MCOPS9
MCID: MCR256
MIFTS: 61

Microphthalmia, Syndromic 9 (MCOPS9)

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

Aliases & Classifications for Microphthalmia, Syndromic 9

MalaCards integrated aliases for Microphthalmia, Syndromic 9:

Name: Microphthalmia, Syndromic 9 57
Matthew-Wood Syndrome 57 12 58 72 29 6
Microphthalmia, Isolated, with Coloboma 8 57 29 13 6 70
Anophthalmia/microphthalmia and Pulmonary Hypoplasia 57 12 20 72
Spear Syndrome 57 12 20 72
Mcops9 57 20 58 72
Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformations of the Lung, Heart, and Diaphragm 57 72
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart and Diaphragm Malformations 12 20
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect 57 72
Pulmonary Agenesis, Microphthalmia, and Diaphragmatic Defect 57 72
Pulmonary Agenesis Microphthalmi and Diaphragmatic Defect 12 20
Anophthalmia-Pulmonary Hypoplasia Syndrome 12 58
Syndromic Microphthalmia 9 12 15
Pdac 57 72
Pmd 57 72
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect; Pdac 57
Pulmonary Agenesis, Microphthalmia, and Diaphragmatic Defect; Pmd 57
Microphthalmia, Isolated, with Coloboma, 8 72
Isolated Colobomatous Microphthalmia 8 72
Anophthalmia with Pulmonary Hypoplasia 44
Anophthalmia and Pulmonary Hypoplasia 70
Microphthalmia Syndromic, Type 9 39
Syndromic Microphthalmia Type 9 58
Microphthalmia, Syndromic, 9 72
Microphthalmia Syndromic 9 20
Matthew Wood Syndrome 20
Mcopcb8 72

Characteristics:

Orphanet epidemiological data:

58
matthew-wood syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile,stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early lethality in most cases


HPO:

31
microphthalmia, syndromic 9:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare respiratory diseases
Developmental anomalies during embryogenesis


Summaries for Microphthalmia, Syndromic 9

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2470 Definition Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Epidemiology Only five cases have been reported so far, two of whom were sibs. Clinical description One 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 recessive gene 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.

MalaCards based summary : Microphthalmia, Syndromic 9, also known as matthew-wood syndrome, is related to diaphragmatic eventration and microphthalmia. An important gene associated with Microphthalmia, Syndromic 9 is STRA6 (Signaling Receptor And Transporter Of Retinol STRA6), and among its related pathways/superpathways are Signaling by GPCR and Drug metabolism - cytochrome P450. The drugs Levoleucovorin and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and spleen, and related phenotypes are intellectual disability and anophthalmia

Disease Ontology : 12 A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has material basis in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 Syndromic Microphthalmia family:

Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13 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 top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic eventration 30.1 STRA6 RARB
2 microphthalmia 28.7 WNT7B VSX2 STRA6 RDH5 RBP4 RARB
3 pelizaeus-merzbacher disease 11.7
4 spastic paraplegia 2, x-linked 11.2
5 pelizaeus-merzbacher-like disease 11.1
6 pancreatic cancer 5 11.1
7 hypomyelinating leukodystrophy 11.1
8 pelizaeus-merzbacher disease, classic form 10.9
9 pelizaeus-merzbacher disease, transitional form 10.9
10 leukodystrophy, hypomyelinating, 3 10.9
11 pellucid marginal degeneration 10.9
12 pancreatic ductal adenocarcinoma 10.9
13 pancreatic cancer 10.6
14 adenocarcinoma 10.5
15 fryns microphthalmia syndrome 10.5
16 patent ductus arteriosus 1 10.5
17 pancreatic adenocarcinoma 10.4
18 microphthalmia, syndromic 8 10.2 VSX2 STRA6
19 leber congenital amaurosis 14 10.2 RDH12 LRAT
20 leber congenital amaurosis 5 10.2 RDH12 LRAT
21 microphthalmia, isolated 3 10.2 VSX2 STRA6
22 keratomalacia 10.2 RBP4 RARB LRAT
23 microphthalmia, isolated 2 10.2 VSX2 STRA6
24 xerophthalmia 10.2 RBP1 LRAT
25 leber congenital amaurosis 9 10.2 RDH12 LRAT
26 leukodystrophy 10.2
27 paraplegia 10.2
28 muscular dystrophy 10.2
29 progressive muscular dystrophy 10.2
30 leber congenital amaurosis 13 10.1 RDH12 RDH11
31 tetralogy of fallot 10.1
32 duodenal atresia 10.1
33 autosomal recessive disease 10.1
34 respiratory failure 10.1
35 dextrocardia 10.1
36 plp1 disorders 10.1
37 diaphragmatic hernia, congenital 10.1 STRA6 RBP1 RARB ALDH1A2
38 newfoundland rod-cone dystrophy 10.1 RDH5 LRAT
39 leber congenital amaurosis 3 10.1 RDH12 LRAT
40 hypervitaminosis a 10.1 STRA6 RBP4 RBP1 LRAT
41 pancreatitis 10.1
42 leber congenital amaurosis 4 10.0 RDH12 LRAT
43 eye degenerative disease 10.0 VSX2 RDH12 LRAT
44 rapidly involuting congenital hemangioma 10.0
45 thrombocytopenia 10.0
46 choanal atresia, posterior 10.0 RDH10 ALDH1A3
47 microphthalmia, syndromic 3 9.9 VSX2 STRA6 GDF6
48 retinal disease 9.9 RGR RDH5 RDH12 LRAT
49 cone dystrophy 9.9 RGR RDH5 RDH12 LRAT
50 triiodothyronine receptor auxiliary protein 9.9

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



Diseases related to Microphthalmia, Syndromic 9

Symptoms & Phenotypes for Microphthalmia, Syndromic 9

Human phenotypes related to Microphthalmia, Syndromic 9:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
3 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
4 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
5 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
6 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680
7 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
8 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
9 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
10 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
11 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
12 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
13 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
14 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
15 duodenal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100867
16 annular pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001734
17 aplasia/hypoplasia of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0100800
18 abnormal spleen morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0025408
19 truncus arteriosus 31 occasional (7.5%) HP:0001660
20 hypotonia 31 occasional (7.5%) HP:0001252
21 muscular hypotonia 58 Occasional (29-5%)
22 respiratory insufficiency 31 HP:0002093
23 inguinal hernia 31 HP:0000023
24 wide nasal bridge 31 HP:0000431
25 short stature 31 HP:0004322
26 micrognathia 31 HP:0000347
27 atrial septal defect 31 HP:0001631
28 coarctation of aorta 31 HP:0001680
29 tetralogy of fallot 31 HP:0001636
30 patent ductus arteriosus 31 HP:0001643
31 hydronephrosis 31 HP:0000126
32 ventricular septal defect 31 HP:0001629
33 pelvic kidney 31 HP:0000125
34 blepharophimosis 31 HP:0000581
35 pulmonic stenosis 31 HP:0001642
36 abnormal lung morphology 58 Frequent (79-30%)
37 intellectual disability, profound 31 HP:0002187
38 generalized hypotonia 31 HP:0001290
39 bicornuate uterus 31 HP:0000813
40 hypoplasia of the uterus 31 HP:0000013
41 renal malrotation 31 HP:0004712
42 pulmonary artery atresia 31 HP:0004935
43 bilateral lung agenesis 31 HP:0005944
44 bilateral microphthalmos 31 HP:0007633
45 diaphragmatic eventration 31 HP:0009110
46 single ventricle 31 HP:0001750
47 hypoplastic spleen 31 HP:0006270
48 right aortic arch with mirror image branching 31 HP:0002627
49 hypoplastic left atrium 31 HP:0005156
50 agenesis of pulmonary vessels 31 HP:0005311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
respiratory insufficiency
alveolar capillary dysplasia
pulmonary hypoplasia, usually bilateral
pulmonary agenesis, usually bilateral
unilobular lung

Growth Height:
short stature

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis
pelvic kidney
hypoplastic kidney
malrotation of kidney
more
Cardiovascular Vascular:
patent ductus arteriosus
agenesis of pulmonary vessels
tetralogy of fallot (rare)
pulmonary artery atresia (rare)
right aortic arch (rare)
more
Abdomen Spleen:
hypoplastic spleen
multilobulated spleen

Head And Neck Eyes:
anophthalmia, clinical
microphthalmia, bilateral (isolated feature in some patients)
blepharophimosis (uncommon)
broad, flared eyebrows
only upward-growing eyebrows (uncommon)
more
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 Feet:
claw-like toes (in some patients)

Genitourinary External Genitalia Male:
inguinal hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
single ventricle
hypoplastic left atrium
dilation of atrium
more
Chest Diaphragm:
diaphragmatic eventration
diaphragmatic hernia

Neurologic Central Nervous System:
hypotonia
mental retardation, profound

Growth Other:
intrauterine growth retardation (iugr)

Head And Neck Face:
micrognathia (uncommon)

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

Skeletal Hands:
digital contractures (in some patients)

Clinical features from OMIM®:

601186 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microphthalmia, Syndromic 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 ALDH1A2 GDF6 LRAT RARB RBP1 RBP4
2 vision/eye MP:0005391 9.53 ALDH1A2 ALDH1A3 GDF6 LRAT RARB RBP1
3 pigmentation MP:0001186 9.35 RBP1 RBP4 RDH8 STRA6 VSX2

Drugs & Therapeutics for Microphthalmia, Syndromic 9

Drugs for Microphthalmia, Syndromic 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
2
Fluorouracil Approved Phase 3 51-21-8 3385
3
Gemcitabine Approved Phase 2 95058-81-4 60750
4
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
5
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
6
leucovorin Approved Phase 2 58-05-9 6006
7
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
8
nivolumab Approved Phase 1, Phase 2 946414-94-4
9
Pembrolizumab Approved Phase 2 1374853-91-4
10
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
11
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13 Tubulin Modulators Phase 1, Phase 2
14 Antimitotic Agents Phase 1, Phase 2
15 Albumin-Bound Paclitaxel Phase 2
16 Vitamin B9 Phase 2
17 Folate Phase 2
18 Antineoplastic Agents, Immunological Phase 1, Phase 2
19 Immunoglobulins Phase 1, Phase 2
20 Antibodies Phase 1, Phase 2
21 Vaccines Phase 1, Phase 2
22 Antibodies, Monoclonal Phase 1, Phase 2
23 topoisomerase I inhibitors Phase 1
24 Antidotes Phase 1
25 Nutrients Phase 1
26 Trace Elements Phase 1
27 Micronutrients Phase 1
28 Vitamin B Complex Phase 1
29 Vitamins Phase 1
30 Folfirinox Phase 1
31 Protective Agents Phase 1
32
Pancrelipase Approved, Investigational 53608-75-6
33
Secretin Approved 108153-74-8
34 Liver Extracts
35 Antirheumatic Agents Early Phase 1
36 Interleukin 1 Receptor Antagonist Protein Early Phase 1
37 pancreatin
38 protein S

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Second-line Therapy With Nal-IRI After Failure Gemcitabine/Nab-paclitaxel in Advanced Pancreatic Cancer - Predictive Role of 1st-line Therapy Recruiting NCT03468335 Phase 3 Irinotecan Liposomal Injection [Onivyde]
2 Perioperative Therapy for Resectable Pancreatic Adenocarcinoma and Borderline Resectable Pancreatic Adenocarcinoma With Molecular Correlates Recruiting NCT02723331 Phase 2 Nab-paclitaxel and gemcitabine for R-PDAC Patients;Nab-paclitaxel and gemcitabine for BR-PDAC Patients
3 Impact of Tumor and Stromal Subtypes on Efficacy of Neoadjuvant FOLFIRINOX in Subjects With Non-Metastatic Pancreatic Cancer Recruiting NCT03977233 Phase 2 Oxaliplatin;Leucovorin;Irinotecan Hydrochloride;5-FU
4 A Phase I/II Trial of Combination Immunotherapy With Nivolumab and a CCR2/CCR5 Dual Antagonist (BMS-813160) With or Without GVAX Following Chemotherapy and Radiotherapy for Locally Advanced Pancreatic Ductal Adenocarcinomas (PDACs). Recruiting NCT03767582 Phase 1, Phase 2 Nivolumab;CCR2/CCR5 dual antagonist;GVAX
5 A Randomized Phase II Study of Pembrolizumab With or Without Defactinib, a Focal Adhesion Kinase Inhibitor Following Chemotherapy as a Neoadjuvant and Adjuvant Treatment for Resectable Pancreatic Ductal Adenocarcinoma (PDAC) Recruiting NCT03727880 Phase 2 Pembrolizumab;Defactinib
6 PRIMUS002: An Umbrella Phase II Study Examining Two Neo-adjuvant Regimens (FOLFOX-A and AG) in Resectable and Borderline Resectable Pancreatic Ductal AdenoCarcinoma (PDAC), Focusing on Biomarker and Liquid Biopsy Development Recruiting NCT04176952 Phase 2 FOLFOX-A;AG
7 A Randomized Phase II Trial of Short-course Versus Long-course Pre-operative Chemotherapy With mFOLFIRINOX or PAXG Regimen for Stage I-III Pancreatic Ductal Adenocarcinoma (PDAC) Recruiting NCT04793932 Phase 2 PAXG;mFOLFIRINOX;short-course chemotherapy;long-course chemotherapy
8 A Phase I/II Study to Evaluate the Tolerability and Efficacy of BMS-813160 (CCR2/5 Inhibitor) With Nivolumab and Gemcitabine and Nab-paclitaxel in Borderline Resectable and Locally Advanced Pancreatic Ductal Adenocarcinoma (PDAC) Recruiting NCT03496662 Phase 1, Phase 2 BMS-813160;Nivolumab;Gemcitabine;Nab-paclitaxel
9 Hyperthermic Intraperitoneal Chemotherapy as Neoadjuvant Treatment for Resectable Pancreatic Adenocarcinoma: A Prospective, Phase II, Proof-of-concept Study Withdrawn NCT02850874 Phase 2 Gemcitabine
10 Phase I Study of Lonsurf in Combination With Gemcitabine and Nab-Paclitaxel in Patients With Advanced Pancreatic Ductal Adenocarcinoma (PDAC) Recruiting NCT04046887 Phase 1 Lonsurf;Gemcitabine;Nab-Paclitaxel
11 Perioperative FOLFIRINOX for Patients With Resectable Pancreatic Adenocarcinoma: A Pilot Study Terminated NCT02782182 Phase 1 FOLFIRINOX (oxaliplatin, leucovorin, irinotecan)
12 Diagnostic Accuracy of Circulating Tumor Cells (CTCs) and Onco-exosome Quantification in the Diagnosis of Pancreatic Cancer - PANC-CTC Completed NCT03032913
13 Oncologic Impact of Pancreatic Fistula After Distal Pancreatectomy for Pancratic Ductal Adenocarcinoma oh the Body and the Tail : a Multicentre Retrospective Cohort Analysis / POPF-DSS (Postoperative Pancreatic Fistula - Disease Specific Survival) Completed NCT04348084
14 The Microbiome of Pancreatic Cancer: "PANDEMIC" Study Recruiting NCT04274972
15 MRI Imaging to Predict Outcomes of Treatment in PDAC Patients Recruiting NCT04700488
16 Advanced Immune Gene and Cell Therapies for Liver Metastases Recruiting NCT04622423
17 A Prospective Translational Tissue Collection Study in Early and Advanced Pancreatic Ductal Adenocarcinoma (PDAC) and Pancreatic Neuroendocrine Tumours (PanNETs) to Enable Further Disease Characterisation and the Development of Potential Predictive and Prognostic Biomarkers Recruiting NCT03840460
18 Early Detection of Pancreatic Adenocarcinoma (PDAC) Using a Panel of Biomarkers (UroPanc) Active, not recruiting NCT04449406
19 Comprehensive Molecular Characterization of Advanced Pancreatic Ductal Adenocarcinomas (PDAC) for Better Treatment Selection: A Prospective Study Active, not recruiting NCT02750657
20 A Pilot Study of Gemcitabine, Nab-Paclitaxel, Cisplatin and Anakinra Treatment on Patients With Resectable or Potentially Resectable Pancreatic Adenocarcinoma (PDAC) Active, not recruiting NCT02550327 Early Phase 1 Nab-paclitaxel;Gemcitabine;Cisplatin;Anakinra
21 Identification of Predictive Plasma Biomarkers in Pancreatic Ductal Adenocarcinoma (PDAC Plasma Biomarker Study) Active, not recruiting NCT02050997
22 A Randomized Controlled Trial of Algorithm-based Screening in Patients With New Onset Hyperglycemia and Diabetes for Early Detection of Pancreatic Ductal Adenocarcinoma (Early Detection Initiative (EDI) for Pancreatic Cancer) Not yet recruiting NCT04662879
23 Discovery of Soluble Biomarkers for Pancreatic Cancer Using Innovative All-Patient Inclusive Methodology (PanEXPEL2) Not yet recruiting NCT04370574
24 RPSA as a Potential Prognostic Biomarker of PDAC Not yet recruiting NCT04575363
25 Integrative Proteomic Characterization of Pancreatic Ductal Adenocarcinoma Not yet recruiting NCT04525209
26 Evaluating LINFU™: A Noninvasive Method for Increasing Exfoliation of Pancreatic Ductal Cells Into the Pancreatic Fluid for the Early Detection Pancreatic Ductal Adenocarcinoma (PDAC) Not yet recruiting NCT04793633

Search NIH Clinical Center for Microphthalmia, Syndromic 9

Cochrane evidence based reviews: anophthalmia with pulmonary hypoplasia

Genetic Tests for Microphthalmia, Syndromic 9

Genetic tests related to Microphthalmia, Syndromic 9:

# Genetic test Affiliating Genes
1 Matthew-Wood Syndrome 29 STRA6
2 Microphthalmia, Isolated, with Coloboma 8 29

Anatomical Context for Microphthalmia, Syndromic 9

MalaCards organs/tissues related to Microphthalmia, Syndromic 9:

40
Eye, Heart, Spleen, Uterus, Lung, Kidney, Retina

Publications for Microphthalmia, Syndromic 9

Articles related to Microphthalmia, Syndromic 9:

(show all 40)
# Title Authors PMID Year
1
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. 6 61 57
26373900 2016
2
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. 61 57 6
21901792 2011
3
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. 6 57 61
17503335 2007
4
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. 6 57
22686418 2013
5
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? 57 6
19839040 2009
6
Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. 57 6
19213032 2009
7
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 57 6
17273977 2007
8
Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom. 57 6
11857549 2002
9
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. 61 6
19309693 2009
10
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. 61 57
17506106 2007
11
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. 61 57
17236193 2007
12
A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). 61 57
16761298 2006
13
Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). 61 57
8882778 1996
14
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 6
27120018 2016
15
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. 6
24075189 2013
16
Another patient with pulmonary hypoplasia, microphthalmia and diaphragmatic hernia. 57
16317309 2006
17
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
18
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57
15389708 2005
19
Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case. 57
15127767 2004
20
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 57
12543751 2003
21
Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association? 57
10440821 1999
22
Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. 57
7894732 1994
23
Pulmonary agenesis association with nonimmune hydrops. 57
2690040 1989
24
Bilateral pulmonary agenesis and microphthalmia. 57
3130872 1987
25
Bilateral pulmonary agenesis. 57
724287 1978
26
A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome. 61
30480585 2019
27
Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. 61
29168296 2018
28
Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. 61
28398665 2017
29
MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS. 61
30204971 2016
30
STRA6: role in cellular retinol uptake and efflux. 61
26312242 2015
31
Production of functional human vitamin A transporter/RBP receptor (STRA6) for structure determination. 61
25816144 2015
32
The genetics of common disorders - congenital diaphragmatic hernia. 61
24793812 2014
33
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. 61
23591992 2013
34
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. 61
22283518 2013
35
Retinaldehyde dehydrogenase 2 is down-regulated during duodenal atresia formation in Fgfr2IIIb-/- mice. 61
21492869 2012
36
Eye development genes and known syndromes. 61
22005280 2011
37
Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association. 61
20704474 2010
38
Vitamin A deficiency in an infant with PAGOD syndrome. 61
19760653 2009
39
RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome. 61
18316031 2008
40
Newborn with anophthalmia and features of Fryns syndrome. 61
12375132 2002

Variations for Microphthalmia, Syndromic 9

ClinVar genetic disease variations for Microphthalmia, Syndromic 9:

6 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RARB NM_000965.4(RARB):c.355C>T (p.Arg119Ter) SNV Pathogenic 88760 rs397518481 GRCh37: 3:25542721-25542721
GRCh38: 3:25501230-25501230
2 RARB NM_000965.4(RARB):c.1203_1204TC[3] (p.Ile403fs) Microsatellite Pathogenic 88761 rs397518482 GRCh37: 3:25637961-25637962
GRCh38: 3:25596470-25596471
3 RARB NM_000965.4(RARB):c.1159C>A (p.Arg387Ser) SNV Pathogenic 88763 rs397518483 GRCh37: 3:25637919-25637919
GRCh38: 3:25596428-25596428
4 WNT7B NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter) SNV Pathogenic 437887 rs1569119395 GRCh37: 22:46345806-46345806
GRCh38: 22:45949926-45949926
5 STRA6 NM_022369.4(STRA6):c.878C>T (p.Pro293Leu) SNV Pathogenic 1133 rs118203958 GRCh37: 15:74483230-74483230
GRCh38: 15:74190889-74190889
6 STRA6 NM_022369.4(STRA6):c.147del (p.Gly50fs) Deletion Pathogenic 1134 rs606231125 GRCh37: 15:74490126-74490126
GRCh38: 15:74197785-74197785
7 STRA6 NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) SNV Pathogenic 1136 rs118203960 GRCh37: 15:74472494-74472494
GRCh38: 15:74180153-74180153
8 STRA6 NM_022369.4(STRA6):c.269C>T (p.Pro90Leu) SNV Pathogenic 1137 rs118203961 GRCh37: 15:74488486-74488486
GRCh38: 15:74196145-74196145
9 STRA6 NM_022369.4(STRA6):c.961A>C (p.Thr321Pro) SNV Pathogenic 1138 rs118203962 GRCh37: 15:74481585-74481585
GRCh38: 15:74189244-74189244
10 STRA6 NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs) Indel Pathogenic 1139 rs606231126 GRCh37: 15:74494557-74494559
GRCh38: 15:74202216-74202218
11 STRA6 NM_022369.4(STRA6):c.35_36dup (p.Gly13fs) Duplication Pathogenic 1141 rs1555457919 GRCh37: 15:74494572-74494573
GRCh38: 15:74202231-74202232
12 STRA6 NM_022369.4(STRA6):c.69G>A (p.Trp23Ter) SNV Pathogenic 1142 rs267607096 GRCh37: 15:74494540-74494540
GRCh38: 15:74202199-74202199
13 STRA6 NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys) Indel Pathogenic 39742 rs151341424 GRCh37: 15:74483197-74483198
GRCh38: 15:74190856-74190857
14 STRA6 NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys) Indel Pathogenic 39742 rs151341424 GRCh37: 15:74483197-74483198
GRCh38: 15:74190856-74190857
15 STRA6 NM_022369.4(STRA6):c.1678G>C (p.Asp560His) SNV Pathogenic 40078 rs397514638 GRCh37: 15:74473642-74473642
GRCh38: 15:74181301-74181301
16 STRA6 NM_022369.4(STRA6):c.1521-1G>A SNV Pathogenic 88764 rs397518484 GRCh37: 15:74473800-74473800
GRCh38: 15:74181459-74181459
17 STRA6 NM_022369.4(STRA6):c.113+3_113+4del Deletion Pathogenic 446174 rs1555457882 GRCh37: 15:74494492-74494493
GRCh38: 15:74202151-74202152
18 STRA6 NM_022369.4(STRA6):c.1676dup (p.Asp560fs) Duplication Pathogenic 572841 rs1567177198 GRCh37: 15:74473643-74473644
GRCh38: 15:74181302-74181303
19 STRA6 NM_022369.4(STRA6):c.438G>A (p.Trp146Ter) SNV Pathogenic 915291 GRCh37: 15:74487802-74487802
GRCh38: 15:74195461-74195461
20 STRA6 NM_022369.4(STRA6):c.481del (p.Leu161fs) Deletion Pathogenic 936558 GRCh37: 15:74487759-74487759
GRCh38: 15:74195418-74195418
21 STRA6 NM_022369.4(STRA6):c.347del (p.Leu116fs) Deletion Pathogenic 984924 GRCh37: 15:74488408-74488408
GRCh38: 15:74196067-74196067
22 STRA6 NM_022369.4(STRA6):c.1301-6T>A SNV Pathogenic 984925 GRCh37: 15:74474807-74474807
GRCh38: 15:74182466-74182466
23 STRA6 NM_022369.4(STRA6):c.527dup (p.Ser177fs) Duplication Pathogenic 1140 rs606231127 GRCh37: 15:74487712-74487713
GRCh38: 15:74195371-74195372
24 STRA6 NM_022369.4(STRA6):c.1964G>A (p.Arg655His) SNV Pathogenic 40079 rs397514639 GRCh37: 15:74472461-74472461
GRCh38: 15:74180120-74180120
25 STRA6 NM_022369.4(STRA6):c.267-1G>T SNV Pathogenic 998321 GRCh37: 15:74488489-74488489
GRCh38: 15:74196148-74196148
26 STRA6 NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys) SNV Pathogenic 1135 rs118203959 GRCh37: 15:74472462-74472462
GRCh38: 15:74180121-74180121
27 STRA6 NM_022369.4(STRA6):c.62dup (p.Ser22fs) Duplication Pathogenic 1030805 GRCh37: 15:74494546-74494547
GRCh38: 15:74202205-74202206
28 RARB NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) SNV Pathogenic/Likely pathogenic 88762 rs397518483 GRCh37: 3:25637919-25637919
GRCh38: 3:25596428-25596428
29 STRA6 NM_022369.4(STRA6):c.1418+1_1418+3del Microsatellite Likely pathogenic 951027 GRCh37: 15:74474681-74474683
GRCh38: 15:74182340-74182342
30 STRA6 NM_022369.4(STRA6):c.431-2A>G SNV Likely pathogenic 956260 GRCh37: 15:74487811-74487811
GRCh38: 15:74195470-74195470
31 RARB NM_000965.4(RARB):c.835T>G (p.Phe279Val) SNV Likely pathogenic 870386 GRCh37: 3:25635042-25635042
GRCh38: 3:25593551-25593551
32 RARB NM_000965.5(RARB):c.1151G>A (p.Gly384Asp) SNV Likely pathogenic 988076 GRCh37: 3:25637911-25637911
GRCh38: 3:25596420-25596420
33 RARB NM_000965.4(RARB):c.887G>C (p.Gly296Ala) SNV Likely pathogenic 218338 rs869025221 GRCh37: 3:25635094-25635094
GRCh38: 3:25593603-25593603
34 RARB NM_000965.4(RARB):c.638T>C (p.Leu213Pro) SNV Likely pathogenic 218339 rs869025222 GRCh37: 3:25622065-25622065
GRCh38: 3:25580574-25580574
35 RARB NM_000965.4(RARB):c.872A>T (p.His291Leu) SNV Likely pathogenic 559901 rs1553637470 GRCh37: 3:25635079-25635079
GRCh38: 3:25593588-25593588
36 RARB NM_001290216.2(RARB):c.1201G>T (p.Glu401Ter) SNV Likely pathogenic 800775 rs1575553528 GRCh37: 3:25637940-25637940
GRCh38: 3:25596449-25596449
37 STRA6 NM_022369.4(STRA6):c.993G>A (p.Thr331=) SNV Conflicting interpretations of pathogenicity 317107 rs116753967 GRCh37: 15:74481553-74481553
GRCh38: 15:74189212-74189212
38 STRA6 NM_022369.4(STRA6):c.1685-5C>G SNV Conflicting interpretations of pathogenicity 317100 rs201730717 GRCh37: 15:74473283-74473283
GRCh38: 15:74180942-74180942
39 STRA6 NM_022369.4(STRA6):c.357C>T (p.Pro119=) SNV Conflicting interpretations of pathogenicity 287343 rs139775570 GRCh37: 15:74488398-74488398
GRCh38: 15:74196057-74196057
40 STRA6 NM_022369.4(STRA6):c.1242C>T (p.Arg414=) SNV Conflicting interpretations of pathogenicity 708447 rs568924861 GRCh37: 15:74476255-74476255
GRCh38: 15:74183914-74183914
41 STRA6 NM_022369.4(STRA6):c.1566G>T (p.Val522=) SNV Conflicting interpretations of pathogenicity 317101 rs886051474 GRCh37: 15:74473754-74473754
GRCh38: 15:74181413-74181413
42 STRA6 NM_022369.4(STRA6):c.1957G>A (p.Val653Ile) SNV Uncertain significance 317095 rs150687411 GRCh37: 15:74472468-74472468
GRCh38: 15:74180127-74180127
43 STRA6 NM_022369.4(STRA6):c.1300+10C>T SNV Uncertain significance 885821 GRCh37: 15:74476187-74476187
GRCh38: 15:74183846-74183846
44 STRA6 NM_022369.4(STRA6):c.-83G>A SNV Uncertain significance 885886 GRCh37: 15:74495121-74495121
GRCh38: 15:74202780-74202780
45 STRA6 NM_022369.4(STRA6):c.*10A>C SNV Uncertain significance 886754 GRCh37: 15:74472411-74472411
GRCh38: 15:74180070-74180070
46 STRA6 NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala) SNV Uncertain significance 886755 GRCh37: 15:74472558-74472558
GRCh38: 15:74180217-74180217
47 STRA6 NM_022369.4(STRA6):c.945G>A (p.Leu315=) SNV Uncertain significance 886826 GRCh37: 15:74481601-74481601
GRCh38: 15:74189260-74189260
48 STRA6 NM_022369.4(STRA6):c.741T>G (p.Ser247=) SNV Uncertain significance 886827 GRCh37: 15:74483812-74483812
GRCh38: 15:74191471-74191471
49 STRA6 NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) SNV Uncertain significance 886828 GRCh37: 15:74486253-74486253
GRCh38: 15:74193912-74193912
50 STRA6 NM_022369.4(STRA6):c.*582T>C SNV Uncertain significance 887961 GRCh37: 15:74471839-74471839
GRCh38: 15:74179498-74179498

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

72
# 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

Copy number variations for Microphthalmia, Syndromic 9 from CNVD:

7
# CNVD ID Chromosome 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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 WNT7B STRA6 SDR9C7 RGR RDH8 RDH5
2
Show member pathways
12.74 RDH8 RDH5 RDH12 RDH11 RDH10 LRAT
3
Show member pathways
12.38 RDH11 RBP4 RBP1 LRAT
4
Show member pathways
12.19 STRA6 SDR9C7 RDH8 RDH5 RDH12 RDH11
5
Show member pathways
11.87 RDH5 RDH12 LRAT
6 11.83 RDH8 RDH5 RDH12 RDH11 RDH10 RBP4
7
Show member pathways
11.62 RDH5 RDH11 RDH10 RARB ALDH1A3 ALDH1A2
8 11.3 RDH8 RDH5 RDH12 RDH10 RBP4 RBP1
9
Show member pathways
11.06 STRA6 SDR9C7 RDH8 RDH5 RDH12 RDH11
10
Show member pathways
10.91 STRA6 RBP4 RBP1
11
Show member pathways
10.78 RBP4 RBP1 ALDH1A3 ALDH1A2

GO Terms for Microphthalmia, Syndromic 9

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.01 SDR9C7 RDH8 RDH5 RDH12 RDH11 RDH10
2 response to stimulus GO:0050896 10 VSX2 RGR RDH8 RDH5 RDH12 RBP4
3 lung development GO:0030324 9.81 WNT7B STRA6 RBP4 ALDH1A2
4 visual perception GO:0007601 9.76 VSX2 RGR RDH8 RDH5 RDH12 RDH10
5 retinoic acid metabolic process GO:0042573 9.7 RBP1 ALDH1A3 ALDH1A2
6 response to vitamin A GO:0033189 9.67 RBP1 LRAT ALDH1A2
7 embryonic digestive tract development GO:0048566 9.65 STRA6 RARB ALDH1A2
8 retinal metabolic process GO:0042574 9.62 RDH11 RDH10 ALDH1A3 ALDH1A2
9 neural crest cell development GO:0014032 9.61 RDH10 ALDH1A2
10 embryonic camera-type eye development GO:0031076 9.61 RDH10 ALDH1A3 ALDH1A2
11 cardiac muscle tissue development GO:0048738 9.6 RBP4 ALDH1A2
12 retinoic acid receptor signaling pathway GO:0048384 9.59 RARB ALDH1A2
13 face development GO:0060324 9.58 ALDH1A3 ALDH1A2
14 ear development GO:0043583 9.58 STRA6 RDH10
15 embryonic eye morphogenesis GO:0048048 9.57 RARB ALDH1A3
16 nose development GO:0043584 9.56 RDH10 ALDH1A3
17 retinoic acid biosynthetic process GO:0002138 9.56 RDH10 RBP1 ALDH1A3 ALDH1A2
18 retinoid metabolic process GO:0001523 9.56 STRA6 RDH5 RDH12 RDH11 RDH10 RBP4
19 cellular detoxification of aldehyde GO:0110095 9.55 RDH12 RDH11
20 retinol transport GO:0034633 9.54 STRA6 RBP4
21 vitamin A metabolic process GO:0006776 9.54 RBP1 LRAT ALDH1A2
22 retinol metabolic process GO:0042572 9.32 RDH8 RDH5 RDH12 RDH11 RDH10 RBP4

Molecular functions related to Microphthalmia, Syndromic 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.92 SDR9C7 RDH8 RDH5 RDH12 RDH11 RDH10
2 retinol binding GO:0019841 9.56 STRA6 RBP4 RBP1 LRAT
3 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.48 ALDH1A3 ALDH1A2
4 aldehyde dehydrogenase (NAD) activity GO:0004029 9.46 ALDH1A3 ALDH1A2
5 NADP-retinol dehydrogenase activity GO:0052650 9.46 RDH8 RDH12 RDH11 RDH10
6 retinoid binding GO:0005501 9.43 RBP4 RBP1
7 retinal dehydrogenase activity GO:0001758 9.4 ALDH1A3 ALDH1A2
8 retinol transmembrane transporter activity GO:0034632 9.37 STRA6 RBP4
9 retinal binding GO:0016918 9.26 STRA6 RBP4 RBP1 ALDH1A2
10 retinol dehydrogenase activity GO:0004745 9.1 SDR9C7 RDH8 RDH5 RDH12 RDH11 RDH10

Sources for Microphthalmia, Syndromic 9

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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