MCID: GNT031
MIFTS: 37

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 49 11 45 22 23 47 51 67 24 65
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 Syndrome 51
 
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 67
Gray Platelet Syndrome 65
Gps 23

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
genitopatellar syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 606170
Orphanet51 85201
ICD10 via Orphanet28 Q87.8
MedGen34 C1853566
MeSH36 D000015
UMLS65 C1853566, C0272302

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 gray platelet syndrome and glanzmann thrombasthenia, and has symptoms including cognitive impairment, patellar aplasia and abnormal nasal morphology. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include kidney, testes and bone.

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

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

Anatomical Context for Genitopatellar Syndrome

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MalaCards organs/tissues related to Genitopatellar Syndrome:

33
Kidney, Testes, Bone, Lung, Liver, Pituitary

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

Publications for Genitopatellar Syndrome

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Articles related to Genitopatellar Syndrome:

(show all 15)
idTitleAuthorsYear
1
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. (25907158)
2015
2
Rifaximin in the treatment of irritable bowel syndrome: is there a high risk for development of antimicrobial resistance? (23340064)
2013
3
Dumbbell-shaped primitive neuroectodermal tumor mimicking trigeminal schwannoma: a case report and review of literature. (23546917)
2013
4
Mechanisms of proteasome inhibitor-induced cytotoxicity in malignant glioma. (23733249)
2013
5
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
6
Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in alpha-1-antitrypsin deficiency. (18617899)
2009
7
Effect of D-penicillamine on liver fibrosis and inflammation in Wilson disease. (19338486)
2008
8
Attenuating mutations in the P/C gene of human parainfluenza virus type 1 (HPIV1) vaccine candidates abrogate the inhibition of both induction and signaling of type I interferon (IFN) by wild-type HPIV1. (16750233)
2006
9
NKT cells from normal and tumor-bearing human livers are phenotypically and functionally distinct from murine NKT cells. (12902477)
2003
10
A strategy for mapping and neutralizing conformational immunogenic sites on protein therapeutics. (11921443)
2002
11
Blood concentrations of tumor necrosis factor-alpha in malignant lymphomas and their decrease as a predictor of disease control in response to low-dose subcutaneous immunotherapy with interleukin-2. (10569139)
1999
12
Kernicterus in a full-term infant: the need for increased vigilance. (7794367)
1995
13
Characterization of the GABA-induced current in frog pituitary melanotrophs. (8025567)
1994
14
National surveillance for Reye syndrome, 1981: update, Reye syndrome and salicylate usage. (6799770)
1982
15
A placebo-controlled trial of imipramine in nonspecific vasomotor rhinitis. (4561390)
1972

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