KOS
MCID: KFM001
MIFTS: 37

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 57 76 24 53 25 75 29 6 40 73
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 57 25 75 13 40 73
Kos 57 53 25 75
Bpids 57 25 75
Severe Mental Retardation, Microcephaly, Long Narrow Face, Ocular Anomalies, and Long Thin Hands and Feet 53
Blepharophimosis-Ptosis-Intellectual Disability Syndrome; Bpids 57
Blepharophimosis-Ptosis-Mental Retardation Syndrome 75
Blepharophimosis-Ptosis-Intellectual Disability 24
Oculocerebrofacial Syndrome, Kaufman Type 25
Bpid Syndrome 75
Bpid 24

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
kaufman oculocerebrofacial syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kaufman Oculocerebrofacial Syndrome

NIH Rare Diseases : 53 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 hypertelorism and low-set ears

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).

UniProtKB/Swiss-Prot : 75 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 : 76 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 72)
# Related Disease Score Top Affiliating Genes
1 platelet groups--ko system 12.2
2 kagami-ogata syndrome 11.1
3 varicose veins 11.0
4 fanconi anemia, complementation group a 11.0
5 bronchopulmonary dysplasia 11.0
6 coenzyme q10 deficiency disease 11.0
7 cysticercosis 11.0
8 fanconi syndrome 11.0
9 disseminated intravascular coagulation 11.0
10 coccidioidomycosis 11.0
11 choline deficiency disease 11.0
12 narcolepsy 11.0
13 alacrima, achalasia, and mental retardation syndrome 10.4
14 ptosis 10.4
15 blepharophimosis 10.4
16 adamantinoma of long bones 10.0
17 fragile x syndrome 10.0
18 adenocarcinoma 10.0
19 herpes simplex 10.0
20 giant axonal neuropathy 1, autosomal recessive 10.0
21 biliary atresia 10.0
22 axonal neuropathy 10.0
23 neuropathy 10.0
24 giant axonal neuropathy 10.0
25 aortic aneurysm, familial abdominal, 1 9.8
26 atherosclerosis susceptibility 9.8
27 gilles de la tourette syndrome 9.8
28 osteoporosis 9.8
29 small cell cancer of the lung 9.8
30 lung cancer 9.8
31 disorganization, mouse, homolog of 9.8
32 keratoconus posticus circumscriptus 9.8
33 canavan disease 9.8
34 body mass index quantitative trait locus 11 9.8
35 aging 9.8
36 brittle bone disorder 9.8
37 body mass index quantitative trait locus 10 9.8
38 body mass index quantitative trait locus 14 9.8
39 dengue virus 9.8
40 body mass index quantitative trait locus 18 9.8
41 al-raqad syndrome 9.8
42 body mass index quantitative trait locus 19 9.8
43 burns 9.8
44 ichthyosis lamellar 1 9.8
45 osteoarthritis 9.8
46 polycystic ovary syndrome 9.8
47 spinal muscular atrophy 9.8
48 vitamin b12 deficiency 9.8
49 heavy chain disease 9.8
50 colitis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Kaufman Oculocerebrofacial Syndrome:

32 (show top 50) (show all 81)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 very rare (1%) HP:0000316
2 low-set ears 32 very rare (1%) HP:0000369
3 high palate 32 very rare (1%) HP:0000218
4 ptosis 32 very rare (1%) HP:0000508
5 nystagmus 32 very rare (1%) HP:0000639
6 intellectual disability 32 hallmark (90%) HP:0001249
7 failure to thrive 32 very rare (1%) HP:0001508
8 constipation 32 very rare (1%) HP:0002019
9 global developmental delay 32 hallmark (90%) HP:0001263
10 depressed nasal bridge 32 very rare (1%) HP:0005280
11 carious teeth 32 HP:0000670
12 short nose 32 HP:0003196
13 microcephaly 32 hallmark (90%) HP:0000252
14 smooth philtrum 32 frequent (33%) HP:0000319
15 anteverted nares 32 very rare (1%) HP:0000463
16 optic atrophy 32 hallmark (90%) HP:0000648
17 feeding difficulties in infancy 32 very rare (1%) HP:0008872
18 brachycephaly 32 hallmark (90%) HP:0000248
19 intellectual disability, severe 32 very rare (1%) HP:0010864
20 micrognathia 32 very rare (1%) HP:0000347
21 feeding difficulties 32 frequent (33%) HP:0011968
22 ovoid vertebral bodies 32 HP:0003300
23 retrognathia 32 hallmark (90%) HP:0000278
24 strabismus 32 frequent (33%) HP:0000486
25 respiratory distress 32 hallmark (90%) HP:0002098
26 epicanthus 32 frequent (33%) HP:0000286
27 thin skin 32 very rare (1%) HP:0000963
28 microdontia 32 frequent (33%) HP:0000691
29 absent speech 32 very rare (1%) HP:0001344
30 metatarsus adductus 32 HP:0001840
31 growth delay 32 frequent (33%) HP:0001510
32 specific learning disability 32 hallmark (90%) HP:0001328
33 high, narrow palate 32 frequent (33%) HP:0002705
34 myopia 32 frequent (33%) HP:0000545
35 atrial septal defect 32 very rare (1%) HP:0001631
36 coarctation of aorta 32 HP:0001680
37 abnormality of the pinna 32 HP:0000377
38 ventriculomegaly 32 HP:0002119
39 motor delay 32 very rare (1%) HP:0001270
40 telecanthus 32 very rare (1%) HP:0000506
41 wide mouth 32 frequent (33%) HP:0000154
42 short philtrum 32 frequent (33%) HP:0000322
43 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
44 arachnodactyly 32 hallmark (90%) HP:0001166
45 narrow face 32 very rare (1%) HP:0000275
46 respiratory failure 32 hallmark (90%) HP:0002878
47 narrow mouth 32 very rare (1%) HP:0000160
48 upslanted palpebral fissure 32 very rare (1%) HP:0000582
49 long face 32 frequent (33%) HP:0000276
50 ventricular septal defect 32 HP:0001629

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 29 UBE3B

Anatomical Context for Kaufman Oculocerebrofacial Syndrome

MalaCards organs/tissues related to Kaufman Oculocerebrofacial Syndrome:

41
Eye, Skin, Brain, Kidney, Lung, Bone, Heart

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
Kaufman oculocerebrofacial syndrome in a girl of 15 years. ( 7573151 )
1995
6
Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. ( 8275567 )
1993
7
Kaufman Oculocerebrofacial Syndrome ( 27763745 )
1993
8
Kaufman oculocerebrofacial syndrome: case report. ( 112864 )
1979

Variations for Kaufman Oculocerebrofacial Syndrome

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

75
# 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 GRCh37 Chromosome 12, 109962309: 109962309
12 UBE3B NM_130466.3(UBE3B): c.2568+1G> A single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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