KOS
MCID: KFM001
MIFTS: 39

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 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 platelet groups--ko system and disseminated intravascular coagulation. An important gene associated with Kaufman Oculocerebrofacial Syndrome is UBE3B (Ubiquitin Protein Ligase E3B). 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 247)
# Related Disease Score Top Affiliating Genes
1 platelet groups--ko system 12.4
2 disseminated intravascular coagulation 11.5
3 kagami-ogata syndrome 11.3
4 varicose veins 11.2
5 fanconi anemia, complementation group a 11.2
6 coccidioidomycosis 11.2
7 narcolepsy 11.2
8 bronchopulmonary dysplasia 11.2
9 microcephaly 10.7
10 blepharophimosis 10.6
11 alacrima, achalasia, and mental retardation syndrome 10.6
12 hypotonia 10.5
13 herpes simplex 10.5
14 strabismus 10.4
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
16 autosomal recessive disease 10.4
17 ptosis 10.4
18 myopia 10.4
19 mechanical strabismus 10.4
20 fragile x syndrome 10.4
21 atherosclerosis susceptibility 10.4
22 angelman syndrome 10.4
23 coloboma of macula 10.3
24 laryngomalacia 10.3
25 optic nerve hypoplasia, bilateral 10.3
26 telecanthus 10.3
27 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.3
28 astigmatism 10.3
29 scoliosis 10.3
30 sensorineural hearing loss 10.3
31 microphthalmia 10.3
32 entropion 10.3
33 refractive error 10.3
34 posttransplant acute limbic encephalitis 10.3
35 autism 10.2
36 ataxia and polyneuropathy, adult-onset 10.1
37 non-alcoholic steatohepatitis 10.1
38 severe combined immunodeficiency 10.1
39 fatty liver disease 10.1
40 hypercholesterolemia, familial, 1 10.1
41 autism spectrum disorder 10.1
42 non-alcoholic fatty liver disease 10.1
43 liver disease 10.1
44 spinal stenosis 10.1
45 cytokine deficiency 10.1
46 pituitary tumors 10.1
47 fibrosis of extraocular muscles, congenital, 1 10.0
48 schistosoma mansoni infection, susceptibility/ 10.0
49 aortic atherosclerosis 10.0
50 glucose intolerance 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 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 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
8 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
9 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
10 upslanted palpebral fissure 58 31 very rare (1%) Very frequent (99-80%) HP:0000582
11 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
12 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
13 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
14 long foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001833
15 failure to thrive 58 31 very rare (1%) Frequent (79-30%) HP:0001508
16 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
17 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
18 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
19 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
20 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
21 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
22 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
23 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
24 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
25 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
26 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
27 telecanthus 58 31 very rare (1%) Frequent (79-30%) HP:0000506
28 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
29 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
30 narrow face 58 31 very rare (1%) Frequent (79-30%) HP:0000275
31 preauricular skin tag 58 31 very rare (1%) Frequent (79-30%) HP:0000384
32 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
33 blepharophimosis 58 31 very rare (1%) Frequent (79-30%) HP:0000581
34 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
35 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
36 muscle flaccidity 58 31 frequent (33%) Frequent (79-30%) HP:0010547
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 hypertelorism 31 very rare (1%) HP:0000316
42 low-set ears 31 very rare (1%) HP:0000369
43 ptosis 31 very rare (1%) HP:0000508
44 constipation 31 very rare (1%) HP:0002019
45 high palate 31 very rare (1%) HP:0000218
46 depressed nasal bridge 31 very rare (1%) HP:0005280
47 anteverted nares 31 very rare (1%) HP:0000463
48 feeding difficulties in infancy 31 very rare (1%) HP:0008872
49 intellectual disability, severe 31 very rare (1%) HP:0010864
50 thin skin 31 very rare (1%) HP:0000963

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
myopia
telecanthus
blepharophimosis
more
Growth Other:
failure to thrive

Head And Neck Nose:
depressed nasal bridge
anteverted nares

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 Ears:
low-set ears
dysplastic ears

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

Growth Height:
short stature

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
intellectual disability, severe
absent speech
hypotonia
hypoplastic corpus callosum
delayed motor milestones
more
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

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, Heart, Kidney, Bone, Liver

Publications for Kaufman Oculocerebrofacial Syndrome

Articles related to Kaufman Oculocerebrofacial Syndrome:

(show all 20)
# Title Authors PMID Year
1
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. 61 24 56 6
23200864 2012
2
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. 61 24 56
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. 61 24 56
7573151 1995
6
Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. 61 24 56
8275567 1993
7
Kaufman oculocerebrofacial syndrome: case report. 61 24 56
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
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. 61
31162149 2019
16
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK. 61
30808755 2019
17
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 61
29160006 2018
18
UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase. 61
28003368 2017
19
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 61
25792360 2015
20
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBE3B NM_130466.4(UBE3B):c.1741+2T>CSNV Pathogenic 50234 rs398123020 12:109947521-109947521 12:109509716-109509716
2 UBE3B NM_130466.4(UBE3B):c.2219_2220AG[2] (p.Arg741fs)short repeat Pathogenic 50235 rs398123021 12:109959095-109959096 12:109521290-109521291
3 UBE3B NM_130466.4(UBE3B):c.545-2A>GSNV Pathogenic 50236 rs398123022 12:109927722-109927722 12:109489917-109489917
4 UBE3B NM_130466.4(UBE3B):c.2180A>C (p.Gln727Pro)SNV Pathogenic 50237 rs398123023 12:109959056-109959056 12:109521251-109521251
5 UBE3B NM_130466.4(UBE3B):c.2568+1G>ASNV Pathogenic 488631 rs1555269815 12:109962309-109962309 12:109524504-109524504
6 UBE3B NM_130466.4(UBE3B):c.2923-1G>TSNV Pathogenic 802889 12:109971270-109971270 12:109533465-109533465
7 UBE3B NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro)SNV Pathogenic/Likely pathogenic 208729 rs539407162 12:109971338-109971338 12:109533533-109533533
8 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

GO Terms for Kaufman Oculocerebrofacial Syndrome

Sources for Kaufman Oculocerebrofacial Syndrome

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43 MeSH
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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