MCID: GNT031
MIFTS: 41

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 50 46 23 24 52 68 25 12 48 66
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 46 24
Gtpts 46 68
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 52
 
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 68
Gray Platelet Syndrome 66
Gps 24

Characteristics:

Orphanet epidemiological data:

52
genitopatellar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
genitopatellar syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 606170
Orphanet52 ORPHA85201
ICD10 via Orphanet29 Q87.8
MedGen35 C1853566
MeSH37 D000015

Summaries for Genitopatellar Syndrome

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OMIM:50 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 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 bone, kidney and lung.

Genetics Home Reference:24 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.

UniProtKB/Swiss-Prot:68 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:69 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:

606170

Clinical features from OMIM:

606170

Symptoms:

 52 (show all 38)
  • multicystic kidney dysplasia
  • cryptorchidism
  • scrotal hypoplasia
  • hydronephrosis
  • microcephaly
  • coarse facial features
  • hypertelorism
  • long philtrum
  • micrognathia
  • hearing impairment
  • low-set ears
  • prominent nasal bridge
  • wide nose
  • prominent nose
  • delayed eruption of teeth
  • delayed speech and language development
  • hypoplastic ilia
  • intellectual disability
  • seizures
  • global developmental delay
  • agenesis of corpus callosum
  • defect in the atrial septum
  • talipes equinovarus
  • gastroesophageal reflux
  • pulmonary hypoplasia
  • apnea
  • sparse scalp hair
  • fine hair
  • arthrogryposis multiplex congenita
  • radioulnar synostosis
  • hypoplastic ischia
  • hip contracture
  • short palm
  • short stature
  • knee flexion contracture
  • patellar aplasia
  • clitoral hypertrophy
  • feeding difficulties

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 atria septal defect 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 cryptorchidism HP:0000028
32 scrotal hypoplasia HP:0000046
33 micropenis HP:0000054
34 hydronephrosis HP:0000126
35 microcephaly HP:0000252
36 coarse facial features HP:0000280
37 micrognathia HP:0000347
38 hearing impairment HP:0000365
39 prominent nasal bridge HP:0000426
40 wide nose HP:0000445
41 prominent nose HP:0000448
42 downslanted palpebral fissures HP:0000494
43 delayed eruption of teeth HP:0000684
44 brachydactyly syndrome HP:0001156
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 atria septal defect 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 obsolete 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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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 Syndrome25 23

Anatomical Context for Genitopatellar Syndrome

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MalaCards organs/tissues related to Genitopatellar Syndrome:

34
Bone, Kidney, 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 16)
idTitleAuthorsYear
1
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. (27452416)
2016
2
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. (22568963)
2013
3
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. (22265017)
2012
4
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (22265014)
2012
5
Another case of genitopatellar syndrome: a case report with additional rare coexistences. (22922314)
2012
6
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (22715153)
2012
7
Genitopatellar syndrome: a further case. (21412151)
2011
8
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. (20182757)
2011
9
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. (19208376)
2009
10
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. (19500117)
2009
11
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
12
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. (16761293)
2006
13
Genitopatellar syndrome: expanding the phenotype. (12949978)
2003
14
Genitopatellar syndrome: a recognizable phenotype. (12210329)
2002
15
Genitopatellar syndrome: delineating the anomalies of female genitalia. (12210330)
2002
16
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. (10882755)
2000

Variations for Genitopatellar Syndrome

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Clinvar genetic disease variations for Genitopatellar Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_012330.3(KAT6B): c.3681_3696del16 (p.Asp1227Glufs)deletionPathogenicrs199470469GRCh37Chr 10, 76788263: 76788278
2NM_012330.3(KAT6B): c.3788_3789delAA (p.Lys1263Argfs)deletionPathogenicrs199470472GRCh37Chr 10, 76788370: 76788371
3NM_012330.3(KAT6B): c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs)indelPathogenicrs199470478GRCh37Chr 10, 76788942: 76788950
4NM_012330.3(KAT6B): c.3769_3772delTCTA (p.Lys1258Glyfs)deletionPathogenicrs199470470GRCh37Chr 10, 76788351: 76788354
5NM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter)single nucleotide variantPathogenicrs199470475GRCh37Chr 10, 76788474: 76788474
6NM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter)single nucleotide variantPathogenicrs199470473GRCh37Chr 10, 76788384: 76788384

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

idNameGO IDScoreTop Affiliating Genes
1regulation of transcription, DNA-templatedGO:00063559.1KAT6B, LMX1B
2positive regulation of transcription from RNA polymerase II promoterGO:00459448.8KAT6B, LMX1B

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

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

Sources for Genitopatellar Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet