MICROPHTHALMIA, SYNDROMIC 9

General Information (adopted from Orphanet):

Synonyms, Signs: ANOPHTHALMIA/MICROPHTHALMIA AND PULMONARY HYPOPLASIA
SPEAR SYNDROME
MCOPCB8, INCLUDED
PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT
PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, INCLUDED
MATTHEW-WOOD SYNDROME
ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM
MCOPS9
Number of Symptoms 55
OrphanetNr:
OMIM Id: 601186
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000085) Horseshoe kidney 39 / 7739
2
(HPO:0000089) Renal hypoplasia 78 / 7739
3
(HPO:0000028) Cryptorchidism 347 / 7739
4
(HPO:0000126) Hydronephrosis 119 / 7739
5
(HPO:0000125) Pelvic kidney 10 / 7739
6
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
7
(HPO:0000528) Anophthalmia 42 / 7739
8
(HPO:0007633) Bilateral microphthalmos 13 / 7739
9
(HPO:0000431) Wide nasal bridge 290 / 7739
10
(HPO:0000347) Micrognathia 426 / 7739
11
(HPO:0000581) Blepharophimosis 197 / 7739
12
(HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
13
(HPO:0002187) Intellectual disability, profound 44 / 7739
14
(HPO:0000023) Inguinal hernia 181 / 7739
15
(HPO:0009110) Diaphragmatic eventration 8 / 7739
16
(HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
17
(HPO:0006270) Hypoplastic spleen 4 / 7739
18
(HPO:0001511) Intrauterine growth retardation 358 / 7739
19
(HPO:0004322) Short stature 1232 / 7739
20
(HPO:0001680) Coarctation of aorta 57 / 7739
21
(HPO:0005156) Hypoplastic left atrium 3 / 7739
22
(HPO:0001636) Tetralogy of Fallot 104 / 7739
23
(HPO:0001642) Pulmonic stenosis 89 / 7739
24
(HPO:0004935) Pulmonary artery atresia 12 / 7739
25
(HPO:0012020) Right aortic arch 9 / 7739
26
(HPO:0001631) Atria septal defect 274 / 7739
27
(HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
28
(HPO:0004415) Pulmonary artery stenosis 25 / 7739
29
(HPO:0001643) Patent ductus arteriosus 228 / 7739
30
(HPO:0001629) Ventricular septal defect 316 / 7739
31
(HPO:0001750) Single ventricle 3 / 7739
32
(HPO:0004960) Absent pulmonary artery 5 / 7739
33
(HPO:0001660) Truncus arteriosus 21 / 7739
34
(HPO:0005311) Agenesis of pulmonary vessels 2 / 7739
35
(HPO:0005113) Dilatation of the aortic arch 12 / 7739
36
(HPO:0002093) Respiratory insufficiency 410 / 7739
37
(HPO:0010547) Muscle flaccidity 466 / 7739
38
(HPO:0001324) Muscle weakness 859 / 7739
39
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
40
(HPO:0001252) Muscular hypotonia 990 / 7739
41
(OMIM) Coloboma, isolated (in some patients) 1 / 7739
42
(OMIM) Unilobular lung 1 / 7739
43
(OMIM) Large, low-set ears (uncommon) 1 / 7739
44
(OMIM) Hypoplastic renal arteries (rare) 1 / 7739
45
(OMIM) Broad, flared eyebrows 1 / 7739
46
(OMIM) Dilation of ventricle 2 / 7739
47
(OMIM) Pulmonary hypoplasia, usually bilateral 1 / 7739
48
(OMIM) Hypoplasia or absence of optic nerve 1 / 7739
49
(OMIM) Malrotation of kidney 1 / 7739
50
(OMIM) Only upward-growing eyebrows (uncommon) 1 / 7739
51
(OMIM) Dilation of atrium 1 / 7739
52
(OMIM) Alveolar capillary dysplasia 2 / 7739
53
(OMIM) Pulmonary agenesis, usually bilateral 1 / 7739
54
(OMIM) Small ventricle 1 / 7739
55
(OMIM) Hypoplastic, bicornuate uterus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ostor et al. (1978) described a premature stillborn infant with bilateral anophthalmia and pulmonary agenesis. Spear et al. (1987) reported a full-term stillborn male infant with a birth weight of 2,760 g in whom autopsy revealed right anophthalmia ...
Molecular genetics OMIM In 5 families with syndromic clinical anophthalmia, Pasutto et al. (2007) detected homozygosity for mutations in the STRA6 gene (610745). A homozygous deletion generating a premature stop codon (G50AfsX22; 610745.0002) led to absence of the immunoreactive protein in ...