MCID: MCR165
MIFTS: 45

Microphthalmia with Limb Anomalies

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microphthalmia with Limb Anomalies

MalaCards integrated aliases for Microphthalmia with Limb Anomalies:

Name: Microphthalmia with Limb Anomalies 57 12 25 59 75 13 15
Waardenburg Anophthalmia Syndrome 57 12 25 59 75
Ophthalmoacromelic Syndrome 57 12 25 59 75
Oas 57 12 25 59 75
Anophthalmia-Syndactyly 57 25 75
Mla 57 12 75
Anophthalmia-Syndactyly Syndrome 12 59
Anophthalmos-Limb Anomalies Syndrome 25
Microphthalmia, with Limb Anomalies 40
Anophthalmia-Waardenburg Syndrome 25
Ophthalmoacromelic Syndrome; Oas 57
Anophthalmos with Limb Anomalies 25
Syndactyly-Anophthalmos Syndrome 25
Ophthalmo-Acromelic Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
microphthalmia with limb anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microphthalmia with limb anomalies:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia with Limb Anomalies

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Microphthalmia with Limb Anomalies, also known as waardenburg anophthalmia syndrome, is related to osteoarthritis and ocular albinism. 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 Cytokine Signaling in Immune system. Affiliated tissues include eye, bone and kidney, and related phenotypes are frontal bossing and finger syndactyly

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).

Disease Ontology : 12 A an autosomal recessive disease 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.

Description from OMIM: 206920

Related Diseases for Microphthalmia with Limb Anomalies

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

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 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 Nose:
short nose
flared nostrils
flat nasal bridge

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

Skeletal Pelvis:
hip dislocation

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

Human phenotypes related to Microphthalmia with Limb Anomalies:

59 32 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
6 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
7 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
10 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
11 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
12 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
13 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
14 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
15 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
16 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
17 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
18 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
19 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
20 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
21 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
22 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
23 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
24 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
25 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
26 sandal gap 59 32 hallmark (90%) Very frequent (99-80%) HP:0001852
27 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
28 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
29 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
30 arrhinencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002139
31 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
32 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
33 venous insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005293
34 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
35 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
36 cleft upper lip 59 32 frequent (33%) Frequent (79-30%) HP:0000204
37 large earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0009748
38 tarsal synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0008368
39 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
40 postaxial foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001830
41 tibial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002982
42 fibular hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003038
43 short tibia 59 32 frequent (33%) Frequent (79-30%) HP:0005736
44 camptodactyly of 2nd-5th fingers 59 32 frequent (33%) Frequent (79-30%) HP:0001215
45 macrodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001572
46 foot oligodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001849
47 hypoplasia of the premaxilla 59 32 occasional (7.5%) Occasional (29-5%) HP:0010650
48 true anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011478
49 low-set ears 32 HP:0000369
50 intellectual disability 32 HP:0001249

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

Anatomical Context for Microphthalmia with Limb Anomalies

MalaCards organs/tissues related to Microphthalmia with Limb Anomalies:

41
Eye, Bone, Kidney

Publications for Microphthalmia with Limb Anomalies

Articles related to Microphthalmia with Limb Anomalies:

# Title Authors Year
1
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. ( 23703728 )
2013

Variations for Microphthalmia with Limb Anomalies

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

75
# 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

ClinVar genetic disease variations for Microphthalmia with Limb Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMOC1 NM_022137.5(SMOC1): c.718C> T (p.Gln240Ter) single nucleotide variant Pathogenic rs376672665 GRCh37 Chromosome 14, 70477524: 70477524
2 SMOC1 NM_022137.5(SMOC1): c.718C> T (p.Gln240Ter) single nucleotide variant Pathogenic rs376672665 GRCh38 Chromosome 14, 70010807: 70010807
3 SMOC1 NM_022137.5(SMOC1): c.664+1G> A single nucleotide variant Pathogenic rs863223317 GRCh38 Chromosome 14, 69994481: 69994481
4 SMOC1 NM_022137.5(SMOC1): c.664+1G> A single nucleotide variant Pathogenic rs863223317 GRCh37 Chromosome 14, 70461198: 70461198
5 SMOC1 SMOC1, IVS3, G-A, +1 single nucleotide variant Pathogenic
6 SMOC1 NM_001034852.2(SMOC1): c.367T> C (p.Ser123Pro) single nucleotide variant Pathogenic rs1114167455 GRCh37 Chromosome 14, 70420238: 70420238
7 SMOC1 NM_001034852.2(SMOC1): c.367T> C (p.Ser123Pro) single nucleotide variant Pathogenic rs1114167455 GRCh38 Chromosome 14, 69953521: 69953521

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 IFNA1 IFNB1 IFNL1 ISG15 MX1 OAS1
2
Show member pathways
13.14 IFNA1 IFNB1 IFNL1 ISG15 MX1 OAS1
3
Show member pathways
12.89 IFNA1 IFNB1 OAS1 OAS2 OAS3 RNASEL
4
Show member pathways
12.83 IFNA1 IFNB1 ISG15 MX1 OASL STAT1
5
Show member pathways
12.66 IFNA1 IFNB1 MX1 OAS1 OAS2 OAS3
6
Show member pathways
12.55 IFNA1 IFNB1 IFNL1 ISG15
7 12.41 IFNA1 OAS1 RNASEL STAT1 STAT2
8
Show member pathways
12.39 IFNA1 IFNB1 STAT1 STAT2
9
Show member pathways
12.33 IFNA1 IFNB1 IFNL1 ISG15 MX1 OAS1
10
Show member pathways
12.17 IFNA1 IFNB1 STAT1 STAT2
11
Show member pathways
12.09 IFNA1 IFNB1 STAT1 STAT2
12 12.02 IFNA1 IFNB1 STAT1
13 11.88 IFNA1 IFNB1 OAS1 OAS2 OAS3 RNASEL
14 11.86 IFNB1 STAT1 STAT2
15
Show member pathways
11.85 IFNA1 IFNB1 ISG15 MX1 OAS1 OAS2
16 11.77 IFNA1 IFNB1 STAT1 STAT2
17 11.34 IFNA1 IFNB1 IFNL1
18 11.33 IFNB1 ISG15 OAS1 STAT1 STAT2
19
Show member pathways
11.28 IFNL1 STAT1 STAT2
20
Show member pathways
11.07 MX1 OAS1 STAT1 STAT2

GO Terms for Microphthalmia with Limb Anomalies

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.93 IFNA1 IFNB1 IFNL1 ISG15 MX1 OAS1
2 cytokine-mediated signaling pathway GO:0019221 9.88 IFNA1 IFNB1 IFNL1 STAT1 STAT2
3 response to virus GO:0009615 9.85 IFNB1 MX1 OAS1 OAS2 OAS3 OASL
4 interferon-gamma-mediated signaling pathway GO:0060333 9.8 OAS1 OAS2 OAS3 OASL STAT1
5 defense response GO:0006952 9.74 IFNA1 IFNB1 MX1
6 regulation of type I interferon-mediated signaling pathway GO:0060338 9.72 IFNA1 IFNB1 RNASEL STAT1 STAT2
7 type I interferon signaling pathway GO:0060337 9.7 IFNA1 IFNB1 ISG15 MX1 OAS1 OAS2
8 JAK-STAT cascade GO:0007259 9.63 IFNL1 STAT1 STAT2
9 B cell proliferation GO:0042100 9.58 IFNA1 IFNB1
10 positive regulation of erythrocyte differentiation GO:0045648 9.58 ISG15 STAT1
11 T cell activation involved in immune response GO:0002286 9.56 IFNA1 IFNB1
12 regulation of ribonuclease activity GO:0060700 9.56 OAS1 OAS2 OAS3 OASL
13 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.55 IFNA1 IFNB1
14 natural killer cell activation involved in immune response GO:0002323 9.54 IFNA1 IFNB1
15 cellular response to interferon-beta GO:0035458 9.52 IFNB1 STAT1
16 response to type I interferon GO:0034340 9.51 ISG15 MX1
17 negative regulation of T cell differentiation GO:0045581 9.49 IFNB1 IFNL1
18 negative regulation of viral genome replication GO:0045071 9.23 IFNB1 ISG15 MX1 OAS1 OAS2 OAS3
19 innate immune response GO:0045087 10.03 IFNA1 IFNL1 ISG15 MX1 OAS1 OAS2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor binding GO:0005126 9.37 IFNA1 IFNB1
2 nucleotidyltransferase activity GO:0016779 9.33 OAS1 OAS2 OAS3
3 type I interferon receptor binding GO:0005132 9.32 IFNA1 IFNB1
4 ubiquitin-like protein ligase binding GO:0044389 9.26 STAT1 STAT2
5 double-stranded RNA binding GO:0003725 9.26 OAS1 OAS2 OAS3 OASL
6 2-5-oligoadenylate synthetase activity GO:0001730 8.92 OAS1 OAS2 OAS3 OASL

Sources for Microphthalmia with Limb Anomalies

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
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