eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| matthew-wood syndrome | ||||
| Disease ID | 1410 |
|---|---|
| Disease | matthew-wood syndrome |
| Definition | A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. 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 and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24. |
| Synonym | anophthalmia and pulmonary hypoplasia anophthalmia with pulmonary hypoplasia anophthalmia with pulmonary hypoplasia syndrome anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm anophthalmia-microphthalmia and pulmonary hypoplasia anophthalmia/microphthalmia and pulmonary hypoplasia matthew wood syndrome matthew wood syndrome (disorder) mcops9 microphthalmia, syndromic 9 pulmonary agenesis, microphthalmia, and diaphragmatic defect spear syndrome syndromic microphthalmia type 9 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1832661 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 220 | ALDH1A3 | 3.152 | DISEASES 54880 | BCOR | 2.895 | DISEASES 2263 | FGFR2 | 2.686 | DISEASES 3052 | HCCS | 2.117 | DISEASES 114548 | NLRP3 | 2.592 | DISEASES 5015 | OTX2 | 2.914 | DISEASES 5080 | PAX6 | 1.881 | DISEASES 5950 | RBP4 | 3.597 | DISEASES 4990 | SIX6 | 3.161 | DISEASES 64093 | SMOC1 | 4.197 | DISEASES 6657 | SOX2 | 1.649 | DISEASES 64220 | STRA6 | 6.943 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1410 |
|---|---|
| Disease | matthew-wood syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0000028 | Cryptorchidism HP:0002089 | Hypoplastic lungs HP:0000581 | Blepharophimosis HP:0002627 | Right aortic arch with mirror image branching HP:0000347 | Hypoplasia of mandible HP:0004935 | Pulmonary atresia HP:0005944 | Bilateral pulmonary agenesis HP:0000089 | Small kidneys HP:0005156 | Small left heart atrium HP:0001629 | Ventricular septal defects HP:0004322 | Stature below 3rd percentile HP:0007633 | Abnormally small eyeball on both sides HP:0000369 | Low-set ears HP:0001680 | Coarctation of aorta HP:0000126 | Hydronephrosis HP:0000013 | Underdeveloped uterus HP:0001636 | Tetrology of fallot HP:0000776 | Diaphragmatic hernia HP:0000125 | Pelvic kidney HP:0001642 | Pulmonic stenosis HP:0001252 | Hypotonia HP:0006270 | Hypoplastic spleen HP:0000528 | Absence of eyeballs HP:0001643 | Persistent ductus arteriosus HP:0001750 | Single ventricle HP:0000813 | Bicornuate uterus HP:0001660 | Common arterial trunk HP:0000431 | Broad nasal root HP:0005311 | Agenesis of pulmonary vessels HP:0004712 | Abnormal rotation of the kidneys HP:0000023 | Inguinal hernia HP:0001511 | Prenatal onset growth retardation HP:0000085 | Horseshoe kidney HP:0002187 | Intellectual disability, profound HP:0009110 | Diaphragmatic eventration HP:0001631 | Atria septal defect HP:0002093 | progressive respiratory failure |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1410 |
|---|---|
| Disease | matthew-wood syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203958 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74190889 | G | A |
| rs118203959 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74180121 | G | A |
| rs118203960 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74180153 | G | A |
| rs118203961 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74196145 | G | A |
| rs118203962 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74189244 | T | G |
| rs118203962 | 17273977 | 64220 | STRA6 | umls:C1832661 | UNIPROT | Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. | 0.481357209 | 2007 | STRA6 | 15 | 74189244 | T | G |
| rs151341424 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | NA | NA | NA | NA | NA |
| rs151341424 | 21901792 | 64220 | STRA6 | umls:C1832661 | BeFree | The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). | 0.481357209 | 2011 | NA | NA | NA | NA | NA |
| rs267607096 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74202199 | C | T |
| rs397514638 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74181301 | C | T,G |
| rs397514639 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74180120 | C | T |
| rs397518484 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74181459 | C | T |
| rs606231125 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74197785 | G | - |
| rs606231126 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74202216 | AGT | GG |
| rs606231127 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74195371 | - | C |
| rs794727153 | NA | 64220 | STRA6 | umls:C1832661 | CLINVAR | NA | 0.481357209 | NA | STRA6 | 15 | 74182376 | T | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0000085 | Horseshoe kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000013 | Hypoplasia of the uterus | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0005156 | Hypoplastic left atrium | MP:0003923 | abnormal heart left atrium morphology | any structural anomaly of the left upper chamber of the heart |
| HP:0005311 | Agenesis of pulmonary vessels | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001636 | Tetralogy of Fallot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0001660 | Truncus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001680 | Coarctation of aorta | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0004935 | Pulmonary artery atresia | MP:0012537 | abnormal hyaloid artery morphology | any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitr |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000089 | Renal hypoplasia | MP:0012085 | midface hypoplasia | underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face |
| HP:0000813 | Bicornuate uterus | MP:0003558 | absent uterus | absence of the female muscular organ of gestation |
| HP:0002627 | Right aortic arch with mirror image branching | MP:0012493 | absent pharyngeal arch arteries | absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0005944 | Bilateral lung agenesis | MP:0010995 | abnormal lung alveolus development | anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000125 | Pelvic kidney | MP:0002135 | abnormal kidney morphology | any structural anomaly of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine |
| HP:0002089 | Pulmonary hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
Mapped by homologous gene(Total Items:37) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000528 | Anophthalmia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000085 | Horseshoe kidney | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002187 | Intellectual disability, profound | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0005156 | Hypoplastic left atrium | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001680 | Coarctation of aorta | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000581 | Blepharophimosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007633 | Bilateral microphthalmos | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000013 | Hypoplasia of the uterus | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0006270 | Hypoplastic spleen | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0004712 | Renal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000813 | Bicornuate uterus | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0002627 | Right aortic arch with mirror image branching | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001643 | Patent ductus arteriosus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0001642 | Pulmonic stenosis | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000125 | Pelvic kidney | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001660 | Truncus arteriosus | MP:0013573 | abnormal parathyroid gland development | aberrant formation or incomplete differentiation of either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH), a hormone |
| HP:0004935 | Pulmonary artery atresia | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001750 | Single ventricle | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0005944 | Bilateral lung agenesis | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0005311 | Agenesis of pulmonary vessels | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0009110 | Diaphragmatic eventration | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000089 | Renal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002089 | Pulmonary hypoplasia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1410 |
|---|---|
| Disease | matthew-wood syndrome |
| Case | (Waiting for update.) |