OES
MCID: OCL039
MIFTS: 49

Oculoectodermal Syndrome (OES)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Oculoectodermal Syndrome

MalaCards integrated aliases for Oculoectodermal Syndrome:

Name: Oculoectodermal Syndrome 57 11 19 58 73 14
Aplasia Cutis Congenita with Epibulbar Dermoids 57 19 73 43 71
Toriello-Lacassie-Droste Syndrome 11 58 73 28 5
Oculoectodermal Syndrome, Somatic 57 5 38
Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome 11 58
Oes 57 73
Toriello Lacassie Droste Syndrome 19
Oculo-Ectodermal Syndrome 19

Characteristics:


Inheritance:

Oculoectodermal Syndrome: Somatic mutation 57
Toriello-Lacassie-Droste Syndrome: Autosomal dominant,Autosomal recessive 58

Prevelance:

Toriello-Lacassie-Droste Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Toriello-Lacassie-Droste Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype


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 08-Dec-2022)

MalaCards based summary: Oculoectodermal Syndrome, also known as aplasia cutis congenita with epibulbar dermoids, is related to encephalocraniocutaneous lipomatosis and lipomatosis. An important gene associated with Oculoectodermal Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Nervous system development. Affiliated tissues include skin and breast, and related phenotypes are agenesis of corpus callosum and aplasia/hypoplasia of the skin

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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: 19 Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

Orphanet: 58 A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital.

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 206)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 30.8 KRAS FGFR1
2 lipomatosis 30.7 KRAS FGFR1
3 nevus, epidermal 30.2 KRAS HRAS FGFR1
4 ras-associated autoimmune leukoproliferative disorder 30.2 KRAS HRAS
5 schimmelpenning-feuerstein-mims syndrome 30.0 KRAS HRAS FGFR1
6 rasopathy 29.9 SH3BP2 KRAS HRAS FGFR1
7 ossifying fibroma 29.2 USP6 SH3BP2 H3-3B H3-3A
8 strabismus 10.4
9 aplasia cutis congenita 10.4
10 global developmental delay, lung cysts, overgrowth, and wilms tumor 10.4
11 trachea carcinoma in situ 10.3 KRAS HRAS
12 common bile duct neoplasm 10.3 KRAS HRAS
13 ampulla of vater benign neoplasm 10.3 KRAS HRAS
14 bladder urachal carcinoma 10.3 KRAS HRAS
15 hepatic flexure cancer 10.3 KRAS HRAS
16 vaginal carcinosarcoma 10.3 KRAS HRAS
17 urachus cancer 10.3 KRAS HRAS
18 adenosquamous lung carcinoma 10.3 KRAS HRAS
19 descending colon cancer 10.3 KRAS HRAS
20 mucinous intrahepatic cholangiocarcinoma 10.3 KRAS HRAS
21 sigmoid neoplasm 10.3 KRAS HRAS
22 appendiceal neoplasm 10.2 KRAS HRAS
23 pancreatic mucinous cystadenoma 10.2 KRAS HRAS
24 acneiform dermatitis 10.2 KRAS HRAS
25 transverse colon cancer 10.2 KRAS HRAS
26 noonan syndrome-like disorder with loose anagen hair 1 10.2 KRAS HRAS
27 liver angiosarcoma 10.2 KRAS HRAS
28 ascending colon cancer 10.2 KRAS HRAS
29 mucinous lung adenocarcinoma 10.2 KRAS HRAS
30 cystadenofibroma 10.2 KRAS HRAS
31 endosalpingiosis 10.2 KRAS HRAS
32 ovarian mucinous neoplasm 10.2 KRAS HRAS
33 appendix adenocarcinoma 10.2 KRAS HRAS
34 large cell carcinoma with rhabdoid phenotype 10.2 KRAS HRAS
35 pancreatic signet ring cell adenocarcinoma 10.2 KRAS HRAS
36 signet ring cell adenocarcinoma 10.2 KRAS HRAS
37 cecum adenocarcinoma 10.2 KRAS HRAS
38 biliary tract benign neoplasm 10.2 KRAS HRAS
39 periampullary adenocarcinoma 10.2 KRAS HRAS
40 pancreatic acinar cell adenocarcinoma 10.2 KRAS HRAS
41 pleomorphic carcinoma 10.2 KRAS HRAS
42 small intestine adenocarcinoma 10.2 KRAS HRAS
43 papillary adenoma 10.2 KRAS HRAS
44 duodenum adenocarcinoma 10.2 KRAS HRAS
45 thyroid tumor 10.2 KRAS HRAS
46 lung carcinoma in situ 10.2 KRAS HRAS
47 pancreatoblastoma 10.2 KRAS HRAS
48 ovarian carcinosarcoma 10.2 KRAS HRAS
49 appendix disease 10.2 KRAS HRAS
50 paronychia 10.2 KRAS HRAS

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 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001274
2 aplasia/hypoplasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008065
3 absent septum pellucidum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001331
4 generalized hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007440
5 limbal dermoid 30 Hallmark (90%) HP:0001140
6 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
7 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
8 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
9 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
10 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
11 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
12 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
13 growth delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001510
14 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
15 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
16 aganglionic megacolon 58 30 Frequent (33%) Frequent (79-30%)
HP:0002251
17 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
18 proptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000520
19 telecanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000506
20 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
21 abnormality of the ureter 58 30 Frequent (33%) Frequent (79-30%)
HP:0000069
22 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
23 short palm 58 30 Frequent (33%) Frequent (79-30%)
HP:0004279
24 abnormality of cardiovascular system morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0030680
25 short palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0012745
26 laryngeal hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008749
27 abnormal facial shape 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001999
28 eyelid coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000625
29 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
30 abnormality of the bladder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000014
31 epispadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000039
32 global developmental delay 30 Occasional (7.5%) HP:0001263
33 depressed nasal bridge 30 Occasional (7.5%) HP:0005280
34 wide nasal bridge 30 Occasional (7.5%) HP:0000431
35 opacification of the corneal stroma 30 Occasional (7.5%) HP:0007759
36 astigmatism 30 Occasional (7.5%) HP:0000483
37 arachnoid cyst 30 Occasional (7.5%) HP:0100702
38 parietal bossing 30 Occasional (7.5%) HP:0000242
39 seizure 30 HP:0001250
40 nystagmus 30 HP:0000639
41 short neck 30 HP:0000470
42 abnormality of the cardiovascular system 58 Frequent (79-30%)
43 lymphedema 30 HP:0001004
44 atrial septal defect 30 HP:0001631
45 coarctation of aorta 30 HP:0001680
46 hypertrophic cardiomyopathy 30 HP:0001639
47 transient ischemic attack 30 HP:0002326
48 facial asymmetry 30 HP:0000324
49 patent ductus arteriosus 30 HP:0001643
50 abnormality of nervous system morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
eyelid coloboma
proptosis
microcornea
astigmatism
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 08-Dec-2022)

MGI Mouse Phenotypes related to Oculoectodermal Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.63 FGFR1 H3-3A H3-3B HRAS KRAS TRPC4
2 renal/urinary system MP:0005367 9.43 FGFR1 H3-3A H3-3B HRAS KRAS TRPV4
3 muscle MP:0005369 9.1 FGFR1 HRAS KRAS SH3BP2 TRPC4 TRPV4

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 28 KRAS

Anatomical Context for Oculoectodermal Syndrome

Organs/tissues related to Oculoectodermal Syndrome:

MalaCards : Skin, Breast

Publications for Oculoectodermal Syndrome

Articles related to Oculoectodermal Syndrome:

(show all 36)
# Title Authors PMID Year
1
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. 62 57 5
30891959 2019
2
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. 62 57 5
26970110 2016
3
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 62 57 5
25808193 2015
4
Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. 62 57 5
25251940 2014
5
Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys. 57 5
8456858 1993
6
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies. 62 57
21337683 2011
7
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. 62 57
17963257 2007
8
Oculo-ectodermal syndrome: is arachnoid cyst a common finding? 62 57
17159512 2007
9
Oculo-ectodermal syndrome: a new tumour predisposition syndrome. 62 57
15057122 2004
10
Oculo-ectodermal syndrome: report of two further cases. 62 57
10767005 2000
11
Oculo-ectodermal syndrome: a new case. 62 57
7864049 1994
12
Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome. 62 57
7864039 1994
13
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. 5
21063026 2011
14
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 5
17332249 2007
15
Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? 57
16523517 2006
16
Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome. 57
10532175 1999
17
The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231. 5
3627975 1987
18
Patient with recurrent mosaic KRAS variant: Rare oculoectodermal syndrome with severe neurologic phenotype. 62
35593416 2022
19
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature. 62
35801299 2022
20
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies. 62
35409398 2022
21
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome. 62
34895016 2022
22
Encephalocraniocutaneous Lipomatosis 62
35099867 2022
23
Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome. 62
34254724 2021
24
Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis. 62
34095036 2021
25
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation. 62
31633190 2020
26
Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome. 62
29923968 2018
27
Oculoectodermal syndrome: twentieth described case with new manifestations. 62
28300929 2016
28
OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS. 62
27192894 2016
29
Oculo-ectodermal syndrome: A case report and further delineation of the syndrome. 62
25745601 2014
30
Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12. 62
22002936 2011
31
Progressive growth in epibulbar complex choristomas: report of 2 cases and review of literature. 62
21885965 2011
32
Encephalocraniocutaneous lipomatosis. 62
19574261 2009
33
A new case of oculoectodermal syndrome. 62
16272058 2005
34
A severe case of oculo-ectodermal syndrome? 62
12072796 2002
35
[Oculo-ectodermal syndrome]. 62
11528775 2001
36
New clinical findings in oculo-ectodermal syndrome. 62
10649796 2000

Variations for Oculoectodermal Syndrome

ClinVar genetic disease variations for Oculoectodermal Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRAS NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) SNV Pathogenic
217822 rs121913538 GRCh37: 12:25398262-25398262
GRCh38: 12:25245328-25245328
2 KRAS NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) SNV Pathogenic
197243 rs121913527 GRCh37: 12:25378562-25378562
GRCh38: 12:25225628-25225628
3 KRAS NM_004985.5(KRAS):c.437C>T (p.Ala146Val) SNV Pathogenic
375962 rs1057519725 GRCh37: 12:25378561-25378561
GRCh38: 12:25225627-25225627
4 KRAS NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) SNV Pathogenic
12580 rs112445441 GRCh37: 12:25398281-25398281
GRCh38: 12:25245347-25245347
5 CLUAP1 NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) SNV Uncertain Significance
224333 rs751218423 GRCh37: 16:3573261-3573261
GRCh38: 16:3523261-3523261
6 KRAS NM_004985.5(KRAS):c.534_536del (p.Lys180del) DEL Uncertain Significance
931154 rs1373386042 GRCh37: 12:25362760-25362762
GRCh38: 12:25209826-25209828
7 NLRP5 NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) SNV Uncertain Significance
222985 rs200446614 GRCh37: 19:56544053-56544053
GRCh38: 19:56032687-56032687
8 NLRP5 NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) SNV Uncertain Significance
222986 rs202181446 GRCh37: 19:56552341-56552341
GRCh38: 19:56040975-56040975

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

73
# 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 rs1057519725

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 all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 KRAS HRAS H3-3B H3-3A FGFR1
2
Show member pathways
13.33 TRPC4 KRAS HRAS H3-3B H3-3A FGFR1
3
Show member pathways
13.32 KRAS HRAS H3-3B H3-3A FGFR1
4
Show member pathways
13.24 FGFR1 H3-3A H3-3B HRAS KRAS
5
Show member pathways
12.96 FGFR1 HRAS KRAS TRPC4 TRPV4
6
Show member pathways
12.74 KRAS HRAS H3-3B H3-3A
7
Show member pathways
12.28 KRAS HRAS FGFR1
8
Show member pathways
12.25 KRAS HRAS FGFR1
9 12.21 KRAS HRAS FGFR1
10
Show member pathways
12.16 KRAS HRAS FGFR1
11
Show member pathways
12.04 KRAS HRAS FGFR1
12
Show member pathways
12.02 KRAS HRAS FGFR1
13 11.99 KRAS HRAS FGFR1
14
Show member pathways
11.92 KRAS HRAS FGFR1
15
Show member pathways
11.83 KRAS HRAS FGFR1
16
Show member pathways
11.63 KRAS HRAS FGFR1
17
Show member pathways
11.57 KRAS HRAS FGFR1
18
Show member pathways
11.45 KRAS HRAS FGFR1
19
Show member pathways
11.33 KRAS HRAS FGFR1
20 11.28 KRAS HRAS
21 11.25 KRAS HRAS
22 11.25 KRAS HRAS
23 11.23 H3-3B H3-3A
24 11.21 KRAS HRAS
25 11.2 KRAS HRAS FGFR1
26
Show member pathways
11.18 H3-3B H3-3A
27 11.16 H3-3B H3-3A
28 11.16 H3-3B H3-3A
29
Show member pathways
11.14 KRAS HRAS
30 11.1 KRAS HRAS
31 11.1 KRAS HRAS
32
Show member pathways
11.08 KRAS HRAS
33 11.05 TRPV4 TRPC4
34 11.05 KRAS HRAS
35
Show member pathways
11.02 HRAS KRAS
36 11.02 HRAS KRAS
37 10.92 KRAS HRAS
38 10.86 KRAS HRAS
39 10.85 KRAS HRAS
40 10.77 KRAS HRAS FGFR1
41
Show member pathways
10.51 KRAS HRAS
42 10.34 KRAS HRAS H3-3B H3-3A

GO Terms for Oculoectodermal Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.73 KRAS HRAS FGFR1
2 calcium ion import GO:0070509 9.46 TRPV4 TRPC4
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.26 KRAS HRAS
4 positive regulation of phospholipase C activity GO:0010863 8.92 HRAS FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein-membrane adaptor activity GO:0043495 8.96 KRAS HRAS
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.92 H3-3B H3-3A

Sources for Oculoectodermal Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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