MCID: GNT031
MIFTS: 42

Genitopatellar Syndrome malady

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

Aliases & Classifications for Genitopatellar Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 49 11 45 22 23 47 51 24 65 67
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 45 23
Gtpts 45 67
Absent Patellae - Scrotal Hypoplasia - Renal Anomalies - Facial Dysmorphism - Intellectual Disability 51
 
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 67
Gray Platelet Syndrome 65
Gps 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
genitopatellar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 606170
Orphanet51 85201
ICD10 via Orphanet28 Q87.8
MedGen34 C1853566
MeSH36 D000015

Summaries for Genitopatellar Syndrome

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OMIM:49 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). Affiliated tissues include kidney, testes and lung, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:23 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:67 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:68 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:

 51 (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 70)
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 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 brachydactyly syndrome HP:0001156
46 muscular hypotonia HP:0001252
47 global developmental delay HP:0001263
48 agenesis of corpus callosum HP:0001274
49 congenital hip dislocation HP:0001374
50 polyhydramnios HP:0001561
51 laryngomalacia HP:0001601
52 ventricular septal defect HP:0001629
53 atria septal defect HP:0001631
54 talipes equinovarus HP:0001762
55 dysphagia HP:0002015
56 pulmonary hypoplasia HP:0002089
57 sparse scalp hair HP:0002209
58 radioulnar synostosis HP:0002974
59 patellar dislocation HP:0002999
60 hypoplastic ischia HP:0003175
61 hip contracture HP:0003273
62 knee flexion contracture HP:0006380
63 patellar aplasia HP:0006443
64 intellectual disability, progressive HP:0006887
65 periventricular gray matter heterotopia HP:0007165
66 clitoral hypertrophy HP:0008665
67 hypertrophic labia minora HP:0008694
68 hypoplastic inferior pubic rami HP:0008823
69 short phalanx of finger HP:0009803
70 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 Syndrome22 24

Anatomical Context for Genitopatellar Syndrome

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MalaCards organs/tissues related to Genitopatellar Syndrome:

33
Kidney, Testes, Lung, Bone

Animal Models for Genitopatellar Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Genitopatellar Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1KAT6B, LMX1B
2MP:00053828.8KAT6B, LMX1B

Publications for Genitopatellar Syndrome

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Articles related to Genitopatellar Syndrome:

(show all 14)
idTitleAuthorsYear
1
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. (22568963)
2013
2
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. (22265017)
2012
3
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (22715153)
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
Genitopatellar syndrome: a further case. (21412151)
2011
7
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. (20182757)
2011
8
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. (19208376)
2009
9
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. (19500117)
2009
10
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
11
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. (16761293)
2006
12
Genitopatellar syndrome: expanding the phenotype. (12949978)
2003
13
Genitopatellar syndrome: a recognizable phenotype. (12210329)
2002
14
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
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)single nucleotide variantPathogenicrs199470475GRCh37Chr 10, 76788474: 76788474
6KAT6BNM_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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Sources for Genitopatellar Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet