MLA
MCID: MCR165
MIFTS: 53

Microphthalmia with Limb Anomalies (MLA)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Microphthalmia with Limb Anomalies

MalaCards integrated aliases for Microphthalmia with Limb Anomalies:

Name: Microphthalmia with Limb Anomalies 56 12 25 58 73 36 29 13 6 15
Waardenburg Anophthalmia Syndrome 56 12 25 58 73
Ophthalmoacromelic Syndrome 56 12 25 58 73
Oas 56 12 25 58 73
Anophthalmia-Syndactyly 56 25 73
Mla 56 12 73
Anophthalmia-Syndactyly Syndrome 12 58
Anophthalmos-Limb Anomalies Syndrome 25
Microphthalmia, with Limb Anomalies 39
Anophthalmia-Waardenburg Syndrome 25
Ophthalmoacromelic Syndrome; Oas 56
Anophthalmos with Limb Anomalies 25
Syndactyly-Anophthalmos Syndrome 25
Ophthalmo-Acromelic Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
microphthalmia with limb anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microphthalmia with limb anomalies:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Microphthalmia with Limb Anomalies

Genetics Home Reference : 25 Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.

MalaCards based summary : Microphthalmia with Limb Anomalies, also known as waardenburg anophthalmia syndrome, is related to childhood type dermatomyositis and encephalitis. An important gene associated with Microphthalmia with Limb Anomalies is SMOC1 (SPARC Related Modular Calcium Binding 1), and among its related pathways/superpathways are Innate Immune System and Toll-like Receptor Signaling Pathway. Affiliated tissues include bone, eye and kidney, and related phenotypes are prominent forehead and frontal bossing

Disease Ontology : 12 A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material basis in homozygous mutation in the SMOC1 gene on chromosome 14q24.

KEGG : 36 Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal-recessive disorder, presenting with unilateral or bilateral microphthalmia, clinical anophthalmia, and limb abnormalities such as syndactyly, brachydactyly, camptodactyly, synostosis, hip dislocation, absence, or hypoplasia of fibula, and bowed tibia. In addition, other organs may be affected (long-bone hypoplasia; renal, venous, and vertebral anomalies). It has been shown that mutations in SMOC1 gene cause this disorder.

UniProtKB/Swiss-Prot : 73 Ophthalmoacromelic syndrome: A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases.

More information from OMIM: 206920

Related Diseases for Microphthalmia with Limb Anomalies

Diseases related to Microphthalmia with Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 childhood type dermatomyositis 30.5 MX1 IFNA1 IFIH1
2 encephalitis 30.4 RSAD2 MX1 IRF3 IFNB1 IFNA1 DDX58
3 tick-borne encephalitis 30.3 RSAD2 OAS3 OAS2 OAS1 IFNB1 IFNA1
4 west nile virus 30.2 RSAD2 IRF3 IFNA1 IFIH1 DDX58
5 dengue virus 30.2 STAT2 RSAD2 OAS3 IFIH1 DDX58
6 severe acute respiratory syndrome 30.1 MX1 IRF3 IFNB1 IFNA1 IFIH1 DDX58
7 dengue hemorrhagic fever 30.0 STAT2 MX1 IRF7 IFNB1 IFNAR1 IFNA1
8 vaccinia 29.9 STAT2 RNASEL ISG15 IRF7 IRF3 IFNB1
9 osteoarthritis 12.3
10 ocular albinism 12.2
11 esophageal atresia 11.9
12 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.2
13 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.2
14 wolfram syndrome 11.2
15 oral erosive lichen 10.6 IFNB1 IFNA1
16 west nile virus infection 10.5 OAS1 IRF3
17 singleton-merten syndrome 10.5 IFIH1 DDX58
18 la crosse encephalitis 10.5 RNASEL DDX58
19 exostosis 10.5
20 west nile encephalitis 10.5 RNASEL OASL OAS3 OAS1
21 west nile fever 10.5 RNASEL OASL OAS3 OAS1
22 adult dermatomyositis 10.5 ISG15 IFNA1 IFIH1
23 subacute sclerosing panencephalitis 10.5 MX1 IFNA1 IFIH1
24 argentine hemorrhagic fever 10.5 IFNA1 DDX58
25 plica syndrome 10.4
26 synovitis 10.4
27 japanese encephalitis 10.4 RSAD2 IFNB1 IFNA1
28 cutaneous lupus erythematosus 10.4 MX1 IRF7 IFNA1
29 hepatitis e 10.4 ISG15 IFNB1 DDX58
30 dengue disease 10.4 RNASEL IFNB1 IFNA1
31 croup 10.4 IFIH1 DDX58
32 lymphocytic choriomeningitis 10.4 IRF9 IRF3 DDX58
33 swine influenza 10.4 MX1 IFNB1 IFNA1 DDX58
34 chikungunya 10.4 RSAD2 OAS3 OAS1 DDX58
35 crimean-congo hemorrhagic fever 10.4 MX1 IFNB1 IFNA1 DDX58
36 zika fever 10.4 STAT2 IFNAR1
37 viral encephalitis 10.4 MX1 IFNB1 IFNA1 DDX58
38 chilblain lupus 1 10.4 IRF3 IFNA1 IFIH1 DDX58
39 lassa fever 10.4 IRF3 IFNA1 IFIH1 DDX58
40 chromosome 2q35 duplication syndrome 10.4
41 hantavirus pulmonary syndrome 10.4 IRF3 IFNB1
42 noonan syndrome 6 10.4 IFIH1 DDX58
43 lyme disease 10.4 IRF7 IFNB1 IFNA1
44 middle east respiratory syndrome 10.4 ISG15 IRF3 IFNB1 IFIH1
45 polydactyly 10.3
46 waardenburg's syndrome 10.3
47 relapsing-remitting multiple sclerosis 10.3 MX1 IFNB1 IFNA1
48 bacterial infectious disease 10.3 MX1 ISG15 IRF3 IFNB1
49 venezuelan equine encephalitis 10.3 STAT2 IRF7 IFNB1 IFNA1
50 ebola hemorrhagic fever 10.3 IFNB1 IFNA1

Graphical network of the top 20 diseases related to Microphthalmia with Limb Anomalies:



Diseases related to Microphthalmia with Limb Anomalies

Symptoms & Phenotypes for Microphthalmia with Limb Anomalies

Human phenotypes related to Microphthalmia with Limb Anomalies:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
4 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
5 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
6 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
7 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
8 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
9 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
10 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
11 true anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011478
12 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
13 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
14 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
15 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
16 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
17 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
18 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
19 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
20 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
21 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
22 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
23 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
24 large earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0009748
25 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
26 tarsal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0008368
27 hand oligodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001180
28 tibial bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002982
29 fibular hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003038
30 short tibia 58 31 frequent (33%) Frequent (79-30%) HP:0005736
31 camptodactyly of 2nd-5th fingers 58 31 frequent (33%) Frequent (79-30%) HP:0001215
32 foot oligodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001849
33 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
34 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
35 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
36 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
37 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
38 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
39 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
40 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
41 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
42 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
43 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
44 arrhinencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002139
45 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
46 venous insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0005293
47 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
48 postaxial foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001830
49 macrodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001572
50 hypoplasia of the premaxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0010650

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
short nose
flared nostrils
flat nasal bridge

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Pelvis:
hip dislocation

Skeletal Hands:
syndactyly
single transverse palmar creases
fused 4th-5th metacarpals
camptodactyly (2nd-5th fingers)

Skeletal Limbs:
hypoplastic fibula
bowed tibia

Neurologic Central Nervous System:
mental retardation (47%)

Head And Neck Face:
prominent forehead
retrognathia
prominent philtrum

Growth Other:
postnatal growth retardation

Head And Neck Eyes:
microphthalmia
short palpebral fissure
downslanting palpebral fissures
clinical anophthalmia, unilateral/bilateral (87%)
small orbits
more
Skeletal Feet:
oligodactyly
syndactyly
postaxial polydactyly
clubfoot
widened gap 1st-2nd toes

Skin Nails Hair Hair:
normal eyebrows
normal eyelashes

Cardiovascular Vascular:
inferior vena cava interruption with azygos continuation

Clinical features from OMIM:

206920

GenomeRNAi Phenotypes related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-3 9.47 RNASEL
2 Decreased viability GR00221-A-4 9.47 RNASEL
3 Decreased viability GR00249-S 9.47 IRF7 IRF9 MX1
4 Decreased viability GR00301-A 9.47 RNASEL
5 Decreased viability GR00386-A-1 9.47 IFNAR1 IFNB1 OASL STAT2
6 Decreased viability GR00402-S-2 9.47 FNBP4 OAS1 OAS2 RNASEL

MGI Mouse Phenotypes related to Microphthalmia with Limb Anomalies:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 DDX58 IFIH1 IFNAR1 IFNB1 IRF3 IRF7
2 immune system MP:0005387 9.44 DDX58 IFIH1 IFNAR1 IFNB1 IRF3 IRF7

Drugs & Therapeutics for Microphthalmia with Limb Anomalies

Search Clinical Trials , NIH Clinical Center for Microphthalmia with Limb Anomalies

Genetic Tests for Microphthalmia with Limb Anomalies

Genetic tests related to Microphthalmia with Limb Anomalies:

# Genetic test Affiliating Genes
1 Microphthalmia with Limb Anomalies 29 SMOC1

Anatomical Context for Microphthalmia with Limb Anomalies

MalaCards organs/tissues related to Microphthalmia with Limb Anomalies:

40
Bone, Eye, Kidney, Heart

Publications for Microphthalmia with Limb Anomalies

Articles related to Microphthalmia with Limb Anomalies:

(show all 23)
# Title Authors PMID Year
1
SMOC1 is essential for ocular and limb development in humans and mice. 6 56 61
21194678 2011
2
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 61 6 56
21194680 2011
3
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. 6 56
19208380 2009
4
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. 56 61
23703728 2013
5
Waardenburg anophthalmia syndrome: report and review. 61 56
10607960 2000
6
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. 56
17375532 2006
7
Microphthalmia/Anophthalmia/Coloboma Spectrum – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301552 2004
8
Ophthalmo-acromelic syndrome: report and review. 56
10607955 2000
9
Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly. 56
9777341 1998
10
Anophthalmia-Waardenburg syndrome: a report of three cases. 56
8723070 1996
11
Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. 56
7573150 1995
12
Ophthalmo-acromelic syndrome. 56
3146242 1988
13
A syndrome with true anophthalmia, hand-foot defects and mental retardation. 56
6544388 1984
14
Waardenburg's recessive anophthalmia syndrome. 56
6549566 1984
15
Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg. 56
6846395 1983
16
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. 61
30445150 2019
17
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. 61
30586382 2018
18
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome. 61
28807869 2017
19
A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome. 61
28085523 2017
20
Computational analyses of the length and compositional variations of the FNBP4 gene across 10 different species. 61
26456197 2016
21
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. 61
24357125 2014
22
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 61
21750680 2011
23
Pulmonary alveolar microlithiasis in children. 61
8598991 1996

Variations for Microphthalmia with Limb Anomalies

ClinVar genetic disease variations for Microphthalmia with Limb Anomalies:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMOC1 NM_001034852.3(SMOC1):c.367T>C (p.Ser123Pro)SNV Pathogenic 427815 rs1114167455 14:70420238-70420238 14:69953521-69953521
2 SMOC1 NM_001034852.3(SMOC1):c.378+1G>TSNV Pathogenic 562135 rs751356341 14:70420250-70420250 14:69953533-69953533
3 SMOC1 NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter)SNV Pathogenic 562133 rs1566709754 14:70477515-70477515 14:70010798-70010798
4 SMOC1 NM_001034852.3(SMOC1):c.857G>A (p.Arg286His)SNV Pathogenic 562137 rs1365818420 14:70477663-70477663 14:70010946-70010946
5 SMOC1 NM_001034852.3(SMOC1):c.718C>T (p.Gln240Ter)SNV Pathogenic 30726 rs376672665 14:70477524-70477524 14:70010807-70010807
6 SMOC1 NM_001034852.3(SMOC1):c.664+1G>ASNV Pathogenic 30727 rs863223317 14:70461198-70461198 14:69994481-69994481
7 SMOC1 NM_001034852.3(SMOC1):c.378+1G>ASNV Pathogenic 30728 14:70420250-70420250 14:69953533-69953533
8 SMOC1 NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr)SNV Likely pathogenic 562134 rs1326644602 14:70490096-70490096 14:70023379-70023379
9 SMOC1 NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter)SNV Likely pathogenic 599220 rs370866589 14:70418978-70418978 14:69952261-69952261
10 SMOC1 NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr)SNV Likely pathogenic 562136 rs1566709825 14:70477618-70477618 14:70010901-70010901

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia with Limb Anomalies:

73
# Symbol AA change Variation ID SNP ID
1 SMOC1 p.Arg278Cys VAR_069326 rs776638586
2 SMOC1 p.Thr283Asn VAR_069327
3 SMOC1 p.Arg286His VAR_069328 rs136581842

Expression for Microphthalmia with Limb Anomalies

Search GEO for disease gene expression data for Microphthalmia with Limb Anomalies.

Pathways for Microphthalmia with Limb Anomalies

Pathways related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 STAT2 RSAD2 RNASEL OASL OAS3 OAS2
2
Show member pathways
13.11 STAT2 RSAD2 RNASEL OAS3 OAS2 OAS1
3
Show member pathways
13 STAT2 OASL MX1 ISG15 IRF9 IRF3
4
Show member pathways
12.91 STAT2 IRF9 IRF7 IRF3 IFNB1 IFNAR1
5 12.87 STAT2 RNASEL OAS3 OAS2 OAS1 IRF9
6
Show member pathways
12.87 STAT2 RSAD2 RNASEL OAS3 OAS2 OAS1
7
Show member pathways
12.66 STAT2 RSAD2 RNASEL OASL OAS3 OAS2
8 12.64 STAT2 RSAD2 RNASEL OAS1 IRF7 IRF3
9
Show member pathways
12.57 ISG15 IRF7 IRF3 IFNB1 IFNA1 IFIH1
10
Show member pathways
12.53 IRF7 IRF3 IFNB1 IFNA1 IFIH1 DDX58
11 12.4 STAT2 RNASEL OAS3 OAS2 OAS1 IRF9
12
Show member pathways
12.38 STAT2 IRF9 IFNB1 IFNAR1 IFNA1
13
Show member pathways
12.38 STAT2 RSAD2 RNASEL OASL OAS3 OAS2
14
Show member pathways
12.27 STAT2 RSAD2 RNASEL OASL OAS3 OAS2
15
Show member pathways
12.19 STAT2 IRF9 IFNB1 IFNAR1 IFNA1
16 12.09 IRF7 IRF3 IFNB1 IFNA1
17 11.98 STAT2 IRF9 IFNB1 IFNAR1
18 11.89 STAT2 IRF9 IFNB1 IFNAR1 IFNA1
19 11.81 RNASEL IRF7 IFNB1
20 11.51 STAT2 IRF9 IFNAR1
21 11.46 STAT2 OAS1 ISG15 IRF9 IFNB1
22
Show member pathways
11.4 STAT2 OAS1 MX1 IRF9 IRF7 IRF3
23 10.81 IFNB1 IFNAR1

GO Terms for Microphthalmia with Limb Anomalies

Cellular components related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 STAT2 RNASEL OASL OAS3 OAS2 OAS1
2 cytosol GO:0005829 9.47 STAT2 RNASEL OASL OAS3 OAS2 OAS1

Biological processes related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.15 RSAD2 OASL OAS3 OAS2 OAS1 MX1
2 immune system process GO:0002376 10.13 RSAD2 OASL OAS3 OAS2 OAS1 MX1
3 viral process GO:0016032 10.11 STAT2 RSAD2 ISG15 IRF7 IRF3 IFIT1
4 negative regulation of viral genome replication GO:0045071 9.96 RSAD2 RNASEL OASL OAS3 OAS2 OAS1
5 interferon-gamma-mediated signaling pathway GO:0060333 9.95 OASL OAS3 OAS2 OAS1 IRF9 IRF7
6 cytokine-mediated signaling pathway GO:0019221 9.93 STAT2 IFNB1 IFNAR1 IFNA1
7 response to virus GO:0009615 9.93 RSAD2 OASL OAS3 OAS2 OAS1 MX1
8 defense response GO:0006952 9.88 STAT2 MX1 IFNB1 IFNA1
9 type I interferon signaling pathway GO:0060337 9.86 STAT2 RSAD2 RNASEL OASL OAS3 OAS2
10 response to exogenous dsRNA GO:0043330 9.85 IRF3 IFNB1 IFNA1 DDX58
11 negative regulation of type I interferon production GO:0032480 9.84 ISG15 IRF3 IFIH1 DDX58
12 positive regulation of interferon-beta production GO:0032728 9.83 IRF7 IRF3 IFIH1 DDX58
13 cellular response to exogenous dsRNA GO:0071360 9.83 IRF3 IFNB1 IFIT1 IFIH1 DDX58
14 response to bacterium GO:0009617 9.82 OAS2 ISG15 IRF3
15 positive regulation of interferon-alpha production GO:0032727 9.78 IRF7 IRF3 IFIH1 DDX58
16 regulation of ribonuclease activity GO:0060700 9.76 OASL OAS3 OAS2 OAS1
17 MDA-5 signaling pathway GO:0039530 9.67 IRF7 IRF3 IFIH1
18 positive regulation of tumor necrosis factor secretion GO:1904469 9.65 IFIH1 DDX58
19 T cell activation involved in immune response GO:0002286 9.65 IFNB1 IFNA1
20 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.64 IFNB1 IFNA1
21 natural killer cell activation involved in immune response GO:0002323 9.64 IFNB1 IFNA1
22 regulation of type I interferon production GO:0032479 9.63 IRF7 IRF3
23 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.62 IRF7 IRF3
24 positive regulation of interferon-alpha secretion GO:1902741 9.62 IFIH1 DDX58
25 response to type I interferon GO:0034340 9.61 MX1 ISG15
26 positive regulation of response to cytokine stimulus GO:0060760 9.61 IFIH1 DDX58
27 detection of virus GO:0009597 9.6 IFIH1 DDX58
28 positive regulation of interferon-beta secretion GO:0035549 9.59 IFIH1 DDX58
29 type I interferon biosynthetic process GO:0045351 9.58 IRF7 IRF3
30 cytoplasmic pattern recognition receptor signaling pathway in response to virus GO:0039528 9.57 IFIH1 DDX58
31 regulation of type III interferon production GO:0034344 9.56 IFIH1 DDX58
32 defense response to virus GO:0051607 9.55 STAT2 RSAD2 RNASEL OASL OAS3 OAS2

Molecular functions related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 STAT2 SMOC1 RSAD2 RNASEL OASL OAS3
2 ATP binding GO:0005524 9.95 RNASEL OASL OAS3 OAS2 OAS1 IFIH1
3 RNA binding GO:0003723 9.76 RNASEL OASL OAS3 OAS2 OAS1 IFIT1
4 nucleotidyltransferase activity GO:0016779 9.5 OAS3 OAS2 OAS1
5 double-stranded RNA binding GO:0003725 9.43 OASL OAS3 OAS2 OAS1 IFIH1 DDX58
6 type I interferon receptor binding GO:0005132 9.37 IFNB1 IFNA1
7 2'-5'-oligoadenylate synthetase activity GO:0001730 8.92 OASL OAS3 OAS2 OAS1

Sources for Microphthalmia with Limb Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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