MCID: KFM001
MIFTS: 33

Kaufman Oculocerebrofacial Syndrome

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

Aliases & Classifications for Kaufman Oculocerebrofacial Syndrome

MalaCards integrated aliases for Kaufman Oculocerebrofacial Syndrome:

Name: Kaufman Oculocerebrofacial Syndrome 54 23 50 24 25 71 29 69
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 25 71 13 69
Kos 50 24 25 71
Oculocerebrofacial Syndrome, Kaufman Type 25 56
Bpids 25 71
Severe Mental Retardation, Microcephaly, Long Narrow Face, Ocular Anomalies, and Long Thin Hands and Feet 50
Blepharophimosis-Ptosis-Mental Retardation Syndrome 71
Blepharophimosis-Ptosis-Intellectual Disability 23
Bpid Syndrome 71
Bpid 23

Characteristics:

Orphanet epidemiological data:

56
oculocerebrofacial syndrome, kaufman type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
kaufman oculocerebrofacial syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kaufman Oculocerebrofacial Syndrome

NIH Rare Diseases : 50 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. last updated: 10/22/2006

MalaCards based summary : Kaufman Oculocerebrofacial Syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is related to intellectual disability and ptosis, and has symptoms including nystagmus, strabismus and wide mouth. An important gene associated with Kaufman Oculocerebrofacial Syndrome is UBE3B (Ubiquitin Protein Ligase E3B). Affiliated tissues include eye, skin and brain.

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 : 71 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 : 72 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 all 29)
id Related Disease Score Top Affiliating Genes
1 intellectual disability 10.2
2 ptosis 10.2
3 blepharophimosis 10.2
4 biliary atresia 9.7
5 fragile x syndrome 9.7
6 herpes simplex 9.7
7 atherosclerosis 9.7
8 diabetic angiopathy 9.6
9 mitochondrial cardiomyopathy 9.6
10 ichthyosis 9.6
11 arteriosclerosis 9.6
12 adenocarcinoma 9.6
13 breast cancer 9.6
14 infertility 9.6
15 bacteremia 9.6
16 axonal neuropathy 9.6
17 osteoporosis 9.6
18 muscular atrophy 9.6
19 canavan disease 9.6
20 lung disease 9.6
21 neuropathy 9.6
22 spinal muscular atrophy 9.6
23 diastolic heart failure 9.6
24 vitamin b12 deficiency 9.6
25 giant axonal neuropathy 9.6
26 nonalcoholic steatohepatitis 9.6
27 autosomal recessive congenital ichthyosis 9.6
28 urachal adenocarcinoma 9.6
29 cardiomyopathy 9.6

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:

54

Head And Neck- Mouth:
high-arched palate
large mouth
thin upper lip

Head And Neck- Eyes:
nystagmus
strabismus
myopia
ptosis
epicanthal folds
more
Head And Neck- Face:
long face
flat philtrum
micrognathia
narrow face

Genitourinary- External Genitalia Female:
clitoromegaly

Chest- External Features:
bell-shaped chest

Head And Neck- Teeth:
caries
diastema

Skin Nails & Hair- Hair:
sparse eyebrows

Respiratory:
neonatal respiratory distress

Skeletal- Spine:
ovoid vertebrae

Neurologic- Central Nervous System:
hypotonia
mental retardation

Head And Neck- Head:
microcephaly
brachycephaly

Head And Neck- Nose:
short nose

Skeletal- Hands:
fifth finger clinodactyly
transverse palmar creases
long, thin hands

Skeletal- Feet:
metatarsus varus
long, thin feet

Head And Neck- Ears:
preauricular tags

Abdomen- Gastroin testinal:
severe constipation

Respiratory- Larynx:
laryngeal stridor


Clinical features from OMIM:

244450

Human phenotypes related to Kaufman Oculocerebrofacial Syndrome:

32 (show all 37)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 strabismus 32 HP:0000486
3 wide mouth 32 HP:0000154
4 myopia 32 HP:0000545
5 ptosis 32 HP:0000508
6 microcephaly 32 HP:0000252
7 long face 32 HP:0000276
8 micrognathia 32 HP:0000347
9 short nose 32 HP:0003196
10 microcornea 32 HP:0000482
11 telecanthus 32 HP:0000506
12 intellectual disability 32 HP:0001249
13 optic disc pallor 32 HP:0000543
14 constipation 32 HP:0002019
15 brachycephaly 32 HP:0000248
16 narrow face 32 HP:0000275
17 high palate 32 HP:0000218
18 smooth philtrum 32 HP:0000319
19 blepharophimosis 32 HP:0000581
20 epicanthus 32 HP:0000286
21 muscular hypotonia 32 HP:0001252
22 bell-shaped thorax 32 HP:0001591
23 metatarsus adductus 32 HP:0001840
24 ovoid vertebral bodies 32 HP:0003300
25 clitoral hypertrophy 32 HP:0008665
26 preauricular skin tag 32 HP:0000384
27 single transverse palmar crease 32 HP:0000954
28 neonatal respiratory distress 32 HP:0002643
29 thin upper lip vermilion 32 HP:0000219
30 carious teeth 32 HP:0000670
31 diastema 32 HP:0000699
32 laryngeal stridor 32 HP:0006511
33 clinodactyly of the 5th finger 32 HP:0004209
34 upslanted palpebral fissure 32 HP:0000582
35 long palm 32 HP:0011302
36 sparse and thin eyebrow 32 HP:0000535
37 narrow palm 32 HP:0004283

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:

id Genetic test Affiliating Genes
1 Kaufman Oculocerebrofacial Syndrome 29 24 UBE3B

Anatomical Context for Kaufman Oculocerebrofacial Syndrome

MalaCards organs/tissues related to Kaufman Oculocerebrofacial Syndrome:

39
Eye, Skin, Brain

Publications for Kaufman Oculocerebrofacial Syndrome

Articles related to Kaufman Oculocerebrofacial Syndrome:

id Title Authors Year
1
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. ( 25691420 )
2015
2
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. ( 24615390 )
2014
3
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. ( 23687348 )
2013
4
Kaufman oculocerebrofacial syndrome in a girl of 15 years. ( 7573151 )
1995
5
Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. ( 8275567 )
1993
6
Kaufman Oculocerebrofacial Syndrome ( 27763745 )
1993
7
Kaufman oculocerebrofacial syndrome: case report. ( 112864 )
1979

Variations for Kaufman Oculocerebrofacial Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 UBE3B p.Gln727Pro VAR_069712 rs398123023

ClinVar genetic disease variations for Kaufman Oculocerebrofacial Syndrome:

6
id 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_130466.3(UBE3B): c.2223_2224delAG (p.Arg741Serfs) deletion Pathogenic rs398123021 GRCh37 Chromosome 12, 109959099: 109959100
3 UBE3B NM_130466.3(UBE3B): c.545-2A> G single nucleotide variant Pathogenic rs398123022 GRCh37 Chromosome 12, 109927722: 109927722
4 UBE3B NM_130466.3(UBE3B): c.2180A> C (p.Gln727Pro) single nucleotide variant Pathogenic rs398123023 GRCh37 Chromosome 12, 109959056: 109959056

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....