MCID: GNT031
MIFTS: 41

Genitopatellar Syndrome

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

Aliases & Classifications for Genitopatellar Syndrome

MalaCards integrated aliases for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 57 53 25 59 75 37 29 13 55 6 40 73
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 57 53 25
Gtpts 57 53 75
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 53 59
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 75
Gps 25

Characteristics:

Orphanet epidemiological data:

59
genitopatellar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32

Classifications:



Summaries for Genitopatellar Syndrome

NIH Rare Diseases : 53 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..

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. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart, kidney and brain, and related phenotypes are hypertelorism and low-set ears

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 : 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). The SBBYS variant of Ohdo syndrome (603736) is an allelic disorder with overlapping features. (606170)

UniProtKB/Swiss-Prot : 75 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 : 76 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:

(showing 158, show less)
# 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 10.1
11 blepharophimosis intellectual disability syndromes 10.1
12 thrombasthenia 10.1
13 lymphoma 10.0
14 breast cancer 10.0
15 colorectal cancer 10.0
16 lung cancer 10.0
17 kat6b-related disorders 10.0
18 gastric cancer 9.9
19 small cell cancer of the lung 9.9
20 depression 9.9
21 hepatocellular carcinoma 9.9
22 acute leukemia 9.9
23 melanoma 9.9
24 thrombocytopenia 9.8
25 adenocarcinoma 9.8
26 cleft palate, isolated 9.8
27 osteoporosis 9.8
28 ohdo syndrome 9.8
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
30 sensorineural hearing loss 9.8
31 absent patella 9.8
32 ohdo syndrome, say-barber-biesecker-young-simpson variant 9.8
33 asthma 9.8
34 leukemia, acute lymphoblastic 9.8
35 lymphoblastic leukemia 9.8
36 purpura 9.8
37 oral cancer 9.8
38 endotheliitis 9.8
39 arteries, anomalies of 9.7
40 rheumatoid arthritis 9.7
41 myeloma, multiple 9.7
42 neuroblastoma 9.7
43 pancreatic cancer 9.7
44 ovarian cancer 1 9.7
45 myocardial infarction 9.7
46 human immunodeficiency virus type 1 9.7
47 acute promyelocytic leukemia 9.7
48 arthritis 9.7
49 coronary artery anomaly 9.7
50 osteoarthritis 9.7
51 tonsillitis 9.7
52 dementia 9.7
53 hypothyroidism 9.7
54 gingivitis 9.7
55 pancreatitis 9.7
56 conjunctivitis 9.7
57 otitis externa 9.7
58 irritable bowel syndrome 9.7
59 hypoxia 9.7
60 alzheimer disease 9.5
61 amyotrophic lateral sclerosis 1 9.5
62 apnea, obstructive sleep 9.5
63 diabetes mellitus, noninsulin-dependent 9.5
64 renal cell carcinoma, nonpapillary 9.5
65 obsessive-compulsive disorder 9.5
66 ovarian cancer 9.5
67 prostate cancer 9.5
68 velocardiofacial syndrome 9.5
69 adrenocortical carcinoma, hereditary 9.5
70 celiac disease 1 9.5
71 cystic fibrosis 9.5
72 lymphoma, hodgkin, classic 9.5
73 sudden infant death syndrome 9.5
74 aging 9.5
75 lymphoma, non-hodgkin, familial 9.5
76 allergic rhinitis 9.5
77 coronary heart disease 1 9.5
78 anxiety 9.5
79 diabetes mellitus, ketosis-prone 9.5
80 lung cancer susceptibility 3 9.5
81 microvascular complications of diabetes 5 9.5
82 membranous nephropathy 9.5
83 peripheral vascular disease 9.5
84 chronic kidney failure 9.5
85 critical limb ischemia 9.5
86 diabetes mellitus 9.5
87 glomerulonephritis 9.5
88 hepatitis 9.5
89 liver disease 9.5
90 lymphoid leukemia 9.5
91 primary ciliary dyskinesia 9.5
92 thalassemia 9.5
93 taeniasis 9.5
94 sleep apnea 9.5
95 limb ischemia 9.5
96 atrial fibrillation 9.5
97 thrombosis 9.5
98 pelvic inflammatory disease 9.5
99 cysticercosis 9.5
100 tuberculoid leprosy 9.5
101 discharging ear 9.5
102 giardiasis 9.5
103 sarcoma 9.5
104 chlamydia 9.5
105 heart disease 9.5
106 coronary thrombosis 9.5
107 esophagitis 9.5
108 pathological gambling 9.5
109 von willebrand's disease 9.5
110 acoustic neuroma 9.5
111 gout 9.5
112 inclusion conjunctivitis 9.5
113 prostatitis 9.5
114 personality disorder 9.5
115 squamous cell carcinoma 9.5
116 vascular disease 9.5
117 epilepsy 9.5
118 impotence 9.5
119 neuroma 9.5
120 constipation 9.5
121 vaginitis 9.5
122 blood platelet disease 9.5
123 pharyngitis 9.5
124 lateral sclerosis 9.5
125 colon adenocarcinoma 9.5
126 newcastle disease 9.5
127 astrocytoma 9.5
128 myelitis 9.5
129 ischemia 9.5
130 fibrosarcoma 9.5
131 periodontal disease 9.5
132 gastric adenocarcinoma 9.5
133 vaginal discharge 9.5
134 lynch syndrome 9.5
135 adrenal cortical adenocarcinoma 9.5
136 rhinitis 9.5
137 urinary tract obstruction 9.5
138 pneumonia 9.5
139 kidney disease 9.5
140 periodontitis 9.5
141 scabies 9.5
142 chronic fatigue syndrome 9.5
143 measles 9.5
144 lymphosarcoma 9.5
145 psoriasis 9.5
146 learning disability 9.5
147 epididymitis 9.5
148 fatty liver disease 9.5
149 lassa fever 9.5
150 glioblastoma 9.5
151 meningococcal infection 9.5
152 soft tissue sarcoma 9.5
153 glucose phosphate isomerase deficiency 9.5
154 chronic pain 9.5
155 head injury 9.5
156 headache 9.5
157 pituitary tumors 9.5
158 meier-gorlin syndrome 1 9.2 KAT6B LMX1B

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:

57
Neurologic Central Nervous System:
agenesis of corpus callosum
colpocephaly
hypotonia
psychomotor retardation, severe
periventricular neuronal heterotopia

Respiratory Larynx:
laryngomalacia

GenitourinaryInternal GenitaliaMale:
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 Gastrointestinal:
swallowing difficulties
anteriorly positioned anus

Genitourinary:
hypoplastic perineum


Clinical features from OMIM:

606170

Human phenotypes related to Genitopatellar Syndrome:

59 32 (showing 55, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
10 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
11 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
12 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
13 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
14 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
15 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
16 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
17 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
18 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
19 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
20 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
21 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
22 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
23 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
24 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
25 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
26 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
27 radioulnar synostosis 59 32 very rare (1%) Occasional (29-5%) HP:0002974
28 hip contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0003273
29 hydronephrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000126
30 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
31 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
32 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
33 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
34 hypoplastic ischia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003175
35 patellar aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006443
36 knee flexion contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0006380
37 hypoplastic ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000946
38 clitoral hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008665
39 muscular hypotonia 32 HP:0001252
40 dysphagia 32 HP:0002015
41 laryngomalacia 32 HP:0001601
42 intellectual disability, progressive 32 HP:0006887
43 downslanted palpebral fissures 32 HP:0000494
44 brachydactyly 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
51 generalized hypotonia 32 HP:0001290
52 periventricular gray matter heterotopia 32 HP:0007165
53 colpocephaly 32 HP:0030048
54 enlarged labia minora 32 HP:0008683
55 hypoplastic inferior pubic rami 32 HP:0008823

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:

41
Heart, Kidney, Brain, Testes, Thyroid, Bone

Publications for Genitopatellar Syndrome

Articles related to Genitopatellar Syndrome:

(showing 21, show less)
# Title Authors Year
1
Genitopatellar syndrome: the first reported case in Japan. ( 29899993 )
2018
2
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
3
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. ( 28426343 )
2017
4
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting? ( 28857140 )
2017
5
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. ( 27452416 )
2016
6
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
7
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. ( 22568963 )
2013
8
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. ( 22265017 )
2012
9
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. ( 22265014 )
2012
10
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. ( 22715153 )
2012
11
Another case of genitopatellar syndrome: a case report with additional rare coexistences. ( 22922314 )
2012
12
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. ( 20182757 )
2011
13
Genitopatellar syndrome: a further case. ( 21412151 )
2011
14
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. ( 19500117 )
2009
15
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. ( 19208376 )
2009
16
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
17
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. ( 16761293 )
2006
18
Genitopatellar syndrome: expanding the phenotype. ( 12949978 )
2003
19
Genitopatellar syndrome: delineating the anomalies of female genitalia. ( 12210330 )
2002
20
Genitopatellar syndrome: a recognizable phenotype. ( 12210329 )
2002
21
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
(showing 22, show less)
# 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.3769_3772delTCTA (p.Lys1258Glyfs) deletion Pathogenic rs199470470 GRCh38 Chromosome 10, 75028593: 75028596
3 KAT6B NM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter) single nucleotide variant Pathogenic rs199470475 GRCh37 Chromosome 10, 76788474: 76788474
4 KAT6B NM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter) single nucleotide variant Pathogenic rs199470475 GRCh38 Chromosome 10, 75028716: 75028716
5 KAT6B NM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter) single nucleotide variant Pathogenic rs199470473 GRCh37 Chromosome 10, 76788384: 76788384
6 KAT6B NM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter) single nucleotide variant Pathogenic rs199470473 GRCh38 Chromosome 10, 75028626: 75028626
7 KAT6B NM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs) deletion Pathogenic rs199470477 GRCh37 Chromosome 10, 76788787: 76788788
8 KAT6B NM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs) deletion Pathogenic rs199470477 GRCh38 Chromosome 10, 75029029: 75029030
9 KAT6B NM_012330.3(KAT6B): c.3681_3696del16 (p.Asp1227Glufs) deletion Pathogenic rs199470469 GRCh37 Chromosome 10, 76788263: 76788278
10 KAT6B NM_012330.3(KAT6B): c.3681_3696del16 (p.Asp1227Glufs) deletion Pathogenic rs199470469 GRCh38 Chromosome 10, 75028505: 75028520
11 KAT6B NM_012330.3(KAT6B): c.3788_3789delAA (p.Lys1263Argfs) deletion Pathogenic rs199470472 GRCh37 Chromosome 10, 76788370: 76788371
12 KAT6B NM_012330.3(KAT6B): c.3788_3789delAA (p.Lys1263Argfs) deletion Pathogenic rs199470472 GRCh38 Chromosome 10, 75028612: 75028613
13 KAT6B NM_012330.3(KAT6B): c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs) indel Pathogenic rs199470478 GRCh37 Chromosome 10, 76788942: 76788950
14 KAT6B NM_012330.3(KAT6B): c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs) indel Pathogenic rs199470478 GRCh38 Chromosome 10, 75029184: 75029192
15 KAT6B NM_012330.3(KAT6B): c.3310_3312delGAA (p.Glu1104del) deletion Benign/Likely benign rs71929101 GRCh37 Chromosome 10, 76781927: 76781929
16 KAT6B NM_012330.3(KAT6B): c.3310_3312delGAA (p.Glu1104del) deletion Benign/Likely benign rs71929101 GRCh38 Chromosome 10, 75022169: 75022171
17 KAT6B NM_012330.3(KAT6B): c.3231_3242delCGAGGAGGAGGA (p.Asp1077_Glu1080del) deletion Conflicting interpretations of pathogenicity rs886038589 GRCh38 Chromosome 10, 75022090: 75022101
18 KAT6B NM_012330.3(KAT6B): c.3231_3242delCGAGGAGGAGGA (p.Asp1077_Glu1080del) deletion Conflicting interpretations of pathogenicity rs886038589 GRCh37 Chromosome 10, 76781848: 76781859
19 KAT6B NM_012330.3(KAT6B): c.3252_3263delGGAAGAAGAGGA (p.Glu1086_Glu1089del) deletion Benign rs201769534 GRCh38 Chromosome 10, 75022111: 75022122
20 KAT6B NM_012330.3(KAT6B): c.3252_3263delGGAAGAAGAGGA (p.Glu1086_Glu1089del) deletion Benign rs201769534 GRCh37 Chromosome 10, 76781869: 76781880
21 KAT6B NM_012330.3(KAT6B): c.4097_4105dupAAGAGGAAG (p.Glu1368_Gly1369insGluGluGlu) duplication Benign/Likely benign rs375513122 GRCh37 Chromosome 10, 76788679: 76788687
22 KAT6B NM_012330.3(KAT6B): c.4097_4105dupAAGAGGAAG (p.Glu1368_Gly1369insGluGluGlu) duplication Benign/Likely benign rs375513122 GRCh38 Chromosome 10, 75028921: 75028929

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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