopatellar Syndrome

Human phenotypes related to Genitopatellar Syndrome:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
7 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
8 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
9 hip contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0003273
10 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
11 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
12 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
13 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
14 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
15 knee flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0006380
16 hypoplastic ischia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003175
17 patellar aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006443
18 hypoplastic ilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000946
19 clitoral hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008665
20 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
21 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
22 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
23 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
24 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
25 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
26 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
27 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
28 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
29 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
30 seizure 31 frequent (33%) HP:0001250
31 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
32 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
33 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
34 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
35 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
36 radioulnar synostosis 58 31 very rare (1%) Occasional (29-5%) HP:0002974
37 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
38 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
39 seizures 58 Frequent (79-30%)
40 dysphagia 31 HP:0002015
41 congenital hip dislocation 31 HP:0001374
42 intellectual disability, progressive 31 HP:0006887
43 downslanted palpebral fissures 31 HP:0000494
44 brachydactyly 31 HP:0001156
45 micropenis 31 HP:0000054
46 polyhydramnios 31 HP:0001561
47 laryngomalacia 31 HP:0001601
48 patellar dislocation 31 HP:0002999
49 ventricular septal defect 31 HP:0001629
50 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
colpocephaly
hypotonia
psychomotor retardation, severe
periventricular neuronal heterotopia

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Hands:
brachydactyly
short phalanges

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Respiratory Larynx:
laryngomalacia

Respiratory Lung:
pulmonary hypoplasia

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

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

Genitourinary External Genitalia Male:
micropenis
hypoplasic scrotum

Genitourinary Kidneys:
hydronephrosis
multicystic kidneys

Skin Nails Hair Hair:
sparse scalp hair

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 Gastrointestinal:
swallowing difficulties
anteriorly positioned anus

Genitourinary:
hypoplastic perineum

Clinical features from OMIM®:

606170 (Updated 05-Apr-2021)

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 29 KAT6B

Anatomical Context for Genitopatellar Syndrome

MalaCards organs/tissues related to Genitopatellar Syndrome:

40
Heart, Testes, Kidney

Publications for Genitopatellar Syndrome

Articles related to Genitopatellar Syndrome:

(show all 45)
# Title Authors PMID Year
1
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. 54 61 6 57
16761293 2006
2
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. 61 6 57
22265017 2012
3
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 61 6 57
22265014 2012
4
Genitopatellar syndrome: expanding the phenotype. 61 57 6
12949978 2003
5
Genitopatellar syndrome: delineating the anomalies of female genitalia. 61 6 57
12210330 2002
6
Genitopatellar syndrome: a recognizable phenotype. 57 61 6
12210329 2002
7
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 6 61
32424177 2020
8
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? 61 57
28857140 2019
9
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 6 61
28696035 2017
10
Further delineation of the KAT6B molecular and phenotypic spectrum. 61 6
25424711 2015
11
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 61 57
23436491 2013
12
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 6 61
22715153 2012
13
Genitopatellar syndrome: a further case. 57 61
21412151 2011
14
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. 61 57
20182757 2011
15
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. 57 61
19208376 2009
16
Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature. 61 57
12471209 2002
17
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. 57 61
10882755 2000
18
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. 20 61
27452416 2017
19
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 6
25937001 2015
20
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 6
25473036 2014
21
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 6
22077973 2011
22
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. 61 54
17431898 2007
23
[The KAT6B-related disorders: Burying Say-Barber-Biesecker-Young-Simpson and genitopatellar syndrome]. 61
33478850 2021
24
A further patient with genitopatellar syndrome requiring multidisciplinary management. 61
32496273 2020
25
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. 61
32908725 2020
26
KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders. 61
32391291 2020
27
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup). 61
33311462 2019
28
Attitudes toward genomic tumor profiling tests in Japan: patients, family members, and the public. 61
30631119 2019
29
Genitopatellar Syndrome Secondary to De NovoKAT6B Mutation: The First Genetically Confirmed Case in South Korea. 61
30900427 2019
30
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. 61
30569622 2019
31
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup). 61
31871732 2019
32
Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association. 61
30084242 2018
33
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. 61
29226580 2018
34
Genitopatellar syndrome: the first reported case in Japan. 61
29899993 2018
35
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. 61
27696664 2017
36
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. 61
28426343 2017
37
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 61
26334766 2015
38
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. 61
26370006 2015
39
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. 61
24458743 2014
40
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. 61
22568963 2013
41
KAT6B Disorders 61
23236640 2012
42
Another case of genitopatellar syndrome: a case report with additional rare coexistences. 61
22922314 2012
43
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. 61
19500117 2009
44
Human syndromes with congenital patellar anomalies and the underlying gene defects. 61
16143015 2005
45
Assembly and sealing of tight junctions: possible participation of G-proteins, phospholipase C, protein kinase C and calmodulin. 61
1920385 1991

Variations for Genitopatellar Syndrome

ClinVar genetic disease variations for Genitopatellar Syndrome:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) Indel Pathogenic 140474 rs199470478 GRCh37: 10:76788942-76788950
GRCh38: 10:75029184-75029192
2 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) Deletion Pathogenic 140472 rs199470472 GRCh37: 10:76788369-76788370
GRCh38: 10:75028611-75028612
3 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) SNV Pathogenic 30532 rs199470475 GRCh37: 10:76788474-76788474
GRCh38: 10:75028716-75028716
4 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) SNV Pathogenic 30533 rs199470473 GRCh37: 10:76788384-76788384
GRCh38: 10:75028626-75028626
5 DUSP29 , KAT6B NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) Deletion Pathogenic 140470 rs199470469 GRCh37: 10:76788262-76788277
GRCh38: 10:75028504-75028519
6 KAT6B NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) Deletion Pathogenic 561036 rs1564628365 GRCh37: 10:76784924-76784924
GRCh38: 10:75025166-75025166
7 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5290C>T (p.Gln1764Ter) SNV Pathogenic 567140 rs1564632652 GRCh37: 10:76789872-76789872
GRCh38: 10:75030114-75030114
8 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5502del (p.Pro1833_Tyr1834insTer) Deletion Pathogenic 647581 rs1589846743 GRCh37: 10:76790084-76790084
GRCh38: 10:75030326-75030326
9 KAT6B NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) Deletion Pathogenic 689768 rs1589832003 GRCh37: 10:76784946-76784949
GRCh38: 10:75025188-75025191
10 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4861del (p.Ala1621fs) Deletion Pathogenic 802591 rs1589844592 GRCh37: 10:76789443-76789443
GRCh38: 10:75029685-75029685
11 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4538dup (p.Lys1514fs) Duplication Pathogenic 958812 GRCh37: 10:76789119-76789120
GRCh38: 10:75029361-75029362
12 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) Microsatellite Pathogenic 39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
13 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) Microsatellite Pathogenic 39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
14 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3765_3768TCTA[1] (p.Lys1258fs) Microsatellite Pathogenic 30530 rs199470470 GRCh37: 10:76788351-76788354
GRCh38: 10:75028589-75028592
15 KAT6B NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) SNV Pathogenic 523902 rs1554843815 GRCh37: 10:76781789-76781789
GRCh38: 10:75022031-75022031
16 KAT6B NM_012330.4(KAT6B):c.3428del (p.Ser1143fs) Deletion Pathogenic 1033226 GRCh37: 10:76784771-76784771
GRCh38: 10:75025013-75025013
17 KAT6B NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr) SNV Likely pathogenic 1033225 GRCh37: 10:76735333-76735333
GRCh38: 10:74975575-74975575
18 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) Deletion Likely pathogenic 979052 GRCh37: 10:76788671-76788674
GRCh38: 10:75028913-75028916
19 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly) SNV Likely pathogenic 802592 rs1589844927 GRCh37: 10:76789575-76789575
GRCh38: 10:75029817-75029817
20 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter) SNV Likely pathogenic 802590 rs774508465 GRCh37: 10:76788654-76788654
GRCh38: 10:75028896-75028896
21 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter) SNV Uncertain significance 567203 rs1564633281 GRCh37: 10:76790313-76790313
GRCh38: 10:75030555-75030555
22 KAT6B NM_012330.4(KAT6B):c.2116-9A>G SNV Uncertain significance 625964 rs747646395 GRCh37: 10:76738973-76738973
GRCh38: 10:74979215-74979215
23 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) SNV Uncertain significance 625965 rs745470061 GRCh37: 10:76790531-76790531
GRCh38: 10:75030773-75030773
24 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) SNV Uncertain significance 642582 rs138030591 GRCh37: 10:76788544-76788544
GRCh38: 10:75028786-75028786
25 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser) SNV Uncertain significance 988726 GRCh37: 10:76788250-76788250
GRCh38: 10:75028492-75028492
26 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) SNV Uncertain significance 859762 GRCh37: 10:76788628-76788628
GRCh38: 10:75028870-75028870
27 KAT6B NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp) SNV Uncertain significance 859763 GRCh37: 10:76781875-76781875
GRCh38: 10:75022117-75022117
28 KAT6B NM_012330.4(KAT6B):c.1366A>C (p.Ile456Leu) SNV Uncertain significance 836443 GRCh37: 10:76735461-76735461
GRCh38: 10:74975703-74975703
29 KAT6B NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) SNV Uncertain significance 806517 rs766989154 GRCh37: 10:76735809-76735809
GRCh38: 10:74976051-74976051
30 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val) SNV Uncertain significance 260248 rs199662367 GRCh37: 10:76790331-76790331
GRCh38: 10:75030573-75030573
31 KAT6B NM_012330.4(KAT6B):c.3326C>T (p.Ser1109Phe) SNV Uncertain significance 1011199 GRCh37: 10:76781943-76781943
GRCh38: 10:75022185-75022185
32 KAT6B NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) SNV Uncertain significance 1017130 GRCh37: 10:76780901-76780901
GRCh38: 10:75021143-75021143
33 KAT6B NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) SNV Uncertain significance 1017758 GRCh37: 10:76739019-76739019
GRCh38: 10:74979261-74979261
34 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4420T>G (p.Leu1474Val) SNV Uncertain significance 1021987 GRCh37: 10:76789002-76789002
GRCh38: 10:75029244-75029244
35 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5662C>T (p.Pro1888Ser) SNV Uncertain significance 1023414 GRCh37: 10:76790244-76790244
GRCh38: 10:75030486-75030486
36 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5813C>T (p.Thr1938Ile) SNV Uncertain significance 450875 rs376112744 GRCh37: 10:76790395-76790395
GRCh38: 10:75030637-75030637
37 KAT6B NM_012330.4(KAT6B):c.112A>G (p.Thr38Ala) SNV Uncertain significance 1026356 GRCh37: 10:76602727-76602727
GRCh38: 10:74842969-74842969
38 KAT6B NM_012330.4(KAT6B):c.3289_3291GAA[6] (p.Glu1103_Glu1104del) Microsatellite Uncertain significance 844277 GRCh37: 10:76781906-76781911
GRCh38: 10:75022148-75022153
39 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4053G>C (p.Glu1351Asp) SNV Uncertain significance 850837 GRCh37: 10:76788635-76788635
GRCh38: 10:75028877-75028877
40 KAT6B NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys) SNV Uncertain significance 300861 rs770325540 GRCh37: 10:76735363-76735363
GRCh38: 10:74975605-74975605
41 KAT6B NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) SNV Uncertain significance 300862 rs749428929 GRCh37: 10:76735534-76735534
GRCh38: 10:74975776-74975776
42 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4148A>C (p.Asp1383Ala) SNV Uncertain significance 1033227 GRCh37: 10:76788730-76788730
GRCh38: 10:75028972-75028972
43 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) SNV Uncertain significance 300892 rs140992439 GRCh37: 10:76789416-76789416
GRCh38: 10:75029658-75029658
44 DUSP29 , KAT6B NM_012330.4(KAT6B):c.6037A>G (p.Met2013Val) SNV Uncertain significance 1034642 GRCh37: 10:76790619-76790619
GRCh38: 10:75030861-75030861
45 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) SNV Uncertain significance 623743 rs145158232 GRCh37: 10:76789215-76789215
GRCh38: 10:75029457-75029457
46 KAT6B NM_012330.4(KAT6B):c.1851T>G (p.Ile617Met) SNV Uncertain significance 1040277 GRCh37: 10:76735946-76735946
GRCh38: 10:74976188-74976188
47 KAT6B NM_012330.4(KAT6B):c.1184C>T (p.Ser395Leu) SNV Uncertain significance 1030248 GRCh37: 10:76735279-76735279
GRCh38: 10:74975521-74975521
48 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5809G>T (p.Ala1937Ser) SNV Uncertain significance 300899 rs772444140 GRCh37: 10:76790391-76790391
GRCh38: 10:75030633-75030633
49 KAT6B NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) Deletion Uncertain significance 260236 rs569172957 GRCh37: 10:76781837-76781848
GRCh38: 10:75022079-75022090
50 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4065_4067GGA[4] (p.Glu1368del) Microsatellite Uncertain significance 561618 rs367634881 GRCh37: 10:76788645-76788647
GRCh38: 10:75028887-75028889

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

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