Genitopatellar Syndrome malady

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

Aliases & Classifications for Genitopatellar Syndrome

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Aliases & Descriptions for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 51 47 24 25 53 69 26 12 49 67
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 47 25
Gtpts 47 69
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 53
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 69
Gray Platelet Syndrome 67
Gps 25


Orphanet epidemiological data:

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


genitopatellar syndrome:
Inheritance: autosomal recessive inheritance


External Ids:

OMIM51 606170
Orphanet53 ORPHA85201
ICD10 via Orphanet30 Q87.8
MedGen36 C1853566
MeSH38 D000015

Summaries for Genitopatellar Syndrome

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NIH Rare Diseases:47 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 cryptorchidism, scrotal hypoplasia and abnormality of female external genitalia. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart, kidney and brain.

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

UniProtKB/Swiss-Prot:69 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:70 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Related Diseases for Genitopatellar Syndrome

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

Diseases related to genitopatellar syndrome

Symptoms for Genitopatellar Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Genitopatellar Syndrome:

 63 53 (show all 66)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000028
2 scrotal hypoplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0000046
3 abnormality of female external genitalia63 hallmark (90%) HP:0000055
4 polycystic kidney dysplasia63 hallmark (90%) HP:0000113
5 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
6 prominent nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000426
7 brachydactyly syndrome63 hallmark (90%) HP:0001156
8 abnormality of pelvic girdle bone morphology63 hallmark (90%) HP:0002644
9 arthrogryposis multiplex congenita63 53 hallmark (90%) Very frequent (99-80%) HP:0002804
10 abnormal nasal morphology63 hallmark (90%) HP:0005105
11 patellar aplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0006443
12 cognitive impairment63 hallmark (90%) HP:0100543
13 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
14 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
15 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
16 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
17 delayed eruption of teeth63 53 typical (50%) Frequent (79-30%) HP:0000684
18 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
19 talipes63 typical (50%) HP:0001883
20 neurological speech impairment63 typical (50%) HP:0002167
21 fine hair63 53 typical (50%) Frequent (79-30%) HP:0002213
22 aplasia/hypoplasia of the corpus callosum63 typical (50%) HP:0007370
23 abnormal hair quantity63 typical (50%) HP:0011362
24 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
25 atria septal defect63 occasional (7.5%) HP:0001631
26 apnea63 53 occasional (7.5%) Occasional (29-5%) HP:0002104
27 radioulnar synostosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002974
28 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
29 aplasia/hypoplasia of the lungs63 occasional (7.5%) HP:0006703
30 multicystic kidney dysplasia63 53 Very frequent (99-80%) HP:0000003
31 micropenis63 HP:0000054
32 hydronephrosis63 53 Very frequent (99-80%) HP:0000126
33 coarse facial features63 53 Very frequent (99-80%) HP:0000280
34 wide nose63 53 Very frequent (99-80%) HP:0000445
35 prominent nose63 53 Very frequent (99-80%) HP:0000448
36 downslanted palpebral fissures63 HP:0000494
37 muscular hypotonia63 HP:0001252
38 global developmental delay63 53 Very frequent (99-80%) HP:0001263
39 agenesis of corpus callosum63 53 Frequent (79-30%) HP:0001274
40 congenital hip dislocation63 HP:0001374
41 polyhydramnios63 HP:0001561
42 laryngomalacia63 HP:0001601
43 ventricular septal defect63 HP:0001629
44 talipes equinovarus63 53 Frequent (79-30%) HP:0001762
45 dysphagia63 HP:0002015
46 pulmonary hypoplasia63 53 Occasional (29-5%) HP:0002089
47 sparse scalp hair63 53 Frequent (79-30%) HP:0002209
48 patellar dislocation63 HP:0002999
49 hypoplastic ischia63 53 Very frequent (99-80%) HP:0003175
50 hip contracture63 53 Very frequent (99-80%) HP:0003273
51 knee flexion contracture63 53 Very frequent (99-80%) HP:0006380
52 intellectual disability, progressive63 HP:0006887
53 periventricular gray matter heterotopia63 HP:0007165
54 clitoral hypertrophy63 53 Very frequent (99-80%) HP:0008665
55 obsolete hypertrophic labia minora63 HP:0008694
56 hypoplastic inferior pubic rami63 HP:0008823
57 short phalanx of finger63 HP:0009803
58 colpocephaly63 HP:0030048
59 low-set ears53 Frequent (79-30%)
60 delayed speech and language development53 Frequent (79-30%)
61 hypoplastic ilia53 Very frequent (99-80%)
62 intellectual disability53 Very frequent (99-80%)
63 defect in the atrial septum53 Occasional (29-5%)
64 gastroesophageal reflux53 Occasional (29-5%)
65 short palm53 Very frequent (99-80%)
66 feeding difficulties53 Occasional (29-5%)

Drugs & Therapeutics for Genitopatellar Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Genitopatellar Syndrome

Genetic Tests for Genitopatellar Syndrome

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Genetic tests related to Genitopatellar Syndrome:

id Genetic test Affiliating Genes
1 Genitopatellar Syndrome26 24

Anatomical Context for Genitopatellar Syndrome

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MalaCards organs/tissues related to Genitopatellar Syndrome:

Heart, Kidney, Brain, Testes, Thyroid, Bone, Lung

Animal Models for Genitopatellar Syndrome or affiliated genes

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Publications for Genitopatellar Syndrome

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Articles related to Genitopatellar Syndrome:

(show all 17)
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. (27452416)
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)
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. (22568963)
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. (22265017)
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (22265014)
Another case of genitopatellar syndrome: a case report with additional rare coexistences. (22922314)
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (22715153)
Genitopatellar syndrome: a further case. (21412151)
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. (20182757)
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. (19208376)
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. (19500117)
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)
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. (16761293)
Genitopatellar syndrome: expanding the phenotype. (12949978)
Genitopatellar syndrome: a recognizable phenotype. (12210329)
Genitopatellar syndrome: delineating the anomalies of female genitalia. (12210330)
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. (10882755)

Variations for Genitopatellar Syndrome

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Clinvar genetic disease variations for Genitopatellar Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1KAT6BNM_012330.3(KAT6B): c.3681_3696del16 (p.Asp1227Glufs)deletionPathogenicrs199470469GRCh37Chr 10, 76788263: 76788278
2KAT6BNM_012330.3(KAT6B): c.3788_3789delAA (p.Lys1263Argfs)deletionPathogenicrs199470472GRCh37Chr 10, 76788370: 76788371
3KAT6BNM_012330.3(KAT6B): c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs)indelPathogenicrs199470478GRCh37Chr 10, 76788942: 76788950
4KAT6BNM_012330.3(KAT6B): c.3769_3772delTCTA (p.Lys1258Glyfs)deletionPathogenicrs199470470GRCh37Chr 10, 76788351: 76788354
5KAT6BNM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter)SNVPathogenicrs199470475GRCh37Chr 10, 76788474: 76788474
6KAT6BNM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter)SNVPathogenicrs199470473GRCh37Chr 10, 76788384: 76788384
7NBEAL2NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter)SNVPathogenicrs387907112GRCh37Chr 3, 47038800: 47038800
8NBEAL2NM_015175.2(NBEAL2): c.881C> G (p.Ser294Ter)SNVPathogenicrs372277612GRCh37Chr 3, 47033134: 47033134
9NBEAL2NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro)SNVPathogenicrs387907113GRCh37Chr 3, 47035476: 47035476
10NBEAL2NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val)SNVPathogenicrs387907114GRCh37Chr 3, 47037233: 47037233
11NBEAL2NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu)SNVPathogenicrs387907115GRCh37Chr 3, 47046466: 47046466
12NBEAL2NM_015175.2(NBEAL2): c.1823G> A (p.Trp608Ter)SNVPathogenicrs794726682GRCh38Chr 3, 46995558: 46995558
13NBEAL2NM_015175.2(NBEAL2): c.5413dupG (p.Ala1805Glyfs)duplicationPathogenicrs794726683GRCh37Chr 3, 47044246: 47044246

Expression for genes affiliated with Genitopatellar Syndrome

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Search GEO for disease gene expression data for Genitopatellar Syndrome.

Pathways for genes affiliated with Genitopatellar Syndrome

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GO Terms for genes affiliated with Genitopatellar Syndrome

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Sources for Genitopatellar Syndrome

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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet