MCOPS9
MCID: MCR256
MIFTS: 48

Microphthalmia, Syndromic 9 (MCOPS9)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Microphthalmia, Syndromic 9

MalaCards integrated aliases for Microphthalmia, Syndromic 9:

Name: Microphthalmia, Syndromic 9 57
Microphthalmia, Isolated, with Coloboma 8 57 13 6 73
Matthew-Wood Syndrome 57 12 75 15
Mcops9 57 12 53 75
Anophthalmia/microphthalmia and Pulmonary Hypoplasia 57 53 75
Microphthalmia Syndromic 9 53 29 6
Spear Syndrome 57 53 75
Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformations of the Lung, Heart, and Diaphragm 57 75
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect 57 75
Pulmonary Agenesis, Microphthalmia, and Diaphragmatic Defect 57 75
Pdac 57 75
Pmd 57 75
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart and Diaphragm Malformations 53
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect; Pdac 57
Pulmonary Agenesis, Microphthalmia, and Diaphragmatic Defect; Pmd 57
Pulmonary Agenesis Microphthalmi and Diaphragmatic Defect 53
Microphthalmia, Isolated, with Coloboma, 8 75
Isolated Colobomatous Microphthalmia 8 75
Anophthalmia and Pulmonary Hypoplasia 73
Microphthalmia Syndromic, Type 9 40
Microphthalmia Syndromic Type 9 12
Microphthalmia, Syndromic, 9 75
Matthew Wood Syndrome 53
Mcopcb8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early lethality in most cases


HPO:

32
microphthalmia, syndromic 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 9

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2470Disease definitionMatthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.EpidemiologyOnly five cases have been reported so far, two of whom were sibs.Clinical descriptionOne foetus also had micrognathism, cleft palate, upturned nasal tip with short upper lip and low-set ears. Pathologic findings included no obvious lobulation of the hypoplastic lungs, the heart had a single ventricle with hypoplastic left atrium, the spleen was hypoplastic and the uterus bicornuate. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessivegene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect (eventration or hernia), and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect (organs developing simultaneously at approximately the fourth week of gestation). The autosomal recessive condition is referred to as Matthew-Wood syndrome and was probably named after one of the affected children. In the sib pair, the male infant survived for only 1 hour. Termination of pregnancy was performed in the case of the female foetus at 18 weeks of gestation because of findings of bilateral anophthalmia and hypoplastic lungs on ultrasound scan.Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, Syndromic 9, also known as microphthalmia, isolated, with coloboma 8, is related to microphthalmia and pelizaeus-merzbacher disease. An important gene associated with Microphthalmia, Syndromic 9 is STRA6 (Stimulated By Retinoic Acid 6). Affiliated tissues include lung, heart and uterus, and related phenotypes are low-set ears and intellectual disability

Disease Ontology : 12 An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.

OMIM : 57 Syndromic microphthalmia-9, also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015). (601186)

UniProtKB/Swiss-Prot : 75 Microphthalmia, isolated, with coloboma, 8: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Microphthalmia, syndromic, 9: A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Related Diseases for Microphthalmia, Syndromic 9

Diseases in the Microphthalmia, Syndromic 3 family:

Microphthalmia, Syndromic 2 Microphthalmia, Syndromic 13
Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 1
Microphthalmia, Syndromic 9 Microphthalmia, Syndromic 8
Microphthalmia, Syndromic 6 Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11
Microphthalmia, Syndromic 12

Diseases related to Microphthalmia, Syndromic 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 29.8 SMOC1 STRA6
2 pelizaeus-merzbacher disease 12.3
3 persistent mullerian duct syndrome 12.0
4 spastic paraplegia 2, x-linked 11.3
5 pelizaeus-merzbacher-like disease 11.3
6 persistent mullerian duct syndrome, types i and ii 11.2
7 leukodystrophy, hypomyelinating, 3 11.0
8 pellucid marginal degeneration 11.0
9 pelizaeus-merzbacher disease, classic form 11.0
10 pelizaeus-merzbacher disease, transitional form 11.0
11 adenocarcinoma 10.7
12 pancreatic ductal adenocarcinoma 10.7
13 fryns microphthalmia syndrome 10.6
14 pancreas adenocarcinoma 10.2
15 dextrocardia 10.2
16 welander distal myopathy 10.1
17 polymyositis 10.1
18 diabetes mellitus 10.0
19 lung agenesis 10.0
20 spinal muscular atrophy 10.0
21 seminoma 10.0
22 muscular dystrophy 10.0
23 dissociative seizures 10.0
24 proximal spinal muscular atrophy 10.0
25 testicular seminoma 10.0
26 psychogenic movement 10.0
27 diaphragm disease 9.8 FGF10 STRA6
28 diaphragmatic hernia, congenital 9.6 FGF10 FREM2 STRA6

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 9:



Diseases related to Microphthalmia, Syndromic 9

Symptoms & Phenotypes for Microphthalmia, Syndromic 9

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
respiratory insufficiency
pulmonary hypoplasia, usually bilateral
pulmonary agenesis, usually bilateral
alveolar capillary dysplasia
unilobular lung

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
single ventricle
hypoplastic left atrium
dilation of atrium
more
Head And Neck Eyes:
anophthalmia, clinical
microphthalmia, bilateral (isolated feature in some patients)
blepharophimosis (uncommon)
broad, flared eyebrows
only upward-growing eyebrows (uncommon)
more
Chest Diaphragm:
diaphragmatic hernia
diaphragmatic eventration

Head And Neck Face:
micrognathia (uncommon)

Skin Nails Hair Hair:
only upward-growing eyebrows (uncommon)

Abdomen Spleen:
hypoplastic spleen
multilobulated spleen

Skeletal Feet:
claw-like toes (in some patients)

Genitourinary External Genitalia Male:
inguinal hernia

Cardiovascular Vascular:
patent ductus arteriosus
tetralogy of fallot (rare)
pulmonary artery atresia (rare)
right aortic arch (rare)
agenesis of pulmonary vessels
more
Genitourinary Kidneys:
horseshoe kidney
pelvic kidney
hydronephrosis
hypoplastic kidney
malrotation of kidney
more
Neurologic Central Nervous System:
hypotonia
mental retardation, profound

Growth Other:
intrauterine growth retardation (iugr)

Genitourinary Internal Genitalia Female:
streak ovaries
hypoplastic, bicornuate uterus

Head And Neck Ears:
large, low-set ears (uncommon)

Head And Neck Nose:
broad nasal bridge (uncommon)

Skeletal Hands:
digital contractures (in some patients)


Clinical features from OMIM:

601186

Human phenotypes related to Microphthalmia, Syndromic 9:

32 (show all 48)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 occasional (7.5%) HP:0000369
2 intellectual disability 32 hallmark (90%) HP:0001249
3 muscular hypotonia 32 occasional (7.5%) HP:0001252
4 failure to thrive 32 occasional (7.5%) HP:0001508
5 respiratory insufficiency 32 HP:0002093
6 inguinal hernia 32 HP:0000023
7 wide nasal bridge 32 HP:0000431
8 short stature 32 HP:0004322
9 micrognathia 32 HP:0000347
10 patent ductus arteriosus 32 HP:0001643
11 cryptorchidism 32 occasional (7.5%) HP:0000028
12 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
13 horseshoe kidney 32 occasional (7.5%) HP:0000085
14 atrial septal defect 32 HP:0001631
15 coarctation of aorta 32 HP:0001680
16 microphthalmia 32 hallmark (90%) HP:0000568
17 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
18 abnormality of the uterus 32 occasional (7.5%) HP:0000130
19 tetralogy of fallot 32 HP:0001636
20 renal hypoplasia 32 occasional (7.5%) HP:0000089
21 ventricular septal defect 32 HP:0001629
22 truncus arteriosus 32 occasional (7.5%) HP:0001660
23 intellectual disability, profound 32 HP:0002187
24 pelvic kidney 32 HP:0000125
25 blepharophimosis 32 HP:0000581
26 pulmonic stenosis 32 HP:0001642
27 hydronephrosis 32 HP:0000126
28 anophthalmia 32 hallmark (90%) HP:0000528
29 congenital diaphragmatic hernia 32 frequent (33%) HP:0000776
30 pulmonary hypoplasia 32 frequent (33%) HP:0002089
31 generalized hypotonia 32 HP:0001290
32 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
33 hypoplasia of the uterus 32 HP:0000013
34 annular pancreas 32 occasional (7.5%) HP:0001734
35 duodenal stenosis 32 occasional (7.5%) HP:0100867
36 bicornuate uterus 32 HP:0000813
37 pulmonary artery atresia 32 HP:0004935
38 renal malrotation 32 HP:0004712
39 bilateral microphthalmos 32 HP:0007633
40 bilateral lung agenesis 32 HP:0005944
41 aplasia/hypoplasia of the pancreas 32 occasional (7.5%) HP:0100800
42 diaphragmatic eventration 32 HP:0009110
43 single ventricle 32 HP:0001750
44 hypoplastic left atrium 32 HP:0005156
45 agenesis of pulmonary vessels 32 HP:0005311
46 hypoplastic spleen 32 HP:0006270
47 right aortic arch with mirror image branching 32 HP:0002627
48 abnormal spleen morphology 32 occasional (7.5%) HP:0025408

MGI Mouse Phenotypes related to Microphthalmia, Syndromic 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.71 FGF10 FREM2 SMOC1 STRA6
2 craniofacial MP:0005382 9.67 FGF10 FREM2 SMOC1 STRA6
3 embryo MP:0005380 9.62 FGF10 FREM2 SMOC1 STRA6
4 limbs/digits/tail MP:0005371 9.56 CCDC33 FGF10 FREM2 SMOC1
5 skeleton MP:0005390 9.35 CCDC33 FGF10 FREM2 SMOC1 STRA6
6 pigmentation MP:0001186 9.33 FREM2 SMOC1 STRA6
7 vision/eye MP:0005391 8.92 FGF10 FREM2 SMOC1 STRA6

Drugs & Therapeutics for Microphthalmia, Syndromic 9

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 9

Genetic Tests for Microphthalmia, Syndromic 9

Genetic tests related to Microphthalmia, Syndromic 9:

# Genetic test Affiliating Genes
1 Microphthalmia Syndromic 9 29 STRA6

Anatomical Context for Microphthalmia, Syndromic 9

MalaCards organs/tissues related to Microphthalmia, Syndromic 9:

41
Lung, Heart, Uterus, Spleen, Eye, Retina, Kidney

Publications for Microphthalmia, Syndromic 9

Articles related to Microphthalmia, Syndromic 9:

# Title Authors Year
1
MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS. ( 30204971 )
2016
2
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. ( 19309693 )
2009
3
RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome. ( 18316031 )
2008
4
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. ( 17503335 )
2007
5
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. ( 17236193 )
2007
6
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. ( 17506106 )
2007
7
A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). ( 16761298 )
2006
8
Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). ( 8882778 )
1996

Variations for Microphthalmia, Syndromic 9

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Syndromic 9:

75
# Symbol AA change Variation ID SNP ID
1 STRA6 p.Pro90Leu VAR_037168 rs118203961
2 STRA6 p.Pro293Leu VAR_037169 rs118203958
3 STRA6 p.Thr321Pro VAR_037170 rs118203962
4 STRA6 p.Thr644Met VAR_037174 rs118203960
5 STRA6 p.Arg655Cys VAR_037175 rs118203959
6 STRA6 p.Gly304Lys VAR_066849 rs151341424

ClinVar genetic disease variations for Microphthalmia, Syndromic 9:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 STRA6 NM_001142617.1(STRA6): c.878C> T (p.Pro293Leu) single nucleotide variant Pathogenic rs118203958 GRCh37 Chromosome 15, 74483230: 74483230
2 STRA6 NM_001142617.1(STRA6): c.878C> T (p.Pro293Leu) single nucleotide variant Pathogenic rs118203958 GRCh38 Chromosome 15, 74190889: 74190889
3 STRA6 NM_022369.3(STRA6): c.147delC (p.Gly50Alafs) deletion Pathogenic rs606231125 GRCh38 Chromosome 15, 74197785: 74197785
4 STRA6 NM_022369.3(STRA6): c.147delC (p.Gly50Alafs) deletion Pathogenic rs606231125 GRCh37 Chromosome 15, 74490126: 74490126
5 STRA6 NM_001142617.1(STRA6): c.1963C> T (p.Arg655Cys) single nucleotide variant Pathogenic rs118203959 GRCh37 Chromosome 15, 74472462: 74472462
6 STRA6 NM_001142617.1(STRA6): c.1963C> T (p.Arg655Cys) single nucleotide variant Pathogenic rs118203959 GRCh38 Chromosome 15, 74180121: 74180121
7 STRA6 NM_001142617.1(STRA6): c.1931C> T (p.Thr644Met) single nucleotide variant Pathogenic rs118203960 GRCh37 Chromosome 15, 74472494: 74472494
8 STRA6 NM_001142617.1(STRA6): c.1931C> T (p.Thr644Met) single nucleotide variant Pathogenic rs118203960 GRCh38 Chromosome 15, 74180153: 74180153
9 STRA6 NM_001142617.1(STRA6): c.269C> T (p.Pro90Leu) single nucleotide variant Pathogenic rs118203961 GRCh37 Chromosome 15, 74488486: 74488486
10 STRA6 NM_001142617.1(STRA6): c.269C> T (p.Pro90Leu) single nucleotide variant Pathogenic rs118203961 GRCh38 Chromosome 15, 74196145: 74196145
11 STRA6 NM_001142617.1(STRA6): c.961A> C (p.Thr321Pro) single nucleotide variant Pathogenic rs118203962 GRCh37 Chromosome 15, 74481585: 74481585
12 STRA6 NM_001142617.1(STRA6): c.961A> C (p.Thr321Pro) single nucleotide variant Pathogenic rs118203962 GRCh38 Chromosome 15, 74189244: 74189244
13 STRA6 NM_022369.3(STRA6): c.50_52delACTinsCC (p.Asp17Alafs) indel Pathogenic rs606231126 GRCh38 Chromosome 15, 74202216: 74202218
14 STRA6 NM_022369.3(STRA6): c.50_52delACTinsCC (p.Asp17Alafs) indel Pathogenic rs606231126 GRCh37 Chromosome 15, 74494557: 74494559
15 STRA6 NM_022369.3(STRA6): c.527dupG (p.Ser177Glnfs) duplication Pathogenic rs606231127 GRCh38 Chromosome 15, 74195372: 74195372
16 STRA6 NM_022369.3(STRA6): c.527dupG (p.Ser177Glnfs) duplication Pathogenic rs606231127 GRCh37 Chromosome 15, 74487713: 74487713
17 STRA6 NM_001142617.1(STRA6): c.35_36dup (p.Gly13Profs) duplication Pathogenic GRCh38 Chromosome 15, 74202232: 74202233
18 STRA6 NM_001142617.1(STRA6): c.35_36dup (p.Gly13Profs) duplication Pathogenic GRCh37 Chromosome 15, 74494573: 74494574
19 STRA6 NM_001142617.1(STRA6): c.69G> A (p.Trp23Ter) single nucleotide variant Pathogenic rs267607096 GRCh37 Chromosome 15, 74494540: 74494540
20 STRA6 NM_001142617.1(STRA6): c.69G> A (p.Trp23Ter) single nucleotide variant Pathogenic rs267607096 GRCh38 Chromosome 15, 74202199: 74202199
21 STRA6 NM_001142617.1(STRA6): c.910_911delGGinsAA (p.Gly304Lys) indel Pathogenic rs151341424 GRCh38 Chromosome 15, 74190856: 74190857
22 STRA6 NM_001142617.1(STRA6): c.910_911delGGinsAA (p.Gly304Lys) indel Pathogenic rs151341424 GRCh37 Chromosome 15, 74483197: 74483198
23 STRA6 NM_001142617.1(STRA6): c.1678G> C (p.Asp560His) single nucleotide variant Pathogenic rs397514638 GRCh37 Chromosome 15, 74473642: 74473642
24 STRA6 NM_001142617.1(STRA6): c.1678G> C (p.Asp560His) single nucleotide variant Pathogenic rs397514638 GRCh38 Chromosome 15, 74181301: 74181301
25 STRA6 NM_022369.3(STRA6): c.1964G> A (p.Arg655His) single nucleotide variant Likely pathogenic rs397514639 GRCh37 Chromosome 15, 74472461: 74472461
26 STRA6 NM_022369.3(STRA6): c.1964G> A (p.Arg655His) single nucleotide variant Likely pathogenic rs397514639 GRCh38 Chromosome 15, 74180120: 74180120
27 STRA6 NM_001142617.1(STRA6): c.1521-1G> A single nucleotide variant Pathogenic rs397518484 GRCh37 Chromosome 15, 74473800: 74473800
28 STRA6 NM_001142617.1(STRA6): c.1521-1G> A single nucleotide variant Pathogenic rs397518484 GRCh38 Chromosome 15, 74181459: 74181459
29 STRA6 NM_022369.3(STRA6): c.1223G> A (p.Arg408Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150814749 GRCh37 Chromosome 15, 74476274: 74476274
30 STRA6 NM_022369.3(STRA6): c.1223G> A (p.Arg408Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150814749 GRCh38 Chromosome 15, 74183933: 74183933
31 STRA6 NM_022369.3(STRA6): c.1385delA (p.Asn462Thrfs) deletion Pathogenic rs794727153 GRCh37 Chromosome 15, 74474717: 74474717
32 STRA6 NM_022369.3(STRA6): c.1385delA (p.Asn462Thrfs) deletion Pathogenic rs794727153 GRCh38 Chromosome 15, 74182376: 74182376
33 STRA6 NM_022369.3(STRA6): c.1903G> A (p.Gly635Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145614612 GRCh38 Chromosome 15, 74180181: 74180181
34 STRA6 NM_022369.3(STRA6): c.1903G> A (p.Gly635Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145614612 GRCh37 Chromosome 15, 74472522: 74472522
35 STRA6 NM_022369.3(STRA6): c.1416G> A (p.Ser472=) single nucleotide variant Benign/Likely benign rs351241 GRCh38 Chromosome 15, 74182345: 74182345
36 STRA6 NM_022369.3(STRA6): c.1416G> A (p.Ser472=) single nucleotide variant Benign/Likely benign rs351241 GRCh37 Chromosome 15, 74474686: 74474686
37 STRA6 NM_022369.3(STRA6): c.91G> A (p.Gly31Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs111489755 GRCh38 Chromosome 15, 74202177: 74202177
38 STRA6 NM_022369.3(STRA6): c.91G> A (p.Gly31Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs111489755 GRCh37 Chromosome 15, 74494518: 74494518
39 STRA6 NM_022369.3(STRA6): c.1957G> A (p.Val653Ile) single nucleotide variant Uncertain significance rs150687411 GRCh38 Chromosome 15, 74180127: 74180127
40 STRA6 NM_022369.3(STRA6): c.1957G> A (p.Val653Ile) single nucleotide variant Uncertain significance rs150687411 GRCh37 Chromosome 15, 74472468: 74472468
41 STRA6 NM_001142618.1(STRA6): c.113+3_113+4del deletion Pathogenic GRCh38 Chromosome 15, 74202151: 74202152
42 STRA6 NM_001142618.1(STRA6): c.113+3_113+4del deletion Pathogenic GRCh37 Chromosome 15, 74494492: 74494493
43 STRA6 NM_022369.3(STRA6): c.1391T> G (p.Leu464Arg) single nucleotide variant Likely benign rs201408425 GRCh38 Chromosome 15, 74182370: 74182370
44 STRA6 NM_022369.3(STRA6): c.1391T> G (p.Leu464Arg) single nucleotide variant Likely benign rs201408425 GRCh37 Chromosome 15, 74474711: 74474711
45 STRA6 NM_022369.3(STRA6): c.173C> T (p.Ser58Leu) single nucleotide variant Benign rs142105038 GRCh38 Chromosome 15, 74197759: 74197759
46 STRA6 NM_022369.3(STRA6): c.173C> T (p.Ser58Leu) single nucleotide variant Benign rs142105038 GRCh37 Chromosome 15, 74490100: 74490100
47 STRA6 NM_022369.3(STRA6): c.597+6C> T single nucleotide variant Likely benign rs374631703 GRCh38 Chromosome 15, 74195296: 74195296
48 STRA6 NM_022369.3(STRA6): c.597+6C> T single nucleotide variant Likely benign rs374631703 GRCh37 Chromosome 15, 74487637: 74487637
49 STRA6 NM_022369.3(STRA6): c.367G> C (p.Ala123Pro) single nucleotide variant Benign rs115067613 GRCh38 Chromosome 15, 74196047: 74196047
50 STRA6 NM_022369.3(STRA6): c.367G> C (p.Ala123Pro) single nucleotide variant Benign rs115067613 GRCh37 Chromosome 15, 74488388: 74488388

Copy number variations for Microphthalmia, Syndromic 9 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 94759 15 70400000 73100000 Copy number STRA6 Matthew-Wood syndrome

Expression for Microphthalmia, Syndromic 9

Search GEO for disease gene expression data for Microphthalmia, Syndromic 9.

Pathways for Microphthalmia, Syndromic 9

GO Terms for Microphthalmia, Syndromic 9

Cellular components related to Microphthalmia, Syndromic 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.62 FREM2 SMOC1

Biological processes related to Microphthalmia, Syndromic 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.37 FREM2 STRA6
2 lung development GO:0030324 9.32 FGF10 STRA6
3 limb development GO:0060173 9.26 FGF10 SMOC1
4 lung alveolus development GO:0048286 9.16 FGF10 STRA6
5 eye development GO:0001654 8.96 FREM2 SMOC1
6 embryonic digestive tract development GO:0048566 8.62 FGF10 STRA6

Sources for Microphthalmia, Syndromic 9

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
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44 MeSH
45 MESH via Orphanet
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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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