KOS
MCID: KFM001
MIFTS: 56

Kaufman Oculocerebrofacial Syndrome (KOS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kaufman Oculocerebrofacial Syndrome

MalaCards integrated aliases for Kaufman Oculocerebrofacial Syndrome:

Name: Kaufman Oculocerebrofacial Syndrome 56 12 74 24 52 25 73 29 6 43 15 39 71
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 56 25 73 39 71
Kos 56 12 52 25 73
Oculocerebrofacial Syndrome, Kaufman Type 12 25 58
Bpids 56 25 73
Severe Mental Retardation, Microcephaly, Long Narrow Face, Ocular Anomalies, and Long Thin Hands and Feet 52
Blepharophimosis-Ptosis-Intellectual Disability Syndrome; Bpids 56
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 24
Blepharophimosis Ptosis Intellectual Disability Syndrome 12
Blepharophimosis-Ptosis-Mental Retardation Syndrome 73
Bpid Syndrome 73

Characteristics:

Orphanet epidemiological data:

58
oculocerebrofacial syndrome, kaufman type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
kaufman oculocerebrofacial syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Kaufman Oculocerebrofacial Syndrome

Genetics Home Reference : 25 Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial). Most individuals with Kaufman oculocerebrofacial syndrome have an unusually small head size (microcephaly), and some have structural abnormalities of the brain. Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor skills such as walking. Intellectual disability is severe or profound. Most affected individuals never acquire the ability to speak. Eye abnormalities and their effect on vision vary among people with Kaufman oculocerebrofacial syndrome. Some people with this disorder have abnormally small or poorly developed eyes (microphthalmia); microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved; missing pieces of tissue in structures that form the eye (coloboma); or underdevelopment of the nerves that carry signals between the eyes and the brain (optic nerve hypoplasia). Eyes that do not look in the same direction (strabismus), nearsightedness (myopia) or farsightedness (hyperopia), or an inward turning of the lower eyelid (entropion) can also occur. Individuals with Kaufman oculocerebrofacial syndrome typically have a characteristic pattern of facial features. These include highly arched eyebrows, an increased distance between the inner corners of the eyes (telecanthus), a narrowing of the eye opening (blepharophimosis), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), and outside corners of the eyes that point upward (upslanting palpebral fissures). Ear abnormalities include low-set ears with small lobes and growths of skin (skin tags) in front of the ear (preauricular tags). The nose has a narrow bridge, a wide base, and nostrils that open to the front rather than downward (anteverted nares). Affected individuals may also have flat cheeks; a space between the nose and upper lip (philtrum) that is unusually long and smooth; a narrow mouth; and an unusually small jaw (micrognathia). Other signs and symptoms that can occur in people with this disorder include short stature; hearing loss; and abnormalities of the heart, respiratory tract, gastrointestinal tract, kidneys, genitals, or skeleton. Affected individuals can live into adulthood; however, their average life expectancy is unknown because of the small number of people who have been diagnosed with this disorder.

MalaCards based summary : Kaufman Oculocerebrofacial Syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is related to kagami-ogata syndrome and angelman syndrome. An important gene associated with Kaufman Oculocerebrofacial Syndrome is UBE3B (Ubiquitin Protein Ligase E3B), and among its related pathways/superpathways are Parkinson disease and fMLP Pathway. Affiliated tissues include eye, skin and brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has material basis in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2707 Definition Oculocerebrofacial syndrome , Kaufman type is characterized by psychomotor retardation, microcephaly , upslanting palpebral fissures, eye abnormalities (microcornea, strabismus , myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc . An autosomal recessive mode of inheritance seems most likely. Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Kaufman oculocerebrofacial syndrome: A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present.

Wikipedia : 74 Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by... more...

More information from OMIM: 244450
GeneReviews: NBK390670

Related Diseases for Kaufman Oculocerebrofacial Syndrome

Diseases related to Kaufman Oculocerebrofacial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 327)
# Related Disease Score Top Affiliating Genes
1 kagami-ogata syndrome 31.4 SLC32A1 SLC17A7 SLC17A6 RPS3A PSMD5 PSMD4
2 angelman syndrome 31.3 PSMD4 NRXN1 H2AC18 FMR1
3 fragile x syndrome 30.9 NRXN2 NRXN1 NLGN2 NLGN1 H2AC18 GRIN2B
4 autism 30.4 NRXN2 NRXN1 NLGN2 NLGN1 GRIN2B GRIA2
5 phelan-mcdermid syndrome 30.3 NRXN2 NRXN1 NLGN2 NLGN1 FMR1 DLG4
6 autism spectrum disorder 30.2 NRXN2 NRXN1 GRIN2B FMR1 DLG4
7 amyotrophic lateral sclerosis 1 30.0 RPS3A PSMD5 PSMD4 PRDM10 H2AC18 GRIA2
8 retinitis pigmentosa 29.7 SLC32A1 SLC17A7 SLC17A6 RPS3A PSMD5 PSMD4
9 pervasive developmental disorder 29.3 SLC32A1 SLC17A7 RPS3A PRDM10 NRXN2 NRXN1
10 platelet groups--ko system 12.4
11 disseminated intravascular coagulation 11.5
12 varicose veins 11.2
13 fanconi anemia, complementation group a 11.2
14 narcolepsy 11.2
15 bronchopulmonary dysplasia 11.2
16 microcephaly 10.7
17 glioblastoma neural subtype 10.6 RPS3A PSMD4
18 alacrima, achalasia, and mental retardation syndrome 10.6
19 blepharophimosis 10.6
20 deafness, autosomal dominant 25 10.6 UBE3B SLC17A7 SLC17A6
21 ophthalmia nodosa 10.6 RPS3A PSMD5 PSMD4
22 congenital disorder of glycosylation, type il 10.6 RPS3A PSMD5 PSMD4
23 myasthenic syndrome, congenital, 21, presynaptic 10.6 RPS3A PSMD5 PSMD4
24 diffuse idiopathic skeletal hyperostosis 10.6 RPS3A PRDM10 GAPDH
25 hereditary lymphedema 10.6 RPS3A PRDM10 H2AC18 ACTB
26 crouzon syndrome with acanthosis nigricans 10.6 GRIN2B GRIA1 DLG4
27 localized pulmonary fibrosis 10.6 PSMD5 PSMD4
28 griscelli syndrome, type 3 10.6 RPS3A PSMD4 PRDM10
29 palmoplantar keratoderma, bothnian type 10.6 PRDM10 GAPDH ACTB
30 retinitis pigmentosa 49 10.6 RPS3A PSMD5 PRDM10
31 cardiomyopathy, familial hypertrophic, 2 10.6 RPS3A PRDM10 GAPDH ACTB
32 retinitis pigmentosa 24 10.6 PRDM10 H2AC18 GAPDH ACTB
33 actinomycosis 10.6 PRDM10 H2AC18 GAPDH ACTB
34 drug-induced lupus erythematosus 10.5 PRDM10 H2AC18 GAPDH ACTB
35 tarp syndrome 10.5 GRIN2B GRIA2 GRIA1 DLG4
36 leukemia, acute monocytic 10.5 H2AC18 GAPDH ACTB
37 ectodermal dysplasia 1, hypohidrotic, x-linked 10.5 PRDM10 H2AC18 ACTB
38 retinitis pigmentosa 11 10.5 RPS3A H2AC18 GAPDH ACTB
39 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.5 PRDM10 H2AC18 GAPDH ACTB
40 sleeping sickness 10.5 PRDM10 H2AC18 GAPDH
41 lens disease 10.5 PRDM10 H2AC18 GAPDH ACTB
42 hair disease 10.5 PRDM10 H2AC18 GAPDH ACTB
43 ovary adenocarcinoma 10.5 PRDM10 H2AC18 GAPDH ACTB
44 mental depression 10.5 H2AC18 GRIN2B GRIA1
45 childhood disintegrative disease 10.5 NRXN2 NRXN1 NLGN2 NLGN1
46 pitt-hopkins-like syndrome 1 10.5 NRXN2 NRXN1 NLGN2 NLGN1
47 hypomyelinating leukodystrophy 10.5 PRDM10 H2AC18 GAPDH ACTB
48 speech disorder 10.5 RPS3A PRDM10 H2AC18 GRIN2B FMR1
49 autosomal recessive disease 10.5
50 hypotonia 10.5

Graphical network of the top 20 diseases related to Kaufman Oculocerebrofacial Syndrome:



Diseases related to Kaufman Oculocerebrofacial Syndrome

Symptoms & Phenotypes for Kaufman Oculocerebrofacial Syndrome

Human phenotypes related to Kaufman Oculocerebrofacial Syndrome:

58 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
7 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
8 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
9 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
10 upslanted palpebral fissure 58 31 very rare (1%) Very frequent (99-80%) HP:0000582
11 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
12 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
13 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
14 long foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001833
15 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
16 failure to thrive 58 31 very rare (1%) Frequent (79-30%) HP:0001508
17 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
18 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
19 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
20 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
21 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
22 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
23 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
24 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
25 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
26 narrow face 58 31 very rare (1%) Frequent (79-30%) HP:0000275
27 preauricular skin tag 58 31 very rare (1%) Frequent (79-30%) HP:0000384
28 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
29 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
30 telecanthus 58 31 very rare (1%) Frequent (79-30%) HP:0000506
31 blepharophimosis 58 31 very rare (1%) Frequent (79-30%) HP:0000581
32 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
33 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
34 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
35 muscle flaccidity 58 31 frequent (33%) Frequent (79-30%) HP:0010547
36 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
37 thin eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045074
38 choroideremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001139
39 chorioretinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001135
40 clitoral hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008665
41 depressed nasal bridge 31 very rare (1%) HP:0005280
42 hypertelorism 31 very rare (1%) HP:0000316
43 anteverted nares 31 very rare (1%) HP:0000463
44 feeding difficulties in infancy 31 very rare (1%) HP:0008872
45 intellectual disability, severe 31 very rare (1%) HP:0010864
46 absent speech 31 very rare (1%) HP:0001344
47 narrow mouth 31 very rare (1%) HP:0000160
48 high palate 31 very rare (1%) HP:0000218
49 low-set ears 31 very rare (1%) HP:0000369
50 ptosis 31 very rare (1%) HP:0000508

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Head:
microcephaly

Growth Other:
failure to thrive

Head And Neck Mouth:
micrognathia
small mouth
palate anomalies

Respiratory Larynx:
laryngomalacia

Genitourinary External Genitalia Female:
hypoplastic labia majora

Laboratory Abnormalities:
elevated tsh
low growth hormone levels
low acth level
anomalies of cholesterol levels

Genitourinary Kidneys:
pyelectasis
double right kidney

Immunology:
frequent infections

Head And Neck Eyes:
hypertelorism
ptosis
myopia
telecanthus
blepharophimosis
more
Growth Height:
short stature

Neurologic Central Nervous System:
intellectual disability, severe
absent speech
hypotonia
hypoplastic corpus callosum
delayed motor milestones
more
Head And Neck Ears:
low-set ears
dysplastic ears

Abdomen Gastrointestinal:
constipation
intestinal malrotation
feeding problems
gastrectasia
distension of gall-bladder

Cardiovascular Heart:
aortic coarctation
atrial septal defect (asd)
ventricular septal defect (vsd)

Skeletal Pelvis:
congenital dislocation of the hip

Skeletal Hands:
clinodactyly of 5th fingers

Clinical features from OMIM:

244450

GenomeRNAi Phenotypes related to Kaufman Oculocerebrofacial Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.53 RPS3A
2 Decreased viability GR00221-A-2 9.53 DLG4
3 Decreased viability GR00240-S-1 9.53 RPS3A
4 Decreased viability GR00249-S 9.53 GAPDH RPS3A
5 Decreased viability GR00381-A-1 9.53 ACTB PRDM10 PSMD4 RPS3A
6 Decreased viability GR00386-A-1 9.53 NLGN1 NRXN2 RPS3A
7 Decreased viability GR00402-S-2 9.53 ACTB NLGN2 PSMD4 RPS3A

MGI Mouse Phenotypes related to Kaufman Oculocerebrofacial Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.19 ACTB DLG4 FMR1 GAPDH GRIA1 GRIA2
2 behavior/neurological MP:0005386 10.17 ACTB DLG4 FMR1 GRIA1 GRIA2 GRIN2B
3 mortality/aging MP:0010768 10.03 ACTB DLG4 GAPDH GRIA2 GRIN2B NLGN1
4 nervous system MP:0003631 9.8 ACTB DLG4 FMR1 GRIA1 GRIA2 GRIN2B
5 normal MP:0002873 9.32 ACTB GRIA1 GRIA2 NLGN1 NRXN1 NRXN2

Drugs & Therapeutics for Kaufman Oculocerebrofacial Syndrome

Search Clinical Trials , NIH Clinical Center for Kaufman Oculocerebrofacial Syndrome

Cochrane evidence based reviews: kaufman oculocerebrofacial syndrome

Genetic Tests for Kaufman Oculocerebrofacial Syndrome

Genetic tests related to Kaufman Oculocerebrofacial Syndrome:

# Genetic test Affiliating Genes
1 Kaufman Oculocerebrofacial Syndrome 29 UBE3B

Anatomical Context for Kaufman Oculocerebrofacial Syndrome

MalaCards organs/tissues related to Kaufman Oculocerebrofacial Syndrome:

40
Eye, Skin, Brain, Kidney, Heart, Pituitary

Publications for Kaufman Oculocerebrofacial Syndrome

Articles related to Kaufman Oculocerebrofacial Syndrome:

(show all 21)
# Title Authors PMID Year
1
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. 6 56 24 61
23200864 2012
2
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. 56 24 61
24615390 2014
3
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. 61 24 56
23687348 2013
4
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 56 6
21567902 2011
5
Kaufman oculocerebrofacial syndrome in a girl of 15 years. 56 61 24
7573151 1995
6
Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. 24 61 56
8275567 1993
7
Kaufman oculocerebrofacial syndrome: case report. 24 56 61
112864 1979
8
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. 24 56
1694631 1990
9
An oculocerebrofacial syndrome. 24 56
5006210 1971
10
Kaufman Oculocerebrofacial Syndrome 61 6
27763745 2016
11
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. 61 24
25691420 2015
12
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 24
22511880 2012
13
Toriello-Carey syndrome: delineation and review. 24
14556252 2003
14
Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. 24
12837265 2003
15
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc. 61
32249816 2020
16
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. 61
31162149 2019
17
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK. 61
30808755 2019
18
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 61
29160006 2018
19
UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase. 61
28003368 2017
20
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 61
25792360 2015
21
In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle. 61
25306138 2014

Variations for Kaufman Oculocerebrofacial Syndrome

ClinVar genetic disease variations for Kaufman Oculocerebrofacial Syndrome:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBE3B NM_130466.4(UBE3B):c.2923-1G>TSNV Pathogenic 802889 12:109971270-109971270 12:109533465-109533465
2 UBE3B NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter)SNV Pathogenic 829809 12:109924284-109924284 12:109486479-109486479
3 UBE3B NM_130466.4(UBE3B):c.2172dup (p.Ile725fs)duplication Pathogenic 829808 12:109959045-109959046 12:109521240-109521241
4 UBE3B NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter)SNV Pathogenic 870136 rs1566078009 12:109927735-109927735 12:109489930-109489930
5 UBE3B NM_130466.4(UBE3B):c.1741+2T>CSNV Pathogenic 50234 rs398123020 12:109947521-109947521 12:109509716-109509716
6 UBE3B NM_130466.4(UBE3B):c.2219_2220AG[2] (p.Arg741fs)short repeat Pathogenic 50235 rs398123021 12:109959095-109959096 12:109521290-109521291
7 UBE3B NM_130466.4(UBE3B):c.545-2A>GSNV Pathogenic 50236 rs398123022 12:109927722-109927722 12:109489917-109489917
8 UBE3B NM_130466.4(UBE3B):c.2180A>C (p.Gln727Pro)SNV Pathogenic 50237 rs398123023 12:109959056-109959056 12:109521251-109521251
9 UBE3B NM_130466.4(UBE3B):c.2568+1G>ASNV Pathogenic 488631 rs1555269815 12:109962309-109962309 12:109524504-109524504
10 UBE3B NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro)SNV Pathogenic/Likely pathogenic 208729 rs539407162 12:109971338-109971338 12:109533533-109533533
11 UBE3B NM_130466.4(UBE3B):c.2681dup (p.Asn894fs)duplication Likely pathogenic 666334 12:109967742-109967743 12:109529937-109529938

UniProtKB/Swiss-Prot genetic disease variations for Kaufman Oculocerebrofacial Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 UBE3B p.Gln727Pro VAR_069712 rs398123023

Expression for Kaufman Oculocerebrofacial Syndrome

Search GEO for disease gene expression data for Kaufman Oculocerebrofacial Syndrome.

Pathways for Kaufman Oculocerebrofacial Syndrome

Pathways related to Kaufman Oculocerebrofacial Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 PSMD4 GRIN2B GRIA2 GRIA1 GAPDH DLG4
2
Show member pathways
12.86 PSMD5 PSMD4 GRIN2B GAPDH DLG4 ACTB
3
Show member pathways
12.71 SLC32A1 SLC17A7 NRXN2 NRXN1 NLGN2 NLGN1
4
Show member pathways
12.58 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1 DLG4
5
Show member pathways
12.42 SLC32A1 SLC17A7 SLC17A6 GRIA2 GRIA1
6 12.39 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1 GAPDH
7
Show member pathways
12.12 GRIN2B GRIA2 GRIA1 DLG4
8 12 NRXN2 NRXN1 NLGN2 NLGN1
9 11.92 PSMD4 GRIN2B GRIA2 GRIA1
10
Show member pathways
11.85 GRIN2B GRIA2 GRIA1 DLG4
11
Show member pathways
11.8 GRIN2B GRIA2 GRIA1 ACTB
12 11.75 GRIN2B GRIA2 GRIA1
13
Show member pathways
11.71 GRIN2B GRIA2 GRIA1
14
Show member pathways
11.67 GRIA2 GRIA1 DLG4
15
Show member pathways
11.61 NRXN2 NRXN1 NLGN2 NLGN1 GRIN2B GRIA1
16 11.58 UBE3B PSMD5 PSMD4 ACTB
17 10.98 GRIN2B GRIA2 GRIA1
18 10.87 GRIN2B GRIA1 DLG4
19 10.78 NRXN2 NRXN1 ACTB
20 10.7 SLC32A1 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1

GO Terms for Kaufman Oculocerebrofacial Syndrome

Cellular components related to Kaufman Oculocerebrofacial Syndrome according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.4 SLC32A1 SLC17A7 NRXN2 NRXN1 NLGN2 NLGN1
2 dendrite GO:0030425 9.99 SLC32A1 NLGN1 GRIA2 GRIA1 FMR1 DLG4
3 neuron projection GO:0043005 9.98 SLC32A1 SLC17A7 SLC17A6 GRIN2B GRIA1 FMR1
4 glutamatergic synapse GO:0098978 9.96 NRXN1 NLGN1 GRIA1 DLG4 ACTB
5 postsynaptic density GO:0014069 9.93 NLGN1 GRIN2B GRIA2 GRIA1 FMR1 DLG4
6 dendritic spine GO:0043197 9.89 NLGN1 GRIA2 GRIA1 FMR1 DLG4
7 ribonucleoprotein complex GO:1990904 9.87 RPS3A GAPDH FMR1 ACTB
8 synaptic vesicle GO:0008021 9.85 SLC32A1 SLC17A7 GRIA1 DLG4
9 postsynaptic membrane GO:0045211 9.85 NLGN2 GRIN2B GRIA2 GRIA1 FMR1 DLG4
10 cell junction GO:0030054 9.85 SLC17A7 SLC17A6 NRXN1 NLGN2 NLGN1 GRIN2B
11 synaptic vesicle membrane GO:0030672 9.8 SLC32A1 SLC17A7 SLC17A6
12 presynapse GO:0098793 9.8 NRXN2 NRXN1 NLGN1 FMR1 DLG4 ACTB
13 presynaptic membrane GO:0042734 9.79 NRXN1 NLGN2 FMR1
14 GABA-ergic synapse GO:0098982 9.79 SLC32A1 NRXN1 NLGN2
15 postsynaptic density membrane GO:0098839 9.78 GRIN2B GRIA2 GRIA1 DLG4
16 endocytic vesicle membrane GO:0030666 9.77 GRIA2 GRIA1 DLG4
17 postsynapse GO:0098794 9.73 SLC17A7 NLGN1 GRIA2 GRIA1 FMR1 DLG4
18 integral component of synaptic vesicle membrane GO:0030285 9.71 SLC32A1 SLC17A7 SLC17A6
19 synaptic membrane GO:0097060 9.71 NLGN1 GRIN2B GRIA1 DLG4
20 AMPA glutamate receptor complex GO:0032281 9.7 GRIA2 GRIA1 DLG4
21 proteasome accessory complex GO:0022624 9.65 PSMD5 PSMD4
22 ionotropic glutamate receptor complex GO:0008328 9.65 GRIA1 DLG4
23 inhibitory synapse GO:0060077 9.64 SLC32A1 NLGN2
24 intracellular organelle GO:0043229 9.64 SLC32A1 SLC17A7
25 proteasome regulatory particle, base subcomplex GO:0008540 9.63 PSMD5 PSMD4
26 NMDA selective glutamate receptor complex GO:0017146 9.62 NLGN1 GRIN2B
27 spanning component of membrane GO:0089717 9.61 NLGN2 NLGN1
28 neuron spine GO:0044309 9.6 GRIA1 DLG4
29 cerebellar mossy fiber GO:0044300 9.58 SLC17A7 DLG4
30 synapse GO:0045202 9.47 SLC32A1 SLC17A7 SLC17A6 RPS3A NRXN2 NRXN1
31 excitatory synapse GO:0060076 9.43 SLC17A7 SLC17A6 NLGN1 GRIA2 GRIA1 DLG4

Biological processes related to Kaufman Oculocerebrofacial Syndrome according to GeneCards Suite gene sharing:

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.14 SLC32A1 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1
2 MAPK cascade GO:0000165 9.99 PSMD5 PSMD4 GRIN2B DLG4
3 modulation of chemical synaptic transmission GO:0050804 9.88 NLGN2 NLGN1 GRIN2B GRIA2 GRIA1
4 positive regulation of synapse assembly GO:0051965 9.85 NRXN1 NLGN2 NLGN1
5 neurotransmitter secretion GO:0007269 9.84 SLC32A1 NRXN2 NRXN1
6 synapse assembly GO:0007416 9.84 NRXN2 NRXN1 NLGN2 NLGN1
7 social behavior GO:0035176 9.83 NRXN2 NRXN1 DLG4
8 neuromuscular process controlling balance GO:0050885 9.81 NRXN1 NLGN2 DLG4
9 neurotransmitter transport GO:0006836 9.8 SLC32A1 SLC17A7 SLC17A6
10 synaptic vesicle endocytosis GO:0048488 9.8 NLGN2 NLGN1 ACTB
11 establishment of protein localization GO:0045184 9.79 NRXN1 NLGN1 DLG4
12 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.76 NRXN1 NLGN2 NLGN1
13 positive regulation of excitatory postsynaptic potential GO:2000463 9.76 NRXN1 NLGN2 NLGN1 DLG4
14 regulation of AMPA receptor activity GO:2000311 9.74 NRXN1 NLGN2 NLGN1
15 ionotropic glutamate receptor signaling pathway GO:0035235 9.73 GRIN2B GRIA2 GRIA1
16 vocalization behavior GO:0071625 9.72 NRXN2 NRXN1 DLG4
17 synaptic transmission, glutamatergic GO:0035249 9.72 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1
18 neuron cell-cell adhesion GO:0007158 9.71 NRXN2 NRXN1 NLGN2 NLGN1
19 L-glutamate transmembrane transport GO:0015813 9.7 SLC17A7 SLC17A6
20 glutamate receptor signaling pathway GO:0007215 9.7 GRIN2B FMR1
21 presynapse assembly GO:0099054 9.7 NLGN2 NLGN1
22 receptor localization to synapse GO:0097120 9.7 NRXN1 NLGN1 DLG4
23 locomotory exploration behavior GO:0035641 9.69 NLGN2 DLG4
24 positive regulation of synaptic transmission, GABAergic GO:0032230 9.69 NLGN2 NLGN1
25 presynaptic membrane assembly GO:0097105 9.69 NRXN1 NLGN2 NLGN1
26 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.68 NLGN2 NLGN1
27 proteasome assembly GO:0043248 9.68 PSMD5 PSMD4
28 regulation of synapse structure or activity GO:0050803 9.68 SLC17A7 SLC17A6
29 synaptic vesicle clustering GO:0097091 9.68 NRXN1 NLGN1
30 vocal learning GO:0042297 9.67 NRXN2 NRXN1
31 neuronal signal transduction GO:0023041 9.67 NRXN1 NLGN1
32 neurotransmitter loading into synaptic vesicle GO:0098700 9.67 SLC32A1 SLC17A7 SLC17A6
33 protein localization to synapse GO:0035418 9.67 NRXN1 NLGN2 NLGN1 DLG4
34 regulation of grooming behavior GO:2000821 9.65 NRXN1 DLG4
35 positive regulation of synaptic vesicle clustering GO:2000809 9.65 NLGN2 NLGN1
36 positive regulation of protein localization to synapse GO:1902474 9.64 NLGN2 NLGN1
37 NMDA glutamate receptor clustering GO:0097114 9.64 NRXN1 NLGN1
38 neuroligin clustering involved in postsynaptic membrane assembly GO:0097118 9.61 NRXN2 NRXN1
39 AMPA glutamate receptor clustering GO:0097113 9.61 NLGN1 DLG4
40 gephyrin clustering involved in postsynaptic density assembly GO:0097116 9.61 NRXN2 NRXN1 NLGN2
41 chemical synaptic transmission GO:0007268 9.61 SLC17A7 NRXN2 NRXN1 NLGN2 NLGN1 GRIN2B
42 postsynaptic specialization assembly GO:0098698 9.6 NLGN2 NLGN1
43 terminal button organization GO:0072553 9.59 NLGN2 NLGN1
44 positive regulation of presynaptic active zone assembly GO:1905520 9.58 NRXN1 NLGN1
45 postsynaptic membrane assembly GO:0097104 9.56 NRXN2 NRXN1 NLGN2 NLGN1
46 postsynaptic density protein 95 clustering GO:0097119 9.46 NRXN2 NRXN1 NLGN2 NLGN1
47 regulation of NMDA receptor activity GO:2000310 9.1 NRXN1 NLGN1 GRIN2B GRIA2 GRIA1 DLG4

Molecular functions related to Kaufman Oculocerebrofacial Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 PDZ domain binding GO:0030165 9.67 NLGN1 GRIA1 DLG4
2 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.63 GRIN2B GRIA2 GRIA1
3 amyloid-beta binding GO:0001540 9.62 NLGN1 GRIN2B GRIA2 GRIA1
4 ligand-gated ion channel activity GO:0015276 9.58 GRIN2B GRIA2 GRIA1
5 neurexin family protein binding GO:0042043 9.54 NLGN2 NLGN1
6 glutamate receptor activity GO:0008066 9.54 GRIN2B GRIA2 GRIA1
7 acetylcholine receptor binding GO:0033130 9.52 NRXN1 DLG4
8 L-glutamate transmembrane transporter activity GO:0005313 9.51 SLC17A7 SLC17A6
9 neurotransmitter transporter activity GO:0005326 9.48 SLC17A7 SLC17A6
10 cell adhesion molecule binding GO:0050839 9.46 NRXN2 NRXN1 NLGN2 NLGN1
11 AMPA glutamate receptor activity GO:0004971 9.43 GRIA2 GRIA1
12 ionotropic glutamate receptor activity GO:0004970 9.43 GRIN2B GRIA2 GRIA1
13 signaling receptor activity GO:0038023 9.43 NRXN1 NLGN2 NLGN1 GRIN2B GRIA2 GRIA1
14 neuroligin family protein binding GO:0097109 8.8 NRXN2 NRXN1 DLG4

Sources for Kaufman Oculocerebrofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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