GTPTS
MCID: GNT031
MIFTS: 45

Genitopatellar Syndrome (GTPTS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Genitopatellar Syndrome

MalaCards integrated aliases for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 57 19 42 58 73 28 53 5 38 71 75
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 57 19 42
Gtpts 57 19 73
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 19 58
Gps 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

Classifications:

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


Summaries for Genitopatellar Syndrome

MedlinePlus Genetics: 42 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.

MalaCards based summary: Genitopatellar Syndrome, also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, is related to kat6b-related multiple congenital anomalies syndrome and gray platelet syndrome. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include bone, heart and testes, and related phenotypes are intellectual disability and coarse facial features

GARD: 19 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 changess 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.

Orphanet: 58 Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

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 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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: 75 Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower... 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 459)
# Related Disease Score Top Affiliating Genes
1 kat6b-related multiple congenital anomalies syndrome 30.3 LGI1 KAT6B
2 gray platelet syndrome 11.7
3 ohdo syndrome, sbbys variant 11.1
4 goodpasture syndrome 11.0
5 kat6b disorders 10.4
6 dementia 10.4
7 ohdo syndrome 10.4
8 neurodegeneration with brain iron accumulation 2a 10.3
9 fanconi anemia, complementation group e 10.3
10 orbital disease 10.3
11 corpus callosum, agenesis of 10.3
12 simpson-golabi-behmel syndrome, type 1 10.3
13 alacrima, achalasia, and mental retardation syndrome 10.2
14 microcephaly 10.2
15 hydronephrosis 10.2
16 masa syndrome 10.2
17 pulmonary disease, chronic obstructive 10.2
18 urinary tract infection 10.2
19 back pain 10.2
20 parkinson disease, late-onset 10.2
21 disease of mental health 10.2
22 headache 10.2
23 ectodermal dysplasia 10.2
24 ceroid lipofuscinosis, neuronal, 5 10.2
25 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
26 immunodeficiency, common variable, 10 10.2
27 children's interstitial lung disease 10.2
28 major depressive disorder 10.1
29 sexual health disorder 10.1
30 personality disorder 10.1
31 chronic pain 10.1
32 ataxia with vitamin e deficiency 10.1
33 body mass index quantitative trait locus 11 10.1
34 body mass index quantitative trait locus 9 10.1
35 body mass index quantitative trait locus 8 10.1
36 coronary heart disease 1 10.1
37 body mass index quantitative trait locus 4 10.1
38 body mass index quantitative trait locus 10 10.1
39 body mass index quantitative trait locus 7 10.1
40 body mass index quantitative trait locus 12 10.1
41 body mass index quantitative trait locus 14 10.1
42 body mass index quantitative trait locus 18 10.1
43 body mass index quantitative trait locus 19 10.1
44 body mass index quantitative trait locus 20 10.1
45 nutritional deficiency disease 10.1
46 nail-patella syndrome 10.1
47 synostosis 10.1
48 hypothyroidism 10.1
49 cystic kidney disease 10.1
50 attention deficit-hyperactivity disorder 10.1

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

MGI Mouse Phenotypes related to Genitopatellar Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 KAT6B LGI1 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

Organs/tissues related to Genitopatellar Syndrome:

MalaCards : Bone, Heart, Testes, Kidney, Thyroid, Brain

Publications for Genitopatellar Syndrome

Articles related to Genitopatellar Syndrome:

(show all 46)
# Title Authors PMID Year
1
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. 53 62 57 5
16761293 2006
2
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. 62 57 5
22265017 2012
3
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 62 57 5
22265014 2012
4
Genitopatellar syndrome: expanding the phenotype. 62 57 5
12949978 2003
5
Genitopatellar syndrome: delineating the anomalies of female genitalia. 62 57 5
12210330 2002
6
Genitopatellar syndrome: a recognizable phenotype. 62 57 5
12210329 2002
7
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 62 5
32424177 2020
8
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? 62 57
28857140 2019
9
Further delineation of the KAT6B molecular and phenotypic spectrum. 62 5
25424711 2015
10
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 62 57
23436491 2013
11
Genitopatellar syndrome: a further case. 62 57
21412151 2011
12
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. 62 57
20182757 2011
13
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. 62 57
19208376 2009
14
Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature. 62 57
12471209 2002
15
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. 62 57
10882755 2000
16
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 5
25937001 2015
17
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 5
25473036 2014
18
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 5
22077973 2011
19
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. 53 62
17431898 2007
20
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes. 62
35707592 2022
21
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. 62
34519438 2021
22
[The KAT6B-related disorders: Burying Say-Barber-Biesecker-Young-Simpson and genitopatellar syndrome]. 62
33478850 2021
23
A further patient with genitopatellar syndrome requiring multidisciplinary management. 62
32496273 2020
24
KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders. 62
32391291 2020
25
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. 62
32908725 2020
26
Attitudes toward genomic tumor profiling tests in Japan: patients, family members, and the public. 62
30631119 2019
27
Genitopatellar Syndrome Secondary to De NovoKAT6B Mutation: The First Genetically Confirmed Case in South Korea. 62
30900427 2019
28
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. 62
30569622 2019
29
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup). 62
31871732 2019
30
Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association. 62
30084242 2018
31
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. 62
29226580 2018
32
Genitopatellar syndrome: the first reported case in Japan. 62
29899993 2018
33
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 62
28696035 2017
34
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. 62
27696664 2017
35
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. 62
28426343 2017
36
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. 62
27452416 2017
37
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 62
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. 62
26370006 2015
39
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. 62
24458743 2014
40
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. 62
22568963 2013
41
KAT6B Disorders 62
23236640 2012
42
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 62
22715153 2012
43
Another case of genitopatellar syndrome: a case report with additional rare coexistences. 62
22922314 2012
44
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. 62
19500117 2009
45
Human syndromes with congenital patellar anomalies and the underlying gene defects. 62
16143015 2005
46
Assembly and sealing of tight junctions: possible participation of G-proteins, phospholipase C, protein kinase C and calmodulin. 62
1920385 1991

Variations for Genitopatellar Syndrome

ClinVar genetic disease variations for Genitopatellar Syndrome:

5 (show top 50) (show all 313)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KAT6B NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) INDEL Pathogenic
140474 rs199470478 GRCh37: 10:76788942-76788950
GRCh38: 10:75029184-75029192
2 KAT6B NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) DEL Pathogenic
140472 rs199470472 GRCh37: 10:76788369-76788370
GRCh38: 10:75028611-75028612
3 KAT6B NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) SNV Pathogenic
30532 rs199470475 GRCh37: 10:76788474-76788474
GRCh38: 10:75028716-75028716
4 KAT6B NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) SNV Pathogenic
30533 rs199470473 GRCh37: 10:76788384-76788384
GRCh38: 10:75028626-75028626
5 KAT6B NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) DEL Pathogenic
140470 rs199470469 GRCh37: 10:76788262-76788277
GRCh38: 10:75028504-75028519
6 KAT6B NM_012330.4(KAT6B):c.5502del (p.Pro1833_Tyr1834insTer) DEL Pathogenic
647581 rs1589846743 GRCh37: 10:76790084-76790084
GRCh38: 10:75030326-75030326
7 KAT6B NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) DEL Pathogenic
689768 rs1589832003 GRCh37: 10:76784946-76784949
GRCh38: 10:75025188-75025191
8 KAT6B NM_012330.4(KAT6B):c.4861del (p.Ala1621fs) DEL Pathogenic
802591 rs1589844592 GRCh37: 10:76789443-76789443
GRCh38: 10:75029685-75029685
9 KAT6B NM_012330.4(KAT6B):c.3428del (p.Ser1143fs) DEL Pathogenic
1033226 rs1845712748 GRCh37: 10:76784771-76784771
GRCh38: 10:75025013-75025013
10 LGI1 NM_005097.4(LGI1):c.1442del (p.Pro481fs) DEL Pathogenic
1527920 GRCh37: 10:95557327-95557327
GRCh38: 10:93797570-93797570
11 KAT6B NM_012330.4(KAT6B):c.3665-1G>C SNV Pathogenic
1679292 GRCh37: 10:76788246-76788246
GRCh38: 10:75028488-75028488
12 KAT6B NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) DEL Pathogenic
561036 rs1564628365 GRCh37: 10:76784924-76784924
GRCh38: 10:75025166-75025166
13 KAT6B NM_012330.4(KAT6B):c.5290C>T (p.Gln1764Ter) SNV Pathogenic
567140 rs1564632652 GRCh37: 10:76789872-76789872
GRCh38: 10:75030114-75030114
14 KAT6B NM_012330.4(KAT6B):c.5409del (p.Phe1803fs) DEL Pathogenic
1069369 GRCh37: 10:76789988-76789988
GRCh38: 10:75030230-75030230
15 KAT6B NM_012330.4(KAT6B):c.3987_3988del (p.Ala1331fs) DEL Pathogenic
1070400 GRCh37: 10:76788569-76788570
GRCh38: 10:75028811-75028812
16 KAT6B NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) SNV Pathogenic
Pathogenic
523902 rs1554843815 GRCh37: 10:76781789-76781789
GRCh38: 10:75022031-75022031
17 KAT6B NM_012330.4(KAT6B):c.4538dup (p.Lys1514fs) DUP Pathogenic
958812 rs1846135896 GRCh37: 10:76789119-76789120
GRCh38: 10:75029361-75029362
18 KAT6B NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) MICROSAT Pathogenic
Pathogenic
Pathogenic
39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
19 KAT6B NM_012330.4(KAT6B):c.3995del (p.Pro1332fs) DEL Pathogenic
1065489 GRCh37: 10:76788574-76788574
GRCh38: 10:75028816-75028816
20 KAT6B NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) SNV Pathogenic
50357 rs199470484 GRCh37: 10:76789971-76789971
GRCh38: 10:75030213-75030213
21 KAT6B NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) MICROSAT Pathogenic
30530 rs199470470 GRCh37: 10:76788351-76788354
GRCh38: 10:75028589-75028592
22 KAT6B NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr) SNV Likely Pathogenic
1033225 rs1842099343 GRCh37: 10:76735333-76735333
GRCh38: 10:74975575-74975575
23 KAT6B NM_012330.4(KAT6B):c.4298A>T (p.His1433Leu) SNV Likely Pathogenic
1339562 GRCh37: 10:76788880-76788880
GRCh38: 10:75029122-75029122
24 KAT6B NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) DEL Likely Pathogenic
979052 rs1846092532 GRCh37: 10:76788671-76788674
GRCh38: 10:75028913-75028916
25 KAT6B NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly) SNV Likely Pathogenic
802592 rs1589844927 GRCh37: 10:76789575-76789575
GRCh38: 10:75029817-75029817
26 KAT6B NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter) SNV Likely Pathogenic
802590 rs774508465 GRCh37: 10:76788654-76788654
GRCh38: 10:75028896-75028896
27 KAT6B NM_012330.4(KAT6B):c.3906del (p.Ser1303fs) DEL Likely Pathogenic
1027387 GRCh37: 10:76788485-76788485
GRCh38: 10:75028727-75028727
28 KAT6B NM_012330.4(KAT6B):c.3857del (p.Gln1286fs) DEL Likely Pathogenic
1333668 GRCh37: 10:76788439-76788439
GRCh38: 10:75028681-75028681
29 KAT6B NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs) INSERT Likely Pathogenic
1333964 GRCh37: 10:76781023-76781024
GRCh38: 10:75021265-75021266
30 KAT6B NM_012330.4(KAT6B):c.5360C>T (p.Thr1787Met) SNV Uncertain Significance
1197906 GRCh37: 10:76789942-76789942
GRCh38: 10:75030184-75030184
31 KAT6B NM_012330.4(KAT6B):c.3232G>A (p.Glu1078Lys) SNV Uncertain Significance
1208898 GRCh37: 10:76781849-76781849
GRCh38: 10:75022091-75022091
32 KAT6B NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) SNV Uncertain Significance
1213461 GRCh37: 10:76780900-76780900
GRCh38: 10:75021142-75021142
33 KAT6B NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) SNV Uncertain Significance
1215828 GRCh37: 10:76789017-76789017
GRCh38: 10:75029259-75029259
34 KAT6B NM_012330.4(KAT6B):c.2143G>C (p.Asp715His) SNV Uncertain Significance
1385721 GRCh37: 10:76739009-76739009
GRCh38: 10:74979251-74979251
35 KAT6B NM_012330.4(KAT6B):c.3671T>C (p.Met1224Thr) SNV Uncertain Significance
1378767 GRCh37: 10:76788253-76788253
GRCh38: 10:75028495-75028495
36 KAT6B NM_012330.4(KAT6B):c.5971G>A (p.Ala1991Thr) SNV Uncertain Significance
1376343 GRCh37: 10:76790553-76790553
GRCh38: 10:75030795-75030795
37 KAT6B NM_012330.4(KAT6B):c.4079AAGAGGAAG[5] (p.Glu1363_Glu1368dup) MICROSAT Uncertain Significance
1385810 GRCh37: 10:76788659-76788660
GRCh38: 10:75028901-75028902
38 KAT6B NM_012330.4(KAT6B):c.621+6C>T SNV Uncertain Significance
1378440 GRCh37: 10:76603242-76603242
GRCh38: 10:74843484-74843484
39 KAT6B NM_012330.4(KAT6B):c.1513C>G (p.Pro505Ala) SNV Uncertain Significance
1395568 GRCh37: 10:76735608-76735608
GRCh38: 10:74975850-74975850
40 KAT6B NM_012330.4(KAT6B):c.2373+6C>T SNV Uncertain Significance
1383400 GRCh37: 10:76741692-76741692
GRCh38: 10:74981934-74981934
41 KAT6B NM_012330.4(KAT6B):c.2272A>G (p.Met758Val) SNV Uncertain Significance
1361928 GRCh37: 10:76741585-76741585
GRCh38: 10:74981827-74981827
42 KAT6B NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) MICROSAT Uncertain Significance
1388063 GRCh37: 10:76781905-76781906
GRCh38: 10:75022147-75022148
43 KAT6B NM_012330.4(KAT6B):c.4852A>G (p.Ser1618Gly) SNV Uncertain Significance
1407692 GRCh37: 10:76789434-76789434
GRCh38: 10:75029676-75029676
44 KAT6B NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val) SNV Uncertain Significance
1421016 GRCh37: 10:76744965-76744965
GRCh38: 10:74985207-74985207
45 KAT6B NM_012330.4(KAT6B):c.385A>G (p.Ile129Val) SNV Uncertain Significance
1399696 GRCh37: 10:76603000-76603000
GRCh38: 10:74843242-74843242
46 KAT6B NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) SNV Uncertain Significance
1399774 GRCh37: 10:76735757-76735757
GRCh38: 10:74975999-74975999
47 KAT6B NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu) SNV Uncertain Significance
1393568 GRCh37: 10:76603145-76603145
GRCh38: 10:74843387-74843387
48 KAT6B NM_012330.4(KAT6B):c.86A>T (p.Glu29Val) SNV Uncertain Significance
1363581 GRCh37: 10:76602701-76602701
GRCh38: 10:74842943-74842943
49 KAT6B NM_012330.4(KAT6B):c.5426C>T (p.Pro1809Leu) SNV Uncertain Significance
1366489 GRCh37: 10:76790008-76790008
GRCh38: 10:75030250-75030250
50 KAT6B NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys) SNV Uncertain Significance
1431199 GRCh37: 10:76735812-76735812
GRCh38: 10:74976054-74976054

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....