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MCID: OCL039
MIFTS: 32

Oculoectodermal Syndrome

Categories: Rare diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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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, nonsyndromic and aplasia cutis congenita. An important gene associated with Oculoectodermal Syndrome is CLUAP1 (Clusterin Associated Protein 1). Affiliated tissues include skin, and related phenotypes are short palm and laryngeal hypoplasia

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 11)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita, nonsyndromic 10.2
2 aplasia cutis congenita 10.2
3 encephalocraniocutaneous lipomatosis 10.0
4 lipomatosis 10.0
5 williams-beuren syndrome 9.9
6 cystic fibrosis 9.9
7 thrombocytopenia 9.9
8 moyamoya disease 1 9.8
9 alopecia 9.8
10 ossifying fibroma 9.8
11 aortic coarctation 9.8

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 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
2 laryngeal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008749
3 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
4 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
5 abnormality of cardiovascular system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030680
6 abnormality of the bladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0000014
7 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
8 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
9 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999
10 epibulbar dermoid 59 32 hallmark (90%) Very frequent (99-80%) HP:0001140
11 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
12 absent septum pellucidum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001331
13 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
14 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
15 abnormality of the ureter 59 32 frequent (33%) Frequent (79-30%) HP:0000069
16 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
17 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
18 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
19 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
20 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
21 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
22 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
23 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
24 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
25 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
26 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
27 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
28 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
29 aganglionic megacolon 59 32 frequent (33%) Frequent (79-30%) HP:0002251
30 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
31 abnormality of the penis 59 Occasional (29-5%)
32 cleft eyelid 59 Occasional (29-5%)
33 abnormality of the conjunctiva 59 Very frequent (99-80%)
34 abnormality of nervous system morphology 59 Very frequent (99-80%)
35 abnormality of the ear 59 Frequent (79-30%)
36 abnormality of the cardiovascular system 59 Frequent (79-30%)
37 parietal bossing 32 occasional (7.5%) HP:0000242
38 wide nasal bridge 32 occasional (7.5%) HP:0000431
39 astigmatism 32 occasional (7.5%) HP:0000483
40 eyelid coloboma 32 occasional (7.5%) HP:0000625
41 hyperactivity 32 HP:0000752
42 hyperpigmentation of the skin 32 HP:0000953
43 lymphedema 32 HP:0001004
44 aplasia cutis congenita 32 HP:0001057
45 seizures 32 HP:0001250
46 global developmental delay 32 occasional (7.5%) HP:0001263
47 coarctation of aorta 32 HP:0001680
48 transient ischemic attack 32 HP:0002326
49 bladder exstrophy 32 HP:0002836
50 depressed nasal bridge 32 occasional (7.5%) HP:0005280

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.
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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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