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OES
MCID: OCL039
MIFTS: 33

Oculoectodermal Syndrome (OES)

Categories: Fetal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Oculoectodermal Syndrome

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MalaCards integrated aliases for Oculoectodermal Syndrome:

Name: Oculoectodermal Syndrome 57 53 59 29 6
Aplasia Cutis Congenita with Epibulbar Dermoids 57 53 73
Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome 59
Toriello Lacassie Droste Syndrome 53
Toriello-Lacassie-Droste Syndrome 59
Oculo-Ectodermal Syndrome 53
Oes 57

Characteristics:

Orphanet epidemiological data:

59
toriello-lacassie-droste syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
variable phenotype

Inheritance:
?autosomal dominant


HPO:

32
oculoectodermal syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Oculoectodermal Syndrome

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3339Disease definitionOculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.Visit the Orphanet disease page for more resources.

MalaCards based summary : Oculoectodermal Syndrome, also known as aplasia cutis congenita with epibulbar dermoids, is related to aplasia cutis congenita and encephalocraniocutaneous lipomatosis. An important gene associated with Oculoectodermal Syndrome is CLUAP1 (Clusterin Associated Protein 1). Affiliated tissues include skin, and related phenotypes are macrocephaly and agenesis of corpus callosum

Description from OMIM: 600268
Sources

Related Diseases for Oculoectodermal Syndrome

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Diseases related to Oculoectodermal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita 10.4
2 encephalocraniocutaneous lipomatosis 10.2
3 lipomatosis 10.2
4 cystic fibrosis 10.1
5 arachnoid cysts 10.1
6 moyamoya disease 1 10.0
7 alopecia 10.0
8 aortic coarctation 10.0
9 adamantinoma of long bones 10.0
10 williams-beuren syndrome 10.0
11 retinitis pigmentosa 10.0
12 thrombocytopenia 10.0
13 bronchopneumonia 10.0
14 pneumonia 10.0
15 posttransplant acute limbic encephalitis 10.0
16 segmental odontomaxillary dysplasia 10.0

Graphical network of the top 20 diseases related to Oculoectodermal Syndrome:



Diseases related to Oculoectodermal Syndrome
Sources

Symptoms & Phenotypes for Oculoectodermal Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
lymphedema

Skeletal Limbs:
lower limb asymmetry

Genitourinary Bladder:
bladder exstrophy
rhabdosarcoma, embryonal

Head And Neck Nose:
flat nasal bridge (in some patients)
broad nasal bridge (in some patients)

Neurologic Central Nervous System:
epilepsy
developmental delay (in some patients)
arachnoid cyst (in some patients)
moderate learning difficulties

Head And Neck Head:
macrocephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
hyperactive behavior, mild

Head And Neck Eyes:
proptosis
astigmatism
epicanthal folds
eyelid coloboma
strabismus (in some patients)
more
Skin Nails Hair Skin:
epidermal nevus
aplasia cutis congenita
cutaneous hyperpigmentation (in some patients)

Cardiovascular Heart:
coarctation of the aorta

Growth Other:
growth failure

Cardiovascular Vascular:
moyamoya disease
transient ischemic attacks

Head And Neck Face:
frontal parietal bossing (in some patients)


Clinical features from OMIM:

600268

Human phenotypes related to Oculoectodermal Syndrome:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
5 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
6 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999
7 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
8 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
9 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
10 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
11 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
12 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
13 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
14 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
15 aganglionic megacolon 59 32 frequent (33%) Frequent (79-30%) HP:0002251
16 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
17 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
18 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
19 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
20 abnormality of the bladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0000014
21 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
22 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
23 absent septum pellucidum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001331
24 epibulbar dermoid 59 32 hallmark (90%) Very frequent (99-80%) HP:0001140
25 abnormality of the ureter 59 32 frequent (33%) Frequent (79-30%) HP:0000069
26 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
27 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
28 abnormality of cardiovascular system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030680
29 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
30 laryngeal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008749
31 seizures 32 HP:0001250
32 global developmental delay 32 occasional (7.5%) HP:0001263
33 depressed nasal bridge 32 occasional (7.5%) HP:0005280
34 wide nasal bridge 32 occasional (7.5%) HP:0000431
35 abnormality of the cardiovascular system 59 Frequent (79-30%)
36 transient ischemic attack 32 HP:0002326
37 opacification of the corneal stroma 32 occasional (7.5%) HP:0007759
38 abnormality of nervous system morphology 59 Very frequent (99-80%)
39 lymphedema 32 HP:0001004
40 coarctation of aorta 32 HP:0001680
41 lower limb asymmetry 32 HP:0100559
42 abnormality of the penis 59 Occasional (29-5%)
43 astigmatism 32 occasional (7.5%) HP:0000483
44 cleft eyelid 59 Occasional (29-5%)
45 hyperactivity 32 HP:0000752
46 epidermal nevus 32 HP:0010816
47 abnormality of the conjunctiva 59 Very frequent (99-80%)
48 hyperpigmentation of the skin 32 HP:0000953
49 arachnoid cyst 32 occasional (7.5%) HP:0100702
50 aplasia cutis congenita 32 HP:0001057

MGI Mouse Phenotypes related to Oculoectodermal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.8 CLUAP1 KRAS NLRP5
Sources

Drugs & Therapeutics for Oculoectodermal Syndrome

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Search Clinical Trials , NIH Clinical Center for Oculoectodermal Syndrome

Sources

Genetic Tests for Oculoectodermal Syndrome

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Genetic tests related to Oculoectodermal Syndrome:

# Genetic test Affiliating Genes
1 Oculoectodermal Syndrome 29
Sources

Anatomical Context for Oculoectodermal Syndrome

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MalaCards organs/tissues related to Oculoectodermal Syndrome:

41
Skin
Sources

Publications for Oculoectodermal Syndrome

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Articles related to Oculoectodermal Syndrome:

# Title Authors Year
1
Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome. ( 29923968 )
2018
2
Oculoectodermal syndrome: twentieth described case with new manifestations. ( 28300929 )
2016
3
OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS. ( 27192894 )
2016
4
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. ( 26970110 )
2016
5
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. ( 25808193 )
2015
6
Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum. ( 25251940 )
2014
7
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies. ( 21337683 )
2011
8
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. ( 17963257 )
2007
9
A new case of oculoectodermal syndrome. ( 16272058 )
2005
Sources

Variations for Oculoectodermal Syndrome

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ClinVar genetic disease variations for Oculoectodermal Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.57G> C (p.Leu19Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs121913538 GRCh38 Chromosome 12, 25245328: 25245328
2 KRAS NM_004985.4(KRAS): c.57G> C (p.Leu19Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs121913538 GRCh37 Chromosome 12, 25398262: 25398262
3 NLRP5 NM_153447.4(NLRP5): c.2353C> T (p.Gln785Ter) single nucleotide variant Uncertain significance rs200446614 GRCh37 Chromosome 19, 56544053: 56544053
4 NLRP5 NM_153447.4(NLRP5): c.2353C> T (p.Gln785Ter) single nucleotide variant Uncertain significance rs200446614 GRCh38 Chromosome 19, 56032687: 56032687
5 NLRP5 NM_153447.4(NLRP5): c.2840T> C (p.Leu947Pro) single nucleotide variant Uncertain significance rs202181446 GRCh38 Chromosome 19, 56040975: 56040975
6 NLRP5 NM_153447.4(NLRP5): c.2840T> C (p.Leu947Pro) single nucleotide variant Uncertain significance rs202181446 GRCh37 Chromosome 19, 56552341: 56552341
7 CLUAP1 NM_015041.2(CLUAP1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs751218423 GRCh37 Chromosome 16, 3573261: 3573261
8 CLUAP1 NM_015041.2(CLUAP1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs751218423 GRCh38 Chromosome 16, 3523261: 3523261
Sources

Expression for Oculoectodermal Syndrome

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Search GEO for disease gene expression data for Oculoectodermal Syndrome.
Sources

Pathways for Oculoectodermal Syndrome

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GO Terms for Oculoectodermal Syndrome

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Sources for Oculoectodermal Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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