MCID: KFM001
MIFTS: 36

Kaufman Oculocerebrofacial Syndrome

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

Aliases & Classifications for Kaufman Oculocerebrofacial Syndrome

MalaCards integrated aliases for Kaufman Oculocerebrofacial Syndrome:

Name: Kaufman Oculocerebrofacial Syndrome 53 72 23 49 24 71 28 69
Blepharophimosis-Ptosis-Intellectual Disability Syndrome 53 24 71 13 69
Kos 53 49 24 71
Bpids 53 24 71
Severe Mental Retardation, Microcephaly, Long Narrow Face, Ocular Anomalies, and Long Thin Hands and Feet 49
Blepharophimosis-Ptosis-Intellectual Disability Syndrome; Bpids 53
Blepharophimosis-Ptosis-Mental Retardation Syndrome 71
Blepharophimosis-Ptosis-Intellectual Disability 23
Oculocerebrofacial Syndrome, Kaufman Type 24
Bpid Syndrome 71
Bpid 23

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
kaufman oculocerebrofacial syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kaufman Oculocerebrofacial Syndrome

NIH Rare Diseases : 49 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 platelet groups--ko system and kagami-ogata syndrome, and has symptoms including constipation, respiratory distress and high palate. An important gene associated with Kaufman Oculocerebrofacial Syndrome is UBE3B (Ubiquitin Protein Ligase E3B). Affiliated tissues include eye, skin and brain.

Genetics Home Reference : 24 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

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:

53
Head And Neck Eyes:
ptosis
nystagmus
strabismus
myopia
telecanthus
more
Head And Neck Head:
microcephaly
brachycephaly

Genitourinary External Genitalia Female:
clitoromegaly

Respiratory Larynx:
laryngeal stridor

Neurologic Central Nervous System:
hypotonia
mental retardation

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

Skeletal Feet:
metatarsus varus
long, thin feet

Skin Nails Hair Hair:
sparse eyebrows

Skeletal Spine:
ovoid vertebrae

Head And Neck Nose:
short nose

Head And Neck Face:
micrognathia
narrow face
long face
flat philtrum

Respiratory:
neonatal respiratory distress

Head And Neck Teeth:
diastema
caries

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

Head And Neck Ears:
preauricular tags

Abdomen Gastroin testinal:
severe constipation

Chest External Features:
bell-shaped chest


Clinical features from OMIM:

244450

Human phenotypes related to Kaufman Oculocerebrofacial Syndrome:

31 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 respiratory distress 31 hallmark (90%) HP:0002098
3 high palate 31 HP:0000218
4 ptosis 31 HP:0000508
5 nystagmus 31 frequent (33%) HP:0000639
6 intellectual disability 31 hallmark (90%) HP:0001249
7 failure to thrive 31 frequent (33%) HP:0001508
8 global developmental delay 31 hallmark (90%) HP:0001263
9 carious teeth 31 HP:0000670
10 short nose 31 HP:0003196
11 microcephaly 31 hallmark (90%) HP:0000252
12 smooth philtrum 31 frequent (33%) HP:0000319
13 optic atrophy 31 hallmark (90%) HP:0000648
14 brachycephaly 31 hallmark (90%) HP:0000248
15 micrognathia 31 hallmark (90%) HP:0000347
16 feeding difficulties 31 frequent (33%) HP:0011968
17 ovoid vertebral bodies 31 HP:0003300
18 retrognathia 31 hallmark (90%) HP:0000278
19 strabismus 31 frequent (33%) HP:0000486
20 epicanthus 31 frequent (33%) HP:0000286
21 microdontia 31 frequent (33%) HP:0000691
22 metatarsus adductus 31 HP:0001840
23 growth delay 31 frequent (33%) HP:0001510
24 specific learning disability 31 hallmark (90%) HP:0001328
25 high, narrow palate 31 frequent (33%) HP:0002705
26 myopia 31 frequent (33%) HP:0000545
27 telecanthus 31 frequent (33%) HP:0000506
28 wide mouth 31 frequent (33%) HP:0000154
29 short philtrum 31 frequent (33%) HP:0000322
30 clinodactyly of the 5th finger 31 HP:0004209
31 arachnodactyly 31 hallmark (90%) HP:0001166
32 narrow face 31 frequent (33%) HP:0000275
33 respiratory failure 31 hallmark (90%) HP:0002878
34 upslanted palpebral fissure 31 hallmark (90%) HP:0000582
35 long face 31 frequent (33%) HP:0000276
36 thin upper lip vermilion 31 HP:0000219
37 flat occiput 31 hallmark (90%) HP:0005469
38 blepharophimosis 31 frequent (33%) HP:0000581
39 thin vermilion border 31 frequent (33%) HP:0000233
40 preauricular skin tag 31 frequent (33%) HP:0000384
41 microcornea 31 frequent (33%) HP:0000482
42 choroideremia 31 occasional (7.5%) HP:0001139
43 single transverse palmar crease 31 HP:0000954
44 neonatal respiratory distress 31 HP:0002643
45 short palpebral fissure 31 frequent (33%) HP:0012745
46 optic disc pallor 31 HP:0000543
47 generalized hypotonia 31 HP:0001290
48 muscle flaccidity 31 frequent (33%) HP:0010547
49 absent eyebrow 31 frequent (33%) HP:0002223
50 bell-shaped thorax 31 HP:0001591

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 28 UBE3B

Anatomical Context for Kaufman Oculocerebrofacial Syndrome

MalaCards organs/tissues related to Kaufman Oculocerebrofacial Syndrome:

38
Eye, Skin, Brain

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:

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

ClinVar genetic disease variations for Kaufman Oculocerebrofacial Syndrome:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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