KOS
MCID: KFM001
MIFTS: 36

Kaufman Oculocerebrofacial Syndrome (KOS)

Categories: 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 58 77 25 54 26 76 30 6 41 74
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 58 26 76 13 41 74
Kos 58 54 26 76
Bpids 58 26 76
Severe Mental Retardation, Microcephaly, Long Narrow Face, Ocular Anomalies, and Long Thin Hands and Feet 54
Blepharophimosis-Ptosis-Intellectual Disability Syndrome; Bpids 58
Blepharophimosis-Ptosis-Mental Retardation Syndrome 76
Blepharophimosis-Ptosis-Intellectual Disability 25
Oculocerebrofacial Syndrome, Kaufman Type 26
Bpid Syndrome 76
Bpid 25

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
kaufman oculocerebrofacial syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kaufman Oculocerebrofacial Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2707Disease definitionOculocerebrofacial 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.

MalaCards based summary : Kaufman Oculocerebrofacial Syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is related to platelet groups--ko system and kagami-ogata syndrome. 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

Genetics Home Reference : 26 Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial).

UniProtKB/Swiss-Prot : 76 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 : 77 Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by... more...

Description 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 99)
# Related Disease Score Top Affiliating Genes
1 platelet groups--ko system 12.3
2 kagami-ogata syndrome 11.1
3 varicose veins 11.1
4 fanconi anemia, complementation group a 11.1
5 bronchopulmonary dysplasia 11.1
6 disseminated intravascular coagulation 11.1
7 narcolepsy 11.1
8 alacrima, achalasia, and mental retardation syndrome 10.4
9 ptosis 10.4
10 blepharophimosis 10.4
11 herpes simplex 10.1
12 atherosclerosis susceptibility 10.1
13 fragile x syndrome 10.0
14 adenocarcinoma 10.0
15 nonalcoholic steatohepatitis 10.0
16 blood group--kell system 9.9
17 giant axonal neuropathy 1, autosomal recessive 9.9
18 biliary atresia 9.9
19 axonal neuropathy 9.9
20 neuropathy 9.9
21 fatty liver disease 9.9
22 giant axonal neuropathy 9.9
23 cytokine deficiency 9.9
24 depression 9.9
25 aortic aneurysm, familial abdominal, 1 9.8
26 breast cancer 9.8
27 colorectal cancer 9.8
28 diabetes mellitus, noninsulin-dependent 9.8
29 multiple sclerosis 9.8
30 fish-eye disease 9.8
31 gilles de la tourette syndrome 9.8
32 osteoporosis 9.8
33 ovarian cancer 9.8
34 small cell cancer of the lung 9.8
35 autism 9.8
36 lung cancer 9.8
37 disorganization, mouse, homolog of 9.8
38 keratoconus posticus circumscriptus 9.8
39 canavan disease 9.8
40 body mass index quantitative trait locus 11 9.8
41 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8
42 aging 9.8
43 body mass index quantitative trait locus 8 9.8
44 brittle bone disorder 9.8
45 body mass index quantitative trait locus 10 9.8
46 anxiety 9.8
47 body mass index quantitative trait locus 7 9.8
48 myocardial infarction 9.8
49 body mass index quantitative trait locus 14 9.8
50 dengue virus 9.8

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:

33 (show top 50) (show all 81)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 hallmark (90%) HP:0001249
2 global developmental delay 33 hallmark (90%) HP:0001263
3 microcephaly 33 hallmark (90%) HP:0000252
4 optic atrophy 33 hallmark (90%) HP:0000648
5 brachycephaly 33 hallmark (90%) HP:0000248
6 micrognathia 33 very rare (1%) HP:0000347
7 retrognathia 33 hallmark (90%) HP:0000278
8 respiratory distress 33 hallmark (90%) HP:0002098
9 specific learning disability 33 hallmark (90%) HP:0001328
10 arachnodactyly 33 hallmark (90%) HP:0001166
11 respiratory failure 33 hallmark (90%) HP:0002878
12 upslanted palpebral fissure 33 very rare (1%) HP:0000582
13 flat occiput 33 hallmark (90%) HP:0005469
14 long foot 33 hallmark (90%) HP:0001833
15 nystagmus 33 very rare (1%) HP:0000639
16 failure to thrive 33 very rare (1%) HP:0001508
17 smooth philtrum 33 frequent (33%) HP:0000319
18 feeding difficulties 33 frequent (33%) HP:0011968
19 strabismus 33 frequent (33%) HP:0000486
20 epicanthus 33 frequent (33%) HP:0000286
21 microdontia 33 frequent (33%) HP:0000691
22 growth delay 33 frequent (33%) HP:0001510
23 high, narrow palate 33 frequent (33%) HP:0002705
24 myopia 33 frequent (33%) HP:0000545
25 telecanthus 33 very rare (1%) HP:0000506
26 wide mouth 33 frequent (33%) HP:0000154
27 short philtrum 33 frequent (33%) HP:0000322
28 narrow face 33 very rare (1%) HP:0000275
29 long face 33 frequent (33%) HP:0000276
30 blepharophimosis 33 very rare (1%) HP:0000581
31 thin vermilion border 33 frequent (33%) HP:0000233
32 preauricular skin tag 33 very rare (1%) HP:0000384
33 microcornea 33 frequent (33%) HP:0000482
34 short palpebral fissure 33 frequent (33%) HP:0012745
35 muscle flaccidity 33 frequent (33%) HP:0010547
36 absent eyebrow 33 frequent (33%) HP:0002223
37 thin eyebrow 33 frequent (33%) HP:0045074
38 choroideremia 33 occasional (7.5%) HP:0001139
39 clitoral hypertrophy 33 occasional (7.5%) HP:0008665
40 chorioretinal dystrophy 33 occasional (7.5%) HP:0001135
41 hypertelorism 33 very rare (1%) HP:0000316
42 low-set ears 33 very rare (1%) HP:0000369
43 high palate 33 very rare (1%) HP:0000218
44 ptosis 33 very rare (1%) HP:0000508
45 constipation 33 very rare (1%) HP:0002019
46 depressed nasal bridge 33 very rare (1%) HP:0005280
47 anteverted nares 33 very rare (1%) HP:0000463
48 feeding difficulties in infancy 33 very rare (1%) HP:0008872
49 intellectual disability, severe 33 very rare (1%) HP:0010864
50 thin skin 33 very rare (1%) HP:0000963

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
myopia
telecanthus
blepharophimosis
more
Growth Other:
failure to thrive

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Growth Height:
short stature

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

Head And Neck Head:
microcephaly

Respiratory Larynx:
laryngomalacia

Head And Neck Mouth:
micrognathia
small mouth
palate anomalies

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

Genetic Tests for Kaufman Oculocerebrofacial Syndrome

Genetic tests related to Kaufman Oculocerebrofacial Syndrome:

# Genetic test Affiliating Genes
1 Kaufman Oculocerebrofacial Syndrome 30 UBE3B

Anatomical Context for Kaufman Oculocerebrofacial Syndrome

MalaCards organs/tissues related to Kaufman Oculocerebrofacial Syndrome:

42
Eye, Skin, Brain, Liver, Lung, Kidney, Bone

Publications for Kaufman Oculocerebrofacial Syndrome

Articles related to Kaufman Oculocerebrofacial Syndrome:

# Title Authors Year
1
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. ( 29160006 )
2018
2
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. ( 25691420 )
2015
3
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. ( 24615390 )
2014
4
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. ( 23687348 )
2013
5
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. ( 23200864 )
2012
6
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. ( 21567902 )
2011
7
Kaufman oculocerebrofacial syndrome in a girl of 15 years. ( 7573151 )
1995
8
Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. ( 8275567 )
1993
9
Kaufman oculocerebrofacial syndrome: case report. ( 112864 )
1979

Variations for Kaufman Oculocerebrofacial Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 UBE3B p.Gln727Pro VAR_069712 rs398123023

ClinVar genetic disease variations for Kaufman Oculocerebrofacial Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBE3B NM_183415.2(UBE3B): c.1741+2T> C single nucleotide variant Pathogenic rs398123020 GRCh37 Chromosome 12, 109947521: 109947521
2 UBE3B NM_183415.2(UBE3B): c.1741+2T> C single nucleotide variant Pathogenic rs398123020 GRCh38 Chromosome 12, 109509716: 109509716
3 UBE3B NM_130466.3(UBE3B): c.2223_2224delAG (p.Arg741Serfs) deletion Pathogenic rs398123021 GRCh37 Chromosome 12, 109959099: 109959100
4 UBE3B NM_130466.3(UBE3B): c.2223_2224delAG (p.Arg741Serfs) deletion Pathogenic rs398123021 GRCh38 Chromosome 12, 109521294: 109521295
5 UBE3B NM_130466.3(UBE3B): c.545-2A> G single nucleotide variant Pathogenic rs398123022 GRCh37 Chromosome 12, 109927722: 109927722
6 UBE3B NM_130466.3(UBE3B): c.545-2A> G single nucleotide variant Pathogenic rs398123022 GRCh38 Chromosome 12, 109489917: 109489917
7 UBE3B NM_130466.3(UBE3B): c.2180A> C (p.Gln727Pro) single nucleotide variant Pathogenic rs398123023 GRCh37 Chromosome 12, 109959056: 109959056
8 UBE3B NM_130466.3(UBE3B): c.2180A> C (p.Gln727Pro) single nucleotide variant Pathogenic rs398123023 GRCh38 Chromosome 12, 109521251: 109521251
9 UBE3B NM_130466.3(UBE3B): c.2990G> C (p.Arg997Pro) single nucleotide variant Pathogenic/Likely pathogenic rs539407162 GRCh37 Chromosome 12, 109971338: 109971338
10 UBE3B NM_130466.3(UBE3B): c.2990G> C (p.Arg997Pro) single nucleotide variant Pathogenic/Likely pathogenic rs539407162 GRCh38 Chromosome 12, 109533533: 109533533
11 UBE3B NM_130466.3(UBE3B): c.2568+1G> A single nucleotide variant Pathogenic rs1555269815 GRCh37 Chromosome 12, 109962309: 109962309
12 UBE3B NM_130466.3(UBE3B): c.2568+1G> A single nucleotide variant Pathogenic rs1555269815 GRCh38 Chromosome 12, 109524504: 109524504

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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