MCID: KFM001
MIFTS: 36

Kaufman Oculocerebrofacial Syndrome

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

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.

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).

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

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 74)
# 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 muscular hypotonia 32 HP:0001252
8 failure to thrive 32 very rare (1%) HP:0001508
9 constipation 32 very rare (1%) HP:0002019
10 global developmental delay 32 hallmark (90%) HP:0001263
11 depressed nasal bridge 32 very rare (1%) HP:0005280
12 carious teeth 32 HP:0000670
13 short nose 32 HP:0003196
14 microcephaly 32 hallmark (90%) HP:0000252
15 smooth philtrum 32 frequent (33%) HP:0000319
16 anteverted nares 32 very rare (1%) HP:0000463
17 optic atrophy 32 hallmark (90%) HP:0000648
18 feeding difficulties in infancy 32 very rare (1%) HP:0008872
19 brachycephaly 32 hallmark (90%) HP:0000248
20 intellectual disability, severe 32 very rare (1%) HP:0010864
21 micrognathia 32 very rare (1%) HP:0000347
22 feeding difficulties 32 frequent (33%) HP:0011968
23 ovoid vertebral bodies 32 HP:0003300
24 retrognathia 32 hallmark (90%) HP:0000278
25 strabismus 32 frequent (33%) HP:0000486
26 respiratory distress 32 hallmark (90%) HP:0002098
27 epicanthus 32 frequent (33%) HP:0000286
28 thin skin 32 very rare (1%) HP:0000963
29 microdontia 32 frequent (33%) HP:0000691
30 absent speech 32 very rare (1%) HP:0001344
31 metatarsus adductus 32 HP:0001840
32 growth delay 32 frequent (33%) HP:0001510
33 specific learning disability 32 hallmark (90%) HP:0001328
34 high, narrow palate 32 frequent (33%) HP:0002705
35 myopia 32 frequent (33%) HP:0000545
36 atrial septal defect 32 very rare (1%) HP:0001631
37 telecanthus 32 very rare (1%) HP:0000506
38 wide mouth 32 frequent (33%) HP:0000154
39 short philtrum 32 frequent (33%) HP:0000322
40 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
41 arachnodactyly 32 hallmark (90%) HP:0001166
42 narrow face 32 very rare (1%) HP:0000275
43 respiratory failure 32 hallmark (90%) HP:0002878
44 narrow mouth 32 very rare (1%) HP:0000160
45 upslanted palpebral fissure 32 very rare (1%) HP:0000582
46 long face 32 frequent (33%) HP:0000276
47 recurrent infections 32 very rare (1%) HP:0002719
48 thin upper lip vermilion 32 HP:0000219
49 flat occiput 32 hallmark (90%) HP:0005469
50 blepharophimosis 32 very rare (1%) HP:0000581

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, Pituitary

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 16)
# 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.1A> G (p.Met1Val) single nucleotide variant no interpretation for the single variant rs672601304 GRCh38 Chromosome 12, 109483552: 109483552
10 UBE3B NM_130466.3(UBE3B): c.1A> G (p.Met1Val) single nucleotide variant no interpretation for the single variant rs672601304 GRCh37 Chromosome 12, 109921357: 109921357
11 UBE3B NM_130466.3(UBE3B): c.1773delC (p.Gln592Serfs) deletion no interpretation for the single variant rs672601305 GRCh38 Chromosome 12, 109510375: 109510375
12 UBE3B NM_130466.3(UBE3B): c.1773delC (p.Gln592Serfs) deletion no interpretation for the single variant rs672601305 GRCh37 Chromosome 12, 109948180: 109948180
13 UBE3B NM_130466.3(UBE3B): c.2990G> C (p.Arg997Pro) single nucleotide variant Pathogenic/Likely pathogenic rs539407162 GRCh37 Chromosome 12, 109971338: 109971338
14 UBE3B NM_130466.3(UBE3B): c.2990G> C (p.Arg997Pro) single nucleotide variant Pathogenic/Likely pathogenic rs539407162 GRCh38 Chromosome 12, 109533533: 109533533
15 UBE3B NM_130466.3(UBE3B): c.2568+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 12, 109962309: 109962309
16 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
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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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