KOS
MCID: KFM001
MIFTS: 50

Kaufman Oculocerebrofacial Syndrome (KOS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Kaufman Oculocerebrofacial Syndrome

MalaCards integrated aliases for Kaufman Oculocerebrofacial Syndrome:

Name: Kaufman Oculocerebrofacial Syndrome 57 11 24 19 42 75 73 43 14 38 71
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 57 42 73 38 71
Oculocerebrofacial Syndrome, Kaufman Type 11 42 58 28 5
Kos 57 11 19 42 73
Bpids 57 42 73
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, and Long Thin Hands and Feet 19
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 24
Blepharophimosis Ptosis Intellectual Disability Syndrome 11
Bpid Syndrome 73

Characteristics:


Inheritance:

Kaufman Oculocerebrofacial Syndrome: Autosomal recessive 57
Oculocerebrofacial Syndrome, Kaufman Type: Autosomal recessive 58

Prevelance:

Oculocerebrofacial Syndrome, Kaufman Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Oculocerebrofacial Syndrome, Kaufman Type: Antenatal,Neonatal 58

Classifications:

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


Summaries for Kaufman Oculocerebrofacial Syndrome

MedlinePlus Genetics: 42 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 ohdo syndrome and coffin-siris syndrome 1. An important gene associated with Kaufman Oculocerebrofacial Syndrome is UBE3B (Ubiquitin Protein Ligase E3B), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include eye, brain and skin, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot: 73 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.

OMIM®: 57 Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability (summary by Basel-Vanagaite et al., 2014). (244450) (Updated 24-Oct-2022)

Disease Ontology: 11 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.

GARD: 19 A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.

Orphanet: 58 A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.

Wikipedia: 75 Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by... more...

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 108)
# Related Disease Score Top Affiliating Genes
1 ohdo syndrome 30.5 UBE3B UBE2A
2 coffin-siris syndrome 1 30.1 UBE3A UBE2A BCKDK
3 kagami-ogata syndrome 11.1
4 varicose veins 11.0
5 microcephaly 10.6
6 herpes simplex 10.6
7 blepharophimosis 10.6
8 alacrima, achalasia, and mental retardation syndrome 10.5
9 ptosis 10.4
10 hypotonia 10.4
11 strabismus 10.3
12 telecanthus 10.3
13 myopia 10.3
14 angelman syndrome 10.2
15 cleft palate, isolated 10.2
16 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
17 hypertelorism 10.2
18 autism 10.2
19 aortic valve disease 2 10.2
20 autism spectrum disorder 10.2
21 subvalvular aortic stenosis 10.2
22 talipes equinovarus 10.2
23 factor vii deficiency 10.2
24 coloboma of macula 10.2
25 laryngomalacia 10.2
26 craniofacial microsomia 10.2
27 optic nerve hypoplasia, bilateral 10.2
28 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.2
29 ataxia with vitamin e deficiency 10.2
30 astigmatism 10.2
31 scoliosis 10.2
32 sensorineural hearing loss 10.2
33 microphthalmia 10.2
34 entropion 10.2
35 newborn respiratory distress syndrome 10.2
36 refractive error 10.2
37 ddx3x-related neurodevelopmental disorder 10.2
38 farsightedness 10.2
39 posttransplant acute limbic encephalitis 10.2
40 microtia 10.2
41 ohdo syndrome, sbbys variant 10.2 UBE3B UBE2A
42 charcot-marie-tooth disease, axonal, type 2l 10.1 DCAF8 CRYAA
43 charcot-marie-tooth disease, axonal, type 2f 10.1 DCAF8 CRYAA
44 hypothyroidism, congenital, nongoitrous, 2 10.1
45 thyrotropin-releasing hormone deficiency 10.1
46 myocardial infarction 10.1
47 hypothyroidism, congenital, nongoitrous, 3 10.1
48 autosomal dominant distal hereditary motor neuronopathy 10.1 DCAF8 CRYAA
49 anisometropia 10.0 NDUFAF7 CRYAA
50 keratitis, hereditary 10.0

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 30 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
4 optic atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000648
5 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
6 retrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000278
7 micrognathia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000347
8 specific learning disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001328
9 arachnodactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001166
10 upslanted palpebral fissure 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000582
11 flat occiput 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005469
12 respiratory failure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002878
13 respiratory distress 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002098
14 long foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001833
15 failure to thrive 58 30 Very rare (1%) Frequent (79-30%)
HP:0001508
16 nystagmus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000639
17 smooth philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000319
18 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
19 microdontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000691
20 growth delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001510
21 high, narrow palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002705
22 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
23 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
24 narrow face 58 30 Very rare (1%) Frequent (79-30%)
HP:0000275
25 preauricular skin tag 58 30 Very rare (1%) Frequent (79-30%)
HP:0000384
26 long face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000276
27 short philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000322
28 telecanthus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000506
29 wide mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000154
30 blepharophimosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0000581
31 thin vermilion border 58 30 Frequent (33%) Frequent (79-30%)
HP:0000233
32 microcornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000482
33 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
34 short palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0012745
35 muscle flaccidity 58 30 Frequent (33%) Frequent (79-30%)
HP:0010547
36 absent eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0002223
37 thin eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0045074
38 choroideremia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001139
39 chorioretinal dystrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001135
40 clitoral hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008665
41 ptosis 30 Very rare (1%) HP:0000508
42 constipation 30 Very rare (1%) HP:0002019
43 high palate 30 Very rare (1%) HP:0000218
44 depressed nasal bridge 30 Very rare (1%) HP:0005280
45 hypertelorism 30 Very rare (1%) HP:0000316
46 anteverted nares 30 Very rare (1%) HP:0000463
47 feeding difficulties in infancy 30 Very rare (1%) HP:0008872
48 intellectual disability, severe 30 Very rare (1%) HP:0010864
49 absent speech 30 Very rare (1%) HP:0001344
50 low-set ears 30 Very rare (1%) HP:0000369

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

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

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
intellectual disability, severe
absent speech
hypotonia
chiari type i malformation
hypoplastic corpus callosum
more
Head And Neck Ears:
low-set ears
dysplastic ears

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:
ptosis
hypertelorism
myopia
telecanthus
blepharophimosis
more
Head And Neck Nose:
depressed nasal bridge
anteverted nares

Growth Height:
short stature

Head And Neck Mouth:
micrognathia
small mouth
palate anomalies

Respiratory Larynx:
laryngomalacia

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 (Updated 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with cisplatin GR00101-A-1 8.96 UBE2A UBE3B
2 Synthetic lethal with paclitaxel GR00101-A-3 8.62 BCKDK HACE1

MGI Mouse Phenotypes related to Kaufman Oculocerebrofacial Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.4 ASB10 BCKDK DCAF8 HERC2 HUWE1 MIR378A

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 Oculocerebrofacial Syndrome, Kaufman Type 28 UBE3B

Anatomical Context for Kaufman Oculocerebrofacial Syndrome

Organs/tissues related to Kaufman Oculocerebrofacial Syndrome:

MalaCards : Eye, Brain, Skin, Heart, Pituitary, Kidney

Publications for Kaufman Oculocerebrofacial Syndrome

Articles related to Kaufman Oculocerebrofacial Syndrome:

(show all 28)
# Title Authors PMID Year
1
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. 62 24 57 5
24615390 2014
2
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. 62 24 57 5
23200864 2012
3
Toriello-Carey syndrome: delineation and review. 24 57 5
14556252 2003
4
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. 24 57 5
1694631 1990
5
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. 62 24 57
23687348 2013
6
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 57 5
21567902 2011
7
Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. 62 24 57
8275567 1993
8
Kaufman oculocerebrofacial syndrome: case report. 62 24 57
112864 1979
9
An oculocerebrofacial syndrome. 24 57
5006210 1971
10
Kaufman oculocerebrofacial syndrome in a girl of 15 years. 62 57
7573151 1995
11
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum. 62 24
34012380 2021
12
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. 62 24
32949109 2020
13
Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases. 62 24
33182779 2020
14
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. 62 24
31162149 2019
15
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 62 24
29160006 2018
16
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
17
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. 62 24
25691420 2015
18
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. 24
32694869 2020
19
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
20
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
21
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 24
28003643 2017
22
Split Chloramphenicol Acetyl-Transferase Assay Reveals Self-Ubiquitylation-Dependent Regulation of UBE3B. 62
34599943 2021
23
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc. 62
32249816 2021
24
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK. 62
30808755 2019
25
UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase. 62
28003368 2017
26
Kaufman Oculocerebrofacial Syndrome 62
27763745 2016
27
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 62
25792360 2015
28
In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle. 62
25306138 2014

Variations for Kaufman Oculocerebrofacial Syndrome

ClinVar genetic disease variations for Kaufman Oculocerebrofacial Syndrome:

5 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UBE3B NM_130466.4(UBE3B):c.1741+2T>C SNV Pathogenic
50234 rs398123020 GRCh37: 12:109947521-109947521
GRCh38: 12:109509716-109509716
2 UBE3B NM_130466.4(UBE3B):c.2223_2224del (p.Arg741fs) MICROSAT Pathogenic
50235 rs398123021 GRCh37: 12:109959095-109959096
GRCh38: 12:109521290-109521291
3 UBE3B NM_130466.4(UBE3B):c.545-2A>G SNV Pathogenic
50236 rs398123022 GRCh37: 12:109927722-109927722
GRCh38: 12:109489917-109489917
4 UBE3B NM_130466.4(UBE3B):c.2180A>C (p.Gln727Pro) SNV Pathogenic
50237 rs398123023 GRCh37: 12:109959056-109959056
GRCh38: 12:109521251-109521251
5 UBE3B NM_130466.4(UBE3B):c.1774del (p.Gln592fs) DEL Pathogenic
242636 rs672601305 GRCh37: 12:109948180-109948180
GRCh38: 12:109510375-109510375
6 UBE3B NM_130466.4(UBE3B):c.2568+1G>A SNV Pathogenic
488631 rs1555269815 GRCh37: 12:109962309-109962309
GRCh38: 12:109524504-109524504
7 UBE3B NM_130466.4(UBE3B):c.2923-1G>T SNV Pathogenic
802889 rs1409120511 GRCh37: 12:109971270-109971270
GRCh38: 12:109533465-109533465
8 UBE3B NM_130466.4(UBE3B):c.2172dup (p.Ile725fs) DUP Pathogenic
829808 rs765785230 GRCh37: 12:109959045-109959046
GRCh38: 12:109521240-109521241
9 UBE3B NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter) SNV Pathogenic
829809 rs1592882265 GRCh37: 12:109924284-109924284
GRCh38: 12:109486479-109486479
10 UBE3B NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter) SNV Pathogenic
870136 rs1566078009 GRCh37: 12:109927735-109927735
GRCh38: 12:109489930-109489930
11 UBE3B NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter) SNV Pathogenic
225041 rs775981553 GRCh37: 12:109921417-109921417
GRCh38: 12:109483612-109483612
12 UBE3B NM_130466.4(UBE3B):c.2228_2229del (p.Val742_Phe743insTer) DEL Pathogenic
1032375 rs758821239 GRCh37: 12:109959101-109959102
GRCh38: 12:109521296-109521297
13 UBE3B NM_130466.4(UBE3B):c.2302del (p.His768fs) DEL Pathogenic
1323733 GRCh37: 12:109959293-109959293
GRCh38: 12:109521488-109521488
14 UBE3B NM_130466.4(UBE3B):c.343-1G>A SNV Pathogenic
1323734 GRCh37: 12:109924275-109924275
GRCh38: 12:109486470-109486470
15 UBE3B NM_130466.4(UBE3B):c.447+1G>T SNV Pathogenic
1323735 GRCh37: 12:109924381-109924381
GRCh38: 12:109486576-109486576
16 UBE3B NM_130466.4(UBE3B):c.25dup (p.Arg9fs) DUP Pathogenic
1323736 GRCh37: 12:109921380-109921381
GRCh38: 12:109483575-109483576
17 UBE3B NM_130466.4(UBE3B):c.2061del (p.Ser688fs) DEL Pathogenic
1683785 GRCh37: 12:109954673-109954673
GRCh38: 12:109516868-109516868
18 UBE3B NM_130466.4(UBE3B):c.2624dup (p.Asn875fs) DUP Pathogenic
1684269 GRCh37: 12:109964214-109964215
GRCh38: 12:109526409-109526410
19 UBE3B NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro) SNV Pathogenic
208729 rs539407162 GRCh37: 12:109971338-109971338
GRCh38: 12:109533533-109533533
20 UBE3B NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg) SNV Pathogenic
1691089 GRCh37: 12:109959327-109959327
GRCh38: 12:109521522-109521522
21 UBE3B NM_130466.4(UBE3B):c.2098C>T (p.Gln700Ter) SNV Pathogenic
1691090 GRCh37: 12:109958974-109958974
GRCh38: 12:109521169-109521169
22 UBE3B NM_130466.4(UBE3B):c.1445T>A (p.Leu482His) SNV Pathogenic
Uncertain Significance
1691088 rs1879212341 GRCh37: 12:109940990-109940990
GRCh38: 12:109503185-109503185
23 UBE3B NM_130466.4(UBE3B):c.1956+1G>A SNV Pathogenic
521558 rs1304422857 GRCh37: 12:109949109-109949109
GRCh38: 12:109511304-109511304
24 UBE3B NM_130466.4(UBE3B):c.1852C>T (p.Arg618Ter) SNV Likely Pathogenic
504153 rs746058354 GRCh37: 12:109948259-109948259
GRCh38: 12:109510454-109510454
25 UBE3B NM_130466.4(UBE3B):c.2407del (p.Gln803fs) DEL Likely Pathogenic
1325327 GRCh37: 12:109961824-109961824
GRCh38: 12:109524019-109524019
26 UBE3B NM_130466.4(UBE3B):c.2681dup (p.Asn894fs) DUP Likely Pathogenic
666334 rs1592972259 GRCh37: 12:109967742-109967743
GRCh38: 12:109529937-109529938
27 UBE3B NM_130466.4(UBE3B):c.1166G>T (p.Trp389Leu) SNV Uncertain Significance
932114 rs368887776 GRCh37: 12:109939223-109939223
GRCh38: 12:109501418-109501418
28 UBE3B NM_130466.4(UBE3B):c.3046C>T (p.Arg1016Trp) SNV Uncertain Significance
1032376 rs192805046 GRCh37: 12:109972426-109972426
GRCh38: 12:109534621-109534621
29 UBE3B NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr) SNV Uncertain Significance
496688 rs753221661 GRCh37: 12:109971310-109971310
GRCh38: 12:109533505-109533505
30 UBE3B NM_130466.4(UBE3B):c.3015+4C>T SNV Uncertain Significance
1028545 rs1333719194 GRCh37: 12:109971367-109971367
GRCh38: 12:109533562-109533562
31 UBE3B NM_130466.4(UBE3B):c.893G>A (p.Arg298His) SNV Uncertain Significance
1028546 rs755402322 GRCh37: 12:109936111-109936111
GRCh38: 12:109498306-109498306
32 UBE3B NM_130466.4(UBE3B):c.1616T>C (p.Leu539Pro) SNV Uncertain Significance
984708 rs1879869290 GRCh37: 12:109945534-109945534
GRCh38: 12:109507729-109507729
33 UBE3B NM_130466.4(UBE3B):c.3014A>C (p.Gln1005Pro) SNV Uncertain Significance
1684270 GRCh37: 12:109971362-109971362
GRCh38: 12:109533557-109533557
34 UBE3B NM_130466.4(UBE3B):c.1037G>A (p.Arg346Gln) SNV Benign
1600613 GRCh37: 12:109937534-109937534
GRCh38: 12:109499729-109499729

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 UBE3C UBE3B UBE3A UBE2A RNF216 HUWE1
2
Show member pathways
12.88 UBE3C UBE3B UBE3A UBE2A HUWE1 HERC2
3 11.19 UBE3C UBE3B UBE3A HACE1
4 11.12 UBE3C UBE3B UBE3A UBE2A HACE1

GO Terms for Kaufman Oculocerebrofacial Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 10.03 UBE3C UBE3B UBE3A UBE2A KLHL15 HACE1
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 10.02 UBE2A RNF216 HUWE1 HERC2 HACE1
3 protein polyubiquitination GO:0000209 9.93 HACE1 HUWE1 UBE2A UBE3A UBE3B UBE3C
4 histone ubiquitination GO:0016574 9.67 UBE2A HUWE1
5 protein K48-linked ubiquitination GO:0070936 9.65 UBE3C UBE3A UBE2A RNF216 HACE1
6 protein ubiquitination GO:0016567 9.64 UBE3C UBE3B UBE3A UBE2A RNF216 RNF170

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 9.9 UBE3C UBE3B UBE3A UBE2A HUWE1 HERC2
2 ubiquitin protein ligase activity GO:0061630 9.86 UBE3C UBE3B UBE3A RNF216 RNF170 HUWE1
3 transferase activity GO:0016740 9.36 UBE3C UBE3B UBE3A UBE2A RNF216 RNF170

Sources for Kaufman Oculocerebrofacial Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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