OES
MCID: OCL039
MIFTS: 52

Oculoectodermal Syndrome (OES)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Oculoectodermal Syndrome

MalaCards integrated aliases for Oculoectodermal Syndrome:

Name: Oculoectodermal Syndrome 57 12 20 58 72 15
Aplasia Cutis Congenita with Epibulbar Dermoids 57 20 72 44 70
Toriello-Lacassie-Droste Syndrome 12 58 72 29 6
Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome 12 58
Oculoectodermal Syndrome, Somatic 57 6
Oes 57 72
Toriello Lacassie Droste Syndrome 20
Oculo-Ectodermal Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
toriello-lacassie-droste syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation

Miscellaneous:
variable phenotype


HPO:

31
oculoectodermal syndrome:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Oculoectodermal Syndrome

OMIM® : 57 Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016). (600268) (Updated 05-Apr-2021)

MalaCards based summary : Oculoectodermal Syndrome, also known as aplasia cutis congenita with epibulbar dermoids, is related to encephalocraniocutaneous lipomatosis and ossifying fibroma. An important gene associated with Oculoectodermal Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. Affiliated tissues include breast, and related phenotypes are agenesis of corpus callosum and aplasia/hypoplasia of the skin

Disease Ontology : 12 An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has material basis in somatic mosaic mutation in KRAS on chromosome 12p12.1.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3339 Definition Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

UniProtKB/Swiss-Prot : 72 Oculoectodermal syndrome: A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.

Related Diseases for Oculoectodermal Syndrome

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

(show top 50) (show all 237)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 30.6 KRAS FGFR1
2 ossifying fibroma 30.0 KRAS FGFR1
3 lipomatosis 30.0 PIK3CA KRAS FGFR1
4 ras-associated autoimmune leukoproliferative disorder 29.9 NRAS KRAS HRAS
5 coloboma of macula 29.8 FREM2 FRAS1 FGFR1
6 juvenile myelomonocytic leukemia 29.8 NRAS KRAS HRAS
7 breast adenocarcinoma 29.2 PIK3CA KRAS AKT1
8 rasopathy 28.7 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
9 nevus, epidermal 28.5 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
10 strabismus 10.4
11 mechanical strabismus 10.4
12 aplasia cutis congenita, nonsyndromic 10.3
13 papillary adenoma 10.3 KRAS HRAS
14 hepatic flexure cancer 10.3 KRAS HRAS
15 trachea carcinoma in situ 10.3 KRAS HRAS
16 signet ring basal cell carcinoma 10.3 KRAS HRAS
17 cobblestone retinal degeneration 10.3 KRAS HRAS
18 immature teratoma of ovary 10.3 KRAS HRAS
19 pancreatic signet ring cell adenocarcinoma 10.3 KRAS HRAS
20 signet ring cell adenocarcinoma 10.3 KRAS HRAS
21 descending colon cancer 10.3 KRAS HRAS
22 ampulla of vater benign neoplasm 10.3 KRAS HRAS
23 transverse colon cancer 10.3 KRAS HRAS
24 periampullary adenoma 10.3 KRAS HRAS
25 bone giant cell sarcoma 10.3 KRAS HRAS
26 appendiceal neoplasm 10.3 KRAS HRAS
27 gallbladder benign neoplasm 10.3 KRAS HRAS
28 appendix adenocarcinoma 10.3 KRAS HRAS
29 mucinous lung adenocarcinoma 10.3 KRAS HRAS
30 wolffian duct adenocarcinoma 10.3 KRAS HRAS
31 noonan syndrome-like disorder with loose anagen hair 1 10.3 KRAS HRAS
32 noonan syndrome-like disorder with loose anagen hair 10.3 KRAS HRAS
33 myh-associated polyposis 10.3 KRAS HRAS
34 ascending colon cancer 10.3 KRAS HRAS
35 biliary tract benign neoplasm 10.3 KRAS HRAS
36 ovarian mucinous neoplasm 10.3 KRAS HRAS
37 malignant exocrine pancreas neoplasm 10.3 KRAS HRAS
38 pancreatic acinar cell adenocarcinoma 10.3 KRAS HRAS
39 paronychia 10.3 KRAS HRAS
40 appendix disease 10.3 KRAS HRAS
41 bile duct cysts 10.3 KRAS HRAS
42 lung carcinoma in situ 10.3 KRAS HRAS
43 small intestine adenocarcinoma 10.2 KRAS HRAS
44 appendix cancer 10.2 KRAS HRAS
45 duodenum adenocarcinoma 10.2 KRAS HRAS
46 pulmonary adenocarcinoma in situ 10.2 KRAS HRAS
47 laryngostenosis 10.2 FREM2 FRAS1
48 congenital symblepharon 10.2 FREM2 FRAS1
49 nasal cavity adenocarcinoma 10.2 KRAS HRAS
50 partial cryptophthalmia 10.2 FREM2 FRAS1

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



Diseases related to Oculoectodermal Syndrome

Symptoms & Phenotypes for Oculoectodermal Syndrome

Human phenotypes related to Oculoectodermal Syndrome:

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
3 absent septum pellucidum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001331
4 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
5 limbal dermoid 31 hallmark (90%) HP:0001140
6 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
7 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
8 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
9 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
10 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
11 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
12 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
13 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
14 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
15 aganglionic megacolon 58 31 frequent (33%) Frequent (79-30%) HP:0002251
16 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
17 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
18 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
19 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
20 abnormality of the ureter 58 31 frequent (33%) Frequent (79-30%) HP:0000069
21 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
22 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
23 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680
24 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
25 laryngeal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008749
26 hypotonia 31 frequent (33%) HP:0001252
27 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
28 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
29 abnormality of the bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0000014
30 epispadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000039
31 global developmental delay 31 occasional (7.5%) HP:0001263
32 depressed nasal bridge 31 occasional (7.5%) HP:0005280
33 wide nasal bridge 31 occasional (7.5%) HP:0000431
34 opacification of the corneal stroma 31 occasional (7.5%) HP:0007759
35 astigmatism 31 occasional (7.5%) HP:0000483
36 arachnoid cyst 31 occasional (7.5%) HP:0100702
37 parietal bossing 31 occasional (7.5%) HP:0000242
38 eyelid coloboma 31 occasional (7.5%) HP:0000625
39 nystagmus 31 HP:0000639
40 short neck 31 HP:0000470
41 muscular hypotonia 58 Frequent (79-30%)
42 abnormality of the cardiovascular system 58 Frequent (79-30%)
43 lymphedema 31 HP:0001004
44 atrial septal defect 31 HP:0001631
45 coarctation of aorta 31 HP:0001680
46 hypertrophic cardiomyopathy 31 HP:0001639
47 transient ischemic attack 31 HP:0002326
48 facial asymmetry 31 HP:0000324
49 patent ductus arteriosus 31 HP:0001643
50 cleft eyelid 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
proptosis
microcornea
astigmatism
anisometropia
more
Muscle Soft Tissue:
lymphedema

Head And Neck Face:
facial asymmetry
frontal parietal bossing (in some patients)
giant cell granuloma of the jaw

Chest Breasts:
supernumerary nipple

Genitourinary Bladder:
bladder exstrophy
rhabdosarcoma, embryonal

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

Cardiovascular Vascular:
moyamoya disease
transient ischemic attacks

Skeletal Skull:
giant cell granuloma of jaw

Head And Neck Neck:
short neck

Cardiovascular Heart:
atrial septal defect
hypertrophic cardiomyopathy
patent ductus arteriosus
coarctation of the aorta

Skeletal Limbs:
lower limb asymmetry
nonossifying fibromas of long bones

Skin Nails Hair Skin:
epidermal nevus
aplasia cutis congenita
cutaneous hyperpigmentation (in some patients)

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

Growth Other:
growth failure
left body hemihypertrophy

Head And Neck Head:
macrocephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
hyperactive behavior, mild

Clinical features from OMIM®:

600268 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Oculoectodermal Syndrome according to GeneCards Suite gene sharing:

26 (show top 50) (show all 51)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.53 HRAS KRAS PIK3CA
2 Decreased viability GR00055-A-2 10.53 HRAS KRAS PIK3CA
3 Decreased viability GR00055-A-3 10.53 KRAS
4 Decreased viability GR00106-A-0 10.53 KRAS
5 Decreased viability GR00221-A-1 10.53 HRAS KRAS PIK3CA AKT1 FGFR1 NRAS
6 Decreased viability GR00221-A-2 10.53 HRAS KRAS PIK3CA AKT1 FGFR1
7 Decreased viability GR00221-A-3 10.53 HRAS AKT1 NRAS
8 Decreased viability GR00221-A-4 10.53 PIK3CA AKT1
9 Decreased viability GR00249-S 10.53 AKT1
10 Decreased viability GR00301-A 10.53 KRAS
11 Decreased viability GR00381-A-1 10.53 KRAS
12 Decreased viability GR00386-A-1 10.53 FGFR1
13 Decreased viability GR00402-S-2 10.53 PIK3CA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.2 KRAS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.2 KRAS
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.2 KRAS
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.2 KRAS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.2 KRAS
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.2 KRAS
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 10.2 HRAS
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 10.2 KRAS
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-196 10.2 KRAS SLC45A2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.2 KRAS
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10.2 KRAS
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.2 KRAS
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.2 KRAS
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.2 HRAS
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.2 KRAS
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.2 KRAS
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.2 KRAS
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.2 KRAS
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.2 HRAS
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.2 KRAS
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.2 HRAS
35 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.55 FGFR1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.55 FGFR1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.55 FRAS1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.55 FRAS1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.55 FGFR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.55 FGFR1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.55 HRAS
42 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.55 FGFR1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.55 HRAS
44 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 FGFR1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.55 FGFR1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.55 FGFR1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 FRAS1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.55 FGFR1 FRAS1 HRAS
49 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.55 HRAS
50 Decreased cell migration GR00055-A-1 9.43 AKT1

MGI Mouse Phenotypes related to Oculoectodermal Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 AKT1 FGFR1 FRAS1 FREM2 HRAS KRAS
2 growth/size/body region MP:0005378 10.13 AKT1 FGFR1 FRAS1 FREM2 HRAS KRAS
3 integument MP:0010771 10.11 AKT1 FGFR1 FRAS1 FREM2 HRAS KRAS
4 mortality/aging MP:0010768 10.01 AKT1 FGFR1 FRAS1 FREM2 HRAS KRAS
5 craniofacial MP:0005382 10 FGFR1 FRAS1 FREM2 HRAS KRAS NRAS
6 embryo MP:0005380 9.99 AKT1 FGFR1 FREM2 KRAS NRAS PIK3CA
7 endocrine/exocrine gland MP:0005379 9.97 AKT1 FGFR1 HRAS KRAS NRAS PIK3CA
8 muscle MP:0005369 9.85 AKT1 FGFR1 FREM2 HRAS KRAS PIK3CA
9 limbs/digits/tail MP:0005371 9.83 FGFR1 FRAS1 FREM2 KRAS NRAS
10 no phenotypic analysis MP:0003012 9.73 FGFR1 FRAS1 HRAS KRAS NRAS PIK3CA
11 neoplasm MP:0002006 9.72 AKT1 HRAS KRAS NRAS PIK3CA
12 skeleton MP:0005390 9.56 AKT1 FGFR1 FRAS1 FREM2 HRAS KRAS
13 pigmentation MP:0001186 9.46 FREM2 KRAS NRAS SLC45A2
14 vision/eye MP:0005391 9.17 FGFR1 FRAS1 FREM2 KRAS NRAS PIK3CA

Drugs & Therapeutics for Oculoectodermal Syndrome

Search Clinical Trials , NIH Clinical Center for Oculoectodermal Syndrome

Cochrane evidence based reviews: aplasia cutis congenita with epibulbar dermoids

Genetic Tests for Oculoectodermal Syndrome

Genetic tests related to Oculoectodermal Syndrome:

# Genetic test Affiliating Genes
1 Toriello-Lacassie-Droste Syndrome 29 KRAS

Anatomical Context for Oculoectodermal Syndrome

MalaCards organs/tissues related to Oculoectodermal Syndrome:

40
Breast

Publications for Oculoectodermal Syndrome

Articles related to Oculoectodermal Syndrome:

(show all 25)
# Title Authors PMID Year
1
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. 57 6 61
30891959 2019
2
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. 61 57 6
26970110 2016
3
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 61 6 57
25808193 2015
4
Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. 61 57 6
25251940 2014
5
Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys. 57 6
8456858 1993
6
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies. 61 57
21337683 2011
7
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. 57 61
17963257 2007
8
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. 6
21063026 2011
9
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 6
17332249 2007
10
Oculo-ectodermal syndrome: is arachnoid cyst a common finding? 57
17159512 2007
11
Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? 57
16523517 2006
12
Oculo-ectodermal syndrome: a new tumour predisposition syndrome. 57
15057122 2004
13
Oculo-ectodermal syndrome: report of two further cases. 57
10767005 2000
14
Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome. 57
10532175 1999
15
Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome. 57
7864039 1994
16
Oculo-ectodermal syndrome: a new case. 57
7864049 1994
17
The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231. 6
3627975 1987
18
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation. 61
31633190 2020
19
Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome. 61
29923968 2018
20
Oculoectodermal syndrome: twentieth described case with new manifestations. 61
28300929 2016
21
OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS. 61
27192894 2016
22
Oculo-ectodermal syndrome: A case report and further delineation of the syndrome. 61
25745601 2014
23
Progressive growth in epibulbar complex choristomas: report of 2 cases and review of literature. 61
21885965 2011
24
Encephalocraniocutaneous lipomatosis. 61
19574261 2009
25
A new case of oculoectodermal syndrome. 61
16272058 2005

Variations for Oculoectodermal Syndrome

ClinVar genetic disease variations for Oculoectodermal Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRAS NM_033360.4(KRAS):c.57G>C (p.Leu19Phe) SNV Pathogenic 217822 rs121913538 GRCh37: 12:25398262-25398262
GRCh38: 12:25245328-25245328
2 KRAS NM_033360.4(KRAS):c.437C>T (p.Ala146Val) SNV Pathogenic 375962 rs1057519725 GRCh37: 12:25378561-25378561
GRCh38: 12:25225627-25225627
3 KRAS NM_033360.4(KRAS):c.436G>A (p.Ala146Thr) SNV Pathogenic 197243 rs121913527 GRCh37: 12:25378562-25378562
GRCh38: 12:25225628-25225628
4 KRAS NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) SNV Pathogenic 12580 rs112445441 GRCh37: 12:25398281-25398281
GRCh38: 12:25245347-25245347
5 NLRP5 NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) SNV Uncertain significance 222986 rs202181446 GRCh37: 19:56552341-56552341
GRCh38: 19:56040975-56040975
6 NLRP5 NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) SNV Uncertain significance 222985 rs200446614 GRCh37: 19:56544053-56544053
GRCh38: 19:56032687-56032687
7 CLUAP1 NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) SNV Uncertain significance 224333 rs751218423 GRCh37: 16:3573261-3573261
GRCh38: 16:3523261-3523261
8 KRAS NM_004985.5(KRAS):c.534_536del (p.Lys180del) Deletion Uncertain significance 931154 GRCh37: 12:25362760-25362762
GRCh38: 12:25209826-25209828

UniProtKB/Swiss-Prot genetic disease variations for Oculoectodermal Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 KRAS p.Gly13Asp VAR_016029 rs112445441
2 KRAS p.Ala146Thr VAR_036308 rs121913527
3 KRAS p.Leu19Phe VAR_083261 rs121913538
4 KRAS p.Ala146Val VAR_083262 rs105751972

Expression for Oculoectodermal Syndrome

Search GEO for disease gene expression data for Oculoectodermal Syndrome.

Pathways for Oculoectodermal Syndrome

Pathways related to Oculoectodermal Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 169)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 NRAS KRAS HRAS FREM2 FRAS1 FGFR1
2
Show member pathways
13.66 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
3
Show member pathways
13.52 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
4
Show member pathways
13.48 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
5
Show member pathways
13.45 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
6
Show member pathways
13.41 PIK3CA NRAS KRAS HRAS FREM2 FRAS1
7
Show member pathways
13.4 PIK3CA NRAS KRAS HRAS AKT1
8
Show member pathways
13.39 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
9
Show member pathways
13.37 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
10
Show member pathways
13.36 NRAS KRAS HRAS FGFR1 AKT1
11
Show member pathways
13.29 NRAS KRAS HRAS FGFR1 AKT1
12
Show member pathways
13.28 PIK3CA NRAS KRAS HRAS AKT1
13
Show member pathways
13.27 NRAS KRAS HRAS FGFR1 AKT1
14
Show member pathways
13.25 NRAS KRAS HRAS FGFR1 AKT1
15
Show member pathways
13.19 PIK3CA NRAS KRAS HRAS AKT1
16
Show member pathways
13.07 PIK3CA NRAS KRAS HRAS AKT1
17
Show member pathways
13.07 NRAS KRAS HRAS FGFR1 AKT1
18
Show member pathways
13.05 NRAS KRAS HRAS FREM2 FRAS1 FGFR1
19
Show member pathways
13.02 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
20
Show member pathways
13 NRAS KRAS HRAS AKT1
21
Show member pathways
12.98 PIK3CA NRAS KRAS HRAS AKT1
22
Show member pathways
12.96 NRAS KRAS HRAS AKT1
23
Show member pathways
12.95 PIK3CA NRAS KRAS HRAS AKT1
24
Show member pathways
12.94 PIK3CA NRAS KRAS HRAS AKT1
25
Show member pathways
12.93 PIK3CA NRAS KRAS HRAS AKT1
26
Show member pathways
12.91 PIK3CA NRAS KRAS HRAS FGFR1
27
Show member pathways
12.91 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
28
Show member pathways
12.9 NRAS KRAS HRAS AKT1
29
Show member pathways
12.9 PIK3CA NRAS KRAS HRAS AKT1
30
Show member pathways
12.9 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
31
Show member pathways
12.89 NRAS KRAS HRAS AKT1
32 12.88 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
33
Show member pathways
12.83 PIK3CA NRAS KRAS HRAS AKT1
34 12.82 NRAS KRAS HRAS FGFR1 AKT1
35
Show member pathways
12.81 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
36
Show member pathways
12.8 NRAS KRAS HRAS AKT1
37
Show member pathways
12.79 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
38
Show member pathways
12.78 PIK3CA KRAS HRAS AKT1
39
Show member pathways
12.78 PIK3CA NRAS KRAS HRAS AKT1
40
Show member pathways
12.78 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
41
Show member pathways
12.77 PIK3CA NRAS KRAS HRAS AKT1
42
Show member pathways
12.74 PIK3CA NRAS KRAS HRAS AKT1
43
Show member pathways
12.72 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
44 12.71 PIK3CA NRAS KRAS HRAS FGFR1
45
Show member pathways
12.7 NRAS KRAS HRAS AKT1
46
Show member pathways
12.7 PIK3CA NRAS KRAS HRAS AKT1
47
Show member pathways
12.69 NRAS KRAS HRAS AKT1
48
Show member pathways
12.69 PIK3CA NRAS KRAS HRAS AKT1
49
Show member pathways
12.67 PIK3CA NRAS KRAS HRAS AKT1
50
Show member pathways
12.66 PIK3CA NRAS KRAS HRAS AKT1

GO Terms for Oculoectodermal Syndrome

Cellular components related to Oculoectodermal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.61 SLC45A2 PIK3CA NRAS KRAS HRAS FREM2
2 plasma membrane GO:0005886 9.23 PIK3CA NRAS KRAS HRAS FREM2 FRAS1

Biological processes related to Oculoectodermal Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 KRAS HRAS FGFR1 AKT1
2 positive regulation of protein phosphorylation GO:0001934 9.73 KRAS HRAS AKT1
3 negative regulation of neuron apoptotic process GO:0043524 9.65 PIK3CA KRAS HRAS
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.58 NRAS KRAS HRAS
5 positive regulation of nitric-oxide synthase activity GO:0051000 9.55 KRAS AKT1
6 morphogenesis of an epithelium GO:0002009 9.54 FREM2 FRAS1
7 striated muscle cell differentiation GO:0051146 9.51 KRAS AKT1
8 regulation of long-term neuronal synaptic plasticity GO:0048169 9.49 KRAS HRAS
9 negative regulation of macroautophagy GO:0016242 9.46 PIK3CA AKT1
10 positive regulation of phospholipase C activity GO:0010863 9.43 HRAS FGFR1
11 liver development GO:0001889 9.43 PIK3CA KRAS HRAS
12 anoikis GO:0043276 9.37 PIK3CA AKT1
13 Ras protein signal transduction GO:0007265 9.33 NRAS KRAS HRAS
14 response to isolation stress GO:0035900 9.32 KRAS HRAS
15 MAPK cascade GO:0000165 9.26 NRAS KRAS HRAS FGFR1
16 positive regulation of MAP kinase activity GO:0043406 8.8 KRAS HRAS FGFR1

Molecular functions related to Oculoectodermal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.43 PIK3CA NRAS KRAS HRAS FGFR1 AKT1
2 GDP binding GO:0019003 8.8 NRAS KRAS HRAS

Sources for Oculoectodermal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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