Genitopatellar Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Genitopatellar Syndrome

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60UMLS, 45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 26ICD10 via Orphanet
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Genitopatellar Syndrome, Aliases & Descriptions:

Name: Genitopatellar Syndrome 45 10 41 20 21 43 47 22 60
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 41 21
Absent Patellae - Scrotal Hypoplasia - Renal Anomalies - Facial Dysmorphism - Intellectual Disability 47
Gray Platelet Syndrome 60
Gtpts 41
Gps 21


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM45 606170
Orphanet47 85201
ICD10 via Orphanet26 Q87.8

Summaries for Genitopatellar Syndrome

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OMIM:45 Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and... (606170) more...

MalaCards based summary: Genitopatellar Syndrome, also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, is related to leukemia and thrombasthenia, and has symptoms including cryptorchidism, scrotal hypoplasia and abnormality of female external genitalia. An important gene associated with Genitopatellar Syndrome is KAT6B (K(lysine) acetyltransferase 6B). The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and lung, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:21 Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.

Wikipedia:63 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:



 47 (show all 35)
  • microcephaly
  • long/large/bulbous nose
  • broad nose/nasal bridge
  • high nasal bridge
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • arthrogryposis
  • short hand/brachydactyly
  • patella absent/abnormal (excluding luxation)
  • polycystic kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • hypertelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • long philtrum
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • low set ears/posteriorly rotated ears
  • talipes-valgus
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hearing loss/hypoacusia/deafness
  • radioulnar synostosis
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • apnea/sleep apnea
  • atrial septal defect/interauricular communication
  • insterstitial/subtelomeric microdeletion/deletion
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Genitopatellar Syndrome:

(show all 69)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 scrotal hypoplasia hallmark (90%) HP:0000046
3 abnormality of female external genitalia hallmark (90%) HP:0000055
4 polycystic kidney dysplasia hallmark (90%) HP:0000113
5 microcephaly hallmark (90%) HP:0000252
6 prominent nasal bridge hallmark (90%) HP:0000426
7 brachydactyly syndrome hallmark (90%) HP:0001156
8 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
9 arthrogryposis multiplex congenita hallmark (90%) HP:0002804
10 abnormal nasal morphology hallmark (90%) HP:0005105
11 patellar aplasia hallmark (90%) HP:0006443
12 cognitive impairment hallmark (90%) HP:0100543
13 hypertelorism typical (50%) HP:0000316
14 long philtrum typical (50%) HP:0000343
15 micrognathia typical (50%) HP:0000347
16 low-set, posteriorly rotated ears typical (50%) HP:0000368
17 delayed eruption of teeth typical (50%) HP:0000684
18 seizures typical (50%) HP:0001250
19 talipes typical (50%) HP:0001883
20 neurological speech impairment typical (50%) HP:0002167
21 fine hair typical (50%) HP:0002213
22 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
23 abnormal hair quantity typical (50%) HP:0011362
24 hearing impairment occasional (7.5%) HP:0000365
25 defect in the atrial septum occasional (7.5%) HP:0001631
26 apnea occasional (7.5%) HP:0002104
27 radioulnar synostosis occasional (7.5%) HP:0002974
28 short stature occasional (7.5%) HP:0004322
29 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
30 multicystic kidney dysplasia HP:0000003
31 autosomal recessive inheritance HP:0000007
32 cryptorchidism HP:0000028
33 scrotal hypoplasia HP:0000046
34 micropenis HP:0000054
35 hydronephrosis HP:0000126
36 microcephaly HP:0000252
37 coarse facial features HP:0000280
38 micrognathia HP:0000347
39 hearing impairment HP:0000365
40 prominent nasal bridge HP:0000426
41 wide nose HP:0000445
42 prominent nose HP:0000448
43 downslanted palpebral fissures HP:0000494
44 delayed eruption of teeth HP:0000684
45 muscular hypotonia HP:0001252
46 global developmental delay HP:0001263
47 agenesis of corpus callosum HP:0001274
48 congenital hip dislocation HP:0001374
49 polyhydramnios HP:0001561
50 laryngomalacia HP:0001601
51 ventricular septal defect HP:0001629
52 defect in the atrial septum HP:0001631
53 talipes equinovarus HP:0001762
54 dysphagia HP:0002015
55 pulmonary hypoplasia HP:0002089
56 sparse scalp hair HP:0002209
57 radioulnar synostosis HP:0002974
58 patellar dislocation HP:0002999
59 hypoplastic ischia HP:0003175
60 hip contracture HP:0003273
61 knee flexion contracture HP:0006380
62 patellar aplasia HP:0006443
63 intellectual disability, progressive HP:0006887
64 periventricular gray matter heterotopia HP:0007165
65 clitoral hypertrophy HP:0008665
66 hypertrophic labia minora HP:0008694
67 hypoplastic inferior pubic rami HP:0008823
68 short phalanx of finger HP:0009803
69 colpocephaly HP:0030048

Drugs & Therapeutics for Genitopatellar Syndrome

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Drug clinical trials:

Search ClinicalTrials for Genitopatellar Syndrome

Search 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 Syndrome20 22

Anatomical Context for Genitopatellar Syndrome

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MalaCards organs/tissues related to Genitopatellar Syndrome:

Kidney, Bone, Lung, Testes

Animal Models for Genitopatellar Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Genitopatellar Syndrome:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2LMX1B, KAT6B
2MP:00053829.1LMX1B, KAT6B
3MP:00053909.1LMX1B, KAT6B
4MP:00053919.0KAT6B, LMX1B
5MP:00053698.8LMX1B, KAT6B

Publications for Genitopatellar Syndrome

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Articles related to Genitopatellar Syndrome:

(show all 15)
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)
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (22715153)
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (22265014)
Another case of genitopatellar syndrome: a case report with additional rare coexistences. (22922314)
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:

id Gene Variation Type Significance SNP ID Assembly Location
1KAT6BKAT6B, DEL/INS, NT4360indelPathogenic
2KAT6BNM_012330.3(KAT6B): c.3769_3772delTCTA (p.Lys1258Glyfs)deletionPathogenicrs199470470GRCh37Chr 10, 76788351: 76788354
3KAT6BKAT6B, 2-BP DEL, 3788AAdeletionPathogenic
4KAT6BNM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter)single nucleotide variantPathogenicrs199470475GRCh37Chr 10, 76788474: 76788474
5KAT6BNM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter)single nucleotide variantPathogenicrs199470473GRCh37Chr 10, 76788384: 76788384
6KAT6BKAT6B, 4-BP DEL, NT1227deletionPathogenic

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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Compounds for genes affiliated with Genitopatellar Syndrome

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43Novoseek, 24HMDB
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Compounds related to Genitopatellar Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1zinc43 2410.1LMX1B, KAT6B

GO Terms for genes affiliated with Genitopatellar Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-templatedGO:00063519.1LMX1B, KAT6B
2regulation of transcription, DNA-templatedGO:00063558.8LMX1B, KAT6B

Molecular functions related to Genitopatellar Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1zinc ion bindingGO:00082709.1LMX1B, KAT6B

Products for genes affiliated with Genitopatellar Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Genitopatellar Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet