MCID: GNT031
MIFTS: 43

Genitopatellar Syndrome

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

Aliases & Classifications for Genitopatellar Syndrome

MalaCards integrated aliases for Genitopatellar Syndrome:

Name: Genitopatellar Syndrome 54 50 24 25 56 71 29 13 52 69
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome 50 56
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation 50 25
Gtpts 50 71
Absent Patellae Scrotal Hypoplasia Renal Anomalies Facial Dysmorphism and Mental Retardation 71
Gps 25

Characteristics:

Orphanet epidemiological data:

56
genitopatellar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32

Classifications:



Summaries for Genitopatellar Syndrome

NIH Rare Diseases : 50 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-intellectual disability syndrome, is related to gray platelet syndrome and glanzmann thrombasthenia, and has symptoms including short stature, sparse scalp hair and seizures. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart, kidney and testes, and related phenotype is Decreased shRNA abundance.

UniProtKB/Swiss-Prot : 71 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.

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 : 54
Genitopatellar syndrome is 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 (summary by Penttinen et al., 2009). The SBBYS variant of Ohdo syndrome (603736) is an allelic disorder with overlapping features. (606170)

Wikipedia : 72 Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion... more...

Related Diseases for Genitopatellar Syndrome

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



Diseases related to Genitopatellar Syndrome

Symptoms & Phenotypes for Genitopatellar Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
agenesis of corpus callosum
psychomotor retardation, severe
colpocephaly
periventricular neuronal heterotopia

Head And Neck- Nose:
broad nose
high nasal bridge
large nose

Skin Nails & Hair- Hair:
sparse scalp hair

Head And Neck- Head:
microcephaly

Head And Neck- Ears:
hearing loss

Respiratory- Lung:
pulmonary hypoplasia

Abdomen- Gastroin testinal:
swallowing difficulties
anteriorly positioned anus

Skeletal- Feet:
club feet

Genitourinary- Internal Genitalia Male:
cryptorchidism

Genitourinary- External Genitalia Female:
clitoral hypertrophy
labia minora hypertrophy

Skeletal- Limbs:
limb contractures
absent patellae
knee flexion deformities
dislocated patellae
radioulnar synostosis (reported in 1 patient)

Skin Nails & Hair- Skin:
dimple overlying knee

Head And Neck- Face:
coarse facies
micrognathia

Skeletal- Hands:
brachydactyly
short phalanges

Head And Neck- Eyes:
downslanting palpebral fissures

Genitourinary- External Genitalia Male:
micropenis
hypoplasic scrotum

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Skeletal- Pelvis:
hip contractures
hypoplastic ischia
congenital hip dislocation
hip flexion deformities
hypoplastic inferior pubic rami

Genitourinary- Kidneys:
hydronephrosis
multicystic kidneys

Head And Neck- Teeth:
delayed tooth eruption

Respiratory- Larynx:
laryngomalacia

Genitourinary:
hypoplastic perineum


Clinical features from OMIM:

606170

Human phenotypes related to Genitopatellar Syndrome:

56 32 (show top 50) (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 sparse scalp hair 56 32 frequent (33%) Frequent (79-30%) HP:0002209
3 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
4 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
6 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
7 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
8 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
9 pulmonary hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002089
10 arthrogryposis multiplex congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0002804
11 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002104
13 hydronephrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000126
14 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
15 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
16 talipes equinovarus 56 32 frequent (33%) Frequent (79-30%) HP:0001762
17 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
18 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
19 agenesis of corpus callosum 56 32 frequent (33%) Frequent (79-30%) HP:0001274
20 hypoplastic ilia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000946
21 hypoplastic ischia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003175
22 knee flexion contracture 56 32 hallmark (90%) Very frequent (99-80%) HP:0006380
23 prominent nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000448
24 radioulnar synostosis 56 32 very rare (1%) Occasional (29-5%) HP:0002974
25 feeding difficulties 56 32 occasional (7.5%) Occasional (29-5%) HP:0011968
26 scrotal hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000046
27 patellar aplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0006443
28 fine hair 56 32 frequent (33%) Frequent (79-30%) HP:0002213
29 prominent nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000426
30 clitoral hypertrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008665
31 wide nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000445
32 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
33 delayed speech and language development 56 32 frequent (33%) Frequent (79-30%) HP:0000750
34 delayed eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000684
35 short palm 56 32 hallmark (90%) Very frequent (99-80%) HP:0004279
36 multicystic kidney dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000003
37 hip contracture 56 32 hallmark (90%) Very frequent (99-80%) HP:0003273
38 brachydactyly 32 HP:0001156
39 dysphagia 32 HP:0002015
40 micropenis 32 HP:0000054
41 atrial septal defect 32 occasional (7.5%) HP:0001631
42 polyhydramnios 32 HP:0001561
43 ventricular septal defect 32 HP:0001629
44 downslanted palpebral fissures 32 HP:0000494
45 congenital hip dislocation 32 HP:0001374
46 muscular hypotonia 32 HP:0001252
47 laryngomalacia 32 HP:0001601
48 enlarged labia minora 32 HP:0008683
49 patellar dislocation 32 HP:0002999
50 hypoplastic inferior pubic rami 32 HP:0008823

GenomeRNAi Phenotypes related to Genitopatellar Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 KAT6B LMX1B
2 Decreased shRNA abundance GR00251-A-2 9.23 KAT6B LMX1B

Drugs & Therapeutics for Genitopatellar Syndrome

Search Clinical Trials , NIH Clinical Center for Genitopatellar Syndrome

Genetic Tests for Genitopatellar Syndrome

Genetic tests related to Genitopatellar Syndrome:

id Genetic test Affiliating Genes
1 Genitopatellar Syndrome 29 24

Anatomical Context for Genitopatellar Syndrome

MalaCards organs/tissues related to Genitopatellar Syndrome:

39
Heart, Kidney, Testes, Brain, Thyroid, Bone

Publications for Genitopatellar Syndrome

Articles related to Genitopatellar Syndrome:

(show all 19)
id Title Authors Year
1
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting? ( 28857140 )
2017
2
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. ( 28426343 )
2017
3
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. ( 27452416 )
2016
4
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 )
2016
5
Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up. ( 22568963 )
2013
6
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. ( 22715153 )
2012
7
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. ( 22265014 )
2012
8
Another case of genitopatellar syndrome: a case report with additional rare coexistences. ( 22922314 )
2012
9
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. ( 22265017 )
2012
10
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. ( 20182757 )
2011
11
Genitopatellar syndrome: a further case. ( 21412151 )
2011
12
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. ( 19500117 )
2009
13
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. ( 19208376 )
2009
14
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
15
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. ( 16761293 )
2006
16
Genitopatellar syndrome: expanding the phenotype. ( 12949978 )
2003
17
Genitopatellar syndrome: a recognizable phenotype. ( 12210329 )
2002
18
Genitopatellar syndrome: delineating the anomalies of female genitalia. ( 12210330 )
2002
19
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. ( 10882755 )
2000

Variations for Genitopatellar Syndrome

ClinVar genetic disease variations for Genitopatellar Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KAT6B NM_012330.3(KAT6B): c.3769_3772delTCTA (p.Lys1258Glyfs) deletion Pathogenic rs199470470 GRCh37 Chromosome 10, 76788351: 76788354
2 KAT6B NM_012330.3(KAT6B): c.3892G> T (p.Gly1298Ter) single nucleotide variant Pathogenic rs199470475 GRCh37 Chromosome 10, 76788474: 76788474
3 KAT6B NM_012330.3(KAT6B): c.3802G> T (p.Gly1268Ter) single nucleotide variant Pathogenic rs199470473 GRCh37 Chromosome 10, 76788384: 76788384
4 KAT6B NM_012330.3(KAT6B): c.3681_3696del16 (p.Asp1227Glufs) deletion Pathogenic rs199470469 GRCh37 Chromosome 10, 76788263: 76788278
5 KAT6B NM_012330.3(KAT6B): c.3788_3789delAA (p.Lys1263Argfs) deletion Pathogenic rs199470472 GRCh37 Chromosome 10, 76788370: 76788371
6 KAT6B NM_012330.3(KAT6B): c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs) indel Pathogenic rs199470478 GRCh37 Chromosome 10, 76788942: 76788950

Expression for Genitopatellar Syndrome

Search GEO for disease gene expression data for Genitopatellar Syndrome.

Pathways for Genitopatellar Syndrome

GO Terms for Genitopatellar Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 8.62 KAT6B LMX1B

Sources for Genitopatellar Syndrome

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