MCID: MCR013
MIFTS: 57

Microphthalmia

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Microphthalmia

MalaCards integrated aliases for Microphthalmia:

Name: Microphthalmia 11 19 42 75 28 53 5 14 38 16 33
Microphthalmos 11 42 43 31 33
Isolated Anophthalmia-Microphthalmia Syndrome 19 58 5
Isolated Microphthalmia-Anophthalmia-Coloboma 19 58
Microphthalmia-Anophthalmia-Coloboma Spectrum 19
Isolated Anophthalmia - Microphthalmia 19
Isolated Pure Microphthalmia 19
Primitive Anophthalmia 19
Isolated Nanophthalmos 33
Simple Microphthalmos 11
Clinical Anophthalmia 19
Globe of Eye Small 33
Hypoplasia of Eye 33
Dysplasia of Eye 33
Rudimentary Eye 33
Small Eyeball 33
Mac Spectrum 19

Characteristics:


Inheritance:

Isolated Microphthalmia-Anophthalmia-Coloboma: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

Isolated Microphthalmia-Anophthalmia-Coloboma: 1-9/100000 (France, Sweden, United States, Europe) 58

Age Of Onset:

Isolated Microphthalmia-Anophthalmia-Coloboma: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:10629
ICD9CM 34 743.1
MeSH 43 D008850
NCIt 49 C98989
SNOMED-CT 68 156902006
ICD10 31 Q11.2
Orphanet 58 ORPHA2542
ICD11 33 1342802999
UMLS 71 C0026010

Summaries for Microphthalmia

MedlinePlus Genetics: 42 Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

MalaCards based summary: Microphthalmia, also known as microphthalmos, is related to microphthalmia, syndromic 1 and microphthalmia, syndromic 3. An important gene associated with Microphthalmia is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Neural crest differentiation and Mesodermal commitment pathway. Affiliated tissues include eye, retina and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

GARD: 19 A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.

Orphanet: 58 A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.

Disease Ontology: 11 An eye disease where one or both eyeballs are abnormally small.

Wikipedia: 75 Microphthalmia (Greek: μικρός, mikros, 'small', ὀφθαλμός, ophthalmos, 'eye', also referred as... more...

Related Diseases for Microphthalmia

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

(show top 50) (show all 732)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 1 33.7 VSX2 STRA6 HCCS BCOR
2 microphthalmia, syndromic 3 33.5 VSX2 STRA6 SOX2-OT SOX2 SIX6 PAX6
3 microphthalmia, syndromic 8 33.5 VSX2 STRA6 SOX2 PAX6 OTX2
4 microphthalmia, syndromic 9 33.4 VSX2 STRA6 RBP4 RARB ALDH1A3
5 microphthalmia, syndromic 2 33.4 VSX2 HCCS BCOR
6 microphthalmia, syndromic 6 33.3 PAX6 BMP4
7 syndromic microphthalmia 33.3 VSX2 STRA6 SOX2 PAX6 OTX2 BMP4
8 coloboma of macula 33.3 VSX2 VAX1 TFAP2A STRA6 SOX2 SIX6
9 colobomatous microphthalmia 33.3 VSX2 VAX1 TFAP2A STRA6 SOX2 SIX6
10 microphthalmia, syndromic 12 33.3 STRA6 RARB
11 microphthalmia, isolated 2 33.2 VSX2 STRA6 SOX2 PAX6 OTX2
12 isolated microphthalmia 3 33.1 VSX2 STRA6 SOX2 PAX6 OTX2
13 fryns microphthalmia syndrome 33.0 VSX2 SOX2-OT SOX2 PAX6 OTX2
14 isolated microphthalmia 33.0 VSX2 STRA6 SIX6 OTX2 HCCS ALDH1A3
15 microphthalmia, isolated 8 32.8 ALDH1A3-AS1 ALDH1A3
16 nanophthalmos 32.5 VSX2 SOX2 SIX6 PAX6 OTX2 ALDH1A3
17 persistent hyperplastic primary vitreous 32.3 VSX2 PAX6 OTX2
18 branchiooculofacial syndrome 32.2 VAX1 TFAP2A BMP4
19 peters-plus syndrome 32.2 VSX2 TFAP2A SOX2 PAX6 HCCS BMP4
20 coloboma, ocular, autosomal dominant 32.0 RBP4 RARB PAX6
21 optic disc anomalies with retinal and/or macular dystrophy 31.9 SIX6 C14orf39
22 cataract 31.8 VSX2 SOX2 SIX6 PAX6 OTX2 CRYBB3
23 sclerocornea 31.4 VSX2 TFAP2A SIX6 PAX6 OTX2 HCCS
24 diaphragmatic hernia, congenital 31.3 STRA6 RARB HCCS BMP4
25 aniridia 1 31.2 VSX2 STRA6 SOX2 PAX6 OTX2 HCCS
26 anterior segment dysgenesis 31.2 VSX2 STRA6 SIX6 PAX6 OTX2 HCCS
27 coloboma of iris 31.1 TFAP2A PAX6
28 amblyopia 31.1 TFAP2A PAX6 OTX2 CRYBB3
29 eye disease 31.0 VSX2 SOX2 SIX6 RBP4 PAX6 OTX2
30 orbital cyst 31.0 VSX2 HCCS
31 retinitis pigmentosa 30.9 VSX2 STRA6 SOX2-OT SOX2 SIX6 PAX6
32 fundus dystrophy 30.9 VSX2 STRA6 SOX2 SIX6 RBP4 PAX6
33 keratomalacia 30.8 RBP4 RARB
34 congenital aphakia 30.7 VSX2 PAX6 HCCS
35 hypopituitarism 30.7 SOX2 PAX6 OTX2
36 intraocular pressure quantitative trait locus 30.7 SIX6 PAX6 BMP4
37 myopia 30.6 SOX2 SIX6 RARB PAX6
38 septooptic dysplasia 30.5 VAX1 SOX2-OT SOX2 SIX6 PAX6 OTX2
39 axenfeld-rieger syndrome 30.5 VSX2 PAX6 BMP4
40 leukocoria 30.4 VSX2 PAX6
41 hirschsprung disease 1 30.4 TFAP2A SOX2 PAX6 MITF BMP4
42 diaphragmatic eventration 30.4 STRA6 RARB
43 tooth agenesis 30.4 VAX1 PAX6 BMP4 BCOR
44 cleft lip 30.3 VAX1 TFAP2A BMP4
45 ablepharon-macrostomia syndrome 30.2 SOX2 PAX6
46 linear skin defects with multiple congenital anomalies 1 11.8
47 microphthalmia, syndromic 5 11.7
48 bosma arhinia microphthalmia syndrome 11.6
49 microphthalmia, syndromic 13 11.6
50 microphthalmia/coloboma and skeletal dysplasia syndrome 11.6

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to Microphthalmia

Symptoms & Phenotypes for Microphthalmia

GenomeRNAi Phenotypes related to Microphthalmia according to GeneCards Suite gene sharing:

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.72 OTX2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.72 VSX2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 OTX2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.72 MITF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.72 MITF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.72 MITF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.72 HCCS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 OTX2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 BCOR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.72 OTX2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.72 MITF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.72 OTX2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.72 BCOR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 HCCS MITF VSX2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.72 MITF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.72 VSX2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.72 HCCS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.72 MITF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.72 VSX2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 BCOR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.72 VSX2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.72 BCOR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 OTX2

MGI Mouse Phenotypes related to Microphthalmia:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.4 BCOR BMP4 DYRK1A MITF OTX2 PAX6
2 growth/size/body region MP:0005378 10.4 ALDH1A3 BCOR BMP4 C14orf39 DYRK1A HCCS
3 endocrine/exocrine gland MP:0005379 10.36 ALDH1A3 BCOR BMP4 C14orf39 DYRK1A MITF
4 embryo MP:0005380 10.31 ALDH1A3 BCOR BMP4 DYRK1A HCCS MITF
5 cellular MP:0005384 10.31 ALDH1A3 BCOR BMP4 C14orf39 DYRK1A HCCS
6 normal MP:0002873 10.27 ALDH1A3 BMP4 HCCS MITF OTX2 PAX6
7 craniofacial MP:0005382 10.2 ALDH1A3 BCOR BMP4 MITF OTX2 PAX6
8 pigmentation MP:0001186 10.18 MITF OTX2 PAX6 RBP4 SOX2 STRA6
9 digestive/alimentary MP:0005381 10.18 ALDH1A3 BCOR BMP4 OTX2 PAX6 RARB
10 cardiovascular system MP:0005385 10.18 BCOR BMP4 DYRK1A HCCS OTX2 PAX6
11 muscle MP:0005369 10.15 BMP4 HCCS OTX2 PAX6 RARB RBP4
12 behavior/neurological MP:0005386 10.15 ALDH1A3 BCOR BMP4 C14orf39 DYRK1A MITF
13 hearing/vestibular/ear MP:0005377 10.14 BCOR BMP4 MITF OTX2 PAX6 RARB
14 reproductive system MP:0005389 10.03 BMP4 C14orf39 CRYBB3 DYRK1A MITF OTX2
15 skeleton MP:0005390 9.93 ALDH1A3 BCOR BMP4 C14orf39 MITF OTX2
16 respiratory system MP:0005388 9.87 ALDH1A3 BMP4 OTX2 PAX6 RARB SOX2
17 vision/eye MP:0005391 9.8 ALDH1A3 BCOR BMP4 MITF OTX2 PAX6
18 mortality/aging MP:0010768 9.47 ALDH1A3 BCOR BMP4 DYRK1A HCCS MITF

Drugs & Therapeutics for Microphthalmia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Study of ARQ 197 in Patients With Microphthalmia Transcription Factor Associated Tumors Completed NCT00557609 Phase 2 ARQ 197
2 Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes Unknown status NCT03748732
3 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843
4 A Long-term Postoperative Outcome After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
5 Biometric Characteristics Of The Eye With Microcornea/Microphthalmia And Congenital Cataract Before And After Cataract Extraction Recruiting NCT04759560
6 Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC) Recruiting NCT01778543

Search NIH Clinical Center for Microphthalmia

Cochrane evidence based reviews: microphthalmos

Genetic Tests for Microphthalmia

Genetic tests related to Microphthalmia:

# Genetic test Affiliating Genes
1 Microphthalmia 28

Anatomical Context for Microphthalmia

Organs/tissues related to Microphthalmia:

MalaCards : Eye, Retina, Brain, Skin, Bone Marrow, Bone, Heart

Publications for Microphthalmia

Articles related to Microphthalmia:

(show top 50) (show all 4465)
# Title Authors PMID Year
1
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 62 5
29178648 2017
2
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
3
Involvement of MITF-A, an alternative isoform of mi transcription factor, on the expression of tryptase gene in human mast cells. 53 62
20513998 2010
4
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 53 62
20033184 2010
5
Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. 53 62
20084168 2010
6
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 53 62
20003547 2009
7
Complex regulation of tartrate-resistant acid phosphatase (TRAP) expression by interleukin 4 (IL-4): IL-4 indirectly suppresses receptor activator of NF-kappaB ligand (RANKL)-mediated TRAP expression but modestly induces its expression directly. 53 62
19801646 2009
8
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 53 62
19526372 2009
9
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 53 62
19367324 2009
10
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. 53 62
19397404 2009
11
Epithelioid angiomyolipoma of the kidney. 53 62
19121090 2009
12
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. 53 62
19004499 2009
13
Induction of microphthalmia transcription factor (Mitf) by forskolin and stimulation of melanin release in UISO-Mel-6 cells. 53 62
18028952 2008
14
Diadenosine tetraphosphate hydrolase is part of the transcriptional regulation network in immunologically activated mast cells. 53 62
18644867 2008
15
Expression patterns of MITF during human cutaneous embryogenesis: evidence for bulge epithelial expression and persistence of dermal melanoblasts. 53 62
18312434 2008
16
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. 53 62
18648522 2008
17
Schwannoma of the kidney. 53 62
18391921 2008
18
PNL2 melanocytic marker in immunohistochemical evaluation of primary mucosal melanoma of the head and neck. 53 62
18228523 2008
19
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. 53 62
18507827 2008
20
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 53 62
18285410 2008
21
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. 53 62
18385377 2008
22
Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas. 53 62
19383316 2008
23
Sclerosing PEComa: clinicopathologic analysis of a distinctive variant with a predilection for the retroperitoneum. 53 62
18223480 2008
24
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 53 62
18424413 2008
25
Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigens. 53 62
18390729 2008
26
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. 53 62
18385072 2008
27
Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases. 53 62
18300804 2008
28
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 53 62
18385794 2008
29
Cutaneous melanocytoneuroma: the first case of a distinctive intraneural tumor with dual nerve sheath and melanocytic differentiation. 53 62
17997740 2007
30
[Tumors showing perivascular epithelioid cell differentiation: a clinicopathologic study of 39 cases]. 53 62
18261305 2007
31
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. 53 62
17522144 2007
32
Anophthalmia and microphthalmia. 53 62
18039390 2007
33
Functional analysis of human mutations in homeodomain transcription factor PITX3. 53 62
17888164 2007
34
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 53 62
17661825 2007
35
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? 53 62
17893649 2007
36
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 53 62
17406642 2007
37
Neurothekeoma: an analysis of 178 tumors with detailed immunohistochemical data and long-term patient follow-up information. 53 62
17592278 2007
38
Microphthalmia transcription factor isoforms in mast cells and the heart. 53 62
17438132 2007
39
Protein inhibitor of activated STAT 3 modulates osteoclastogenesis by down-regulation of NFATc1 and osteoclast-associated receptor. 53 62
17442941 2007
40
Immunohistochemical evaluation of necrotic malignant melanomas. 53 62
17439838 2007
41
Perivascular epithelioid cell neoplasms (PEComas): four malignant cases expanding the histopathological spectrum and a description of a unique finding. 53 62
17377813 2007
42
Mcl-1, Bcl-XL and Stat3 expression are associated with progression of melanoma whereas Bcl-2, AP-2 and MITF levels decrease during progression of melanoma. 53 62
17384650 2007
43
Mast cell tryptase and microphthalmia transcription factor effectively discriminate cutaneous mast cell disease from myeloid leukemia cutis. 53 62
17381798 2007
44
Tacrolimus and cyclosporine A inhibit human osteoclast formation via targeting the calcineurin-dependent NFAT pathway and an activation pathway for c-Jun or MITF in rheumatoid arthritis. 53 62
16586042 2007
45
HMB-45 and Melan-A are useful in the differential diagnosis between granular cell tumor and malignant melanoma. 53 62
17284958 2007
46
Retina regeneration in the chick embryo is not induced by spontaneous Mitf downregulation but requires FGF/FGFR/MEK/Erk dependent upregulation of Pax6. 53 62
17277739 2007
47
Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter. 53 62
17277743 2007
48
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 53 62
17033686 2007
49
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 53 62
17167404 2006
50
Melanoma genomics reveals signatures of sensitivity to bio- and targeted therapies. 53 62
17433276 2006

Variations for Microphthalmia

ClinVar genetic disease variations for Microphthalmia:

5 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH1A3 NM_000693.4(ALDH1A3):c.287G>A (p.Arg96His) SNV Pathogenic
978214 rs1470193684 GRCh37: 15:101427859-101427859
GRCh38: 15:100887654-100887654
2 ALDH1A3-AS1, ALDH1A3 NM_000693.4(ALDH1A3):c.709G>A (p.Gly237Arg) SNV Pathogenic
978215 rs1164081840 GRCh37: 15:101436180-101436180
GRCh38: 15:100895975-100895975
3 TFAP2A NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) DEL Pathogenic
523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
4 VSX2 NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) SNV Pathogenic
14862 rs121912545 GRCh37: 14:74726404-74726404
GRCh38: 14:74259701-74259701
5 ALDH1A3-AS1, ALDH1A3 NM_000693.4(ALDH1A3):c.1444del (p.Met482fs) DEL Pathogenic
1701914 GRCh37: 15:101448662-101448662
GRCh38: 15:100908457-100908457
6 PAX6 NM_001368894.2(PAX6):c.131G>C (p.Arg44Pro) SNV Pathogenic
430901 rs1554985722 GRCh37: 11:31824262-31824262
GRCh38: 11:31802714-31802714
7 SIX6, C14orf39 NM_007374.3(SIX6):c.-227_572+235del DEL Pathogenic
637953 GRCh37: 14:60975886-60976919
GRCh38: 14:60509168-60510201
8 RARB NM_000965.5(RARB):c.654G>C (p.Trp218Cys) SNV Pathogenic
1710327 GRCh37: 3:25622081-25622081
GRCh38: 3:25580590-25580590
9 SOX2-OT, SOX2 NM_003106.4(SOX2):c.103_110dup (p.Ser37fs) DUP Pathogenic
1710348 GRCh37: 3:181430247-181430248
GRCh38: 3:181712459-181712460
10 CRYBB3 NM_004076.5(CRYBB3):c.467G>A (p.Gly156Glu) SNV Pathogenic
1704644 GRCh37: 22:25601326-25601326
GRCh38: 22:25205359-25205359
11 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) SNV Pathogenic
162153 rs724159949 GRCh37: 21:38858865-38858865
GRCh38: 21:37486563-37486563
12 RBP4 NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn) SNV Pathogenic
430902 rs1329285216 GRCh37: 10:95353754-95353754
GRCh38: 10:93593997-93593997
13 VSX2 NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) SNV Likely Pathogenic
221963 rs755799430 GRCh37: 14:74726392-74726392
GRCh38: 14:74259689-74259689
14 ALDH1A3-AS1, ALDH1A3 NM_000693.4(ALDH1A3):c.1436G>A (p.Gly479Asp) SNV Likely Pathogenic
585293 rs1567174297 GRCh37: 15:101448657-101448657
GRCh38: 15:100908452-100908452
15 RARB NM_000965.5(RARB):c.307G>T (p.Gly103Cys) SNV Likely Pathogenic
1710325 GRCh37: 3:25542673-25542673
GRCh38: 3:25501182-25501182
16 RARB NM_000965.5(RARB):c.624_635del (p.Asp208_Arg212delinsGlu) DEL Likely Pathogenic
1710326 GRCh37: 3:25622051-25622062
GRCh38: 3:25580560-25580571
17 RARB NM_000965.5(RARB):c.1205T>C (p.Leu402Pro) SNV Likely Pathogenic
1710329 GRCh37: 3:25637965-25637965
GRCh38: 3:25596474-25596474
18 VAX1 NM_001112704.2(VAX1):c.212del (p.Pro71fs) DEL Likely Pathogenic
1710333 GRCh37: 10:118897356-118897356
GRCh38: 10:117137845-117137845
19 GJA8 NM_005267.5(GJA8):c.175C>T (p.Pro59Ser) SNV Likely Pathogenic
1710337 GRCh37: 1:147380257-147380257
GRCh38: 1:147908130-147908130
20 STRA6 NM_022369.4(STRA6):c.1699C>T (p.Arg567Ter) SNV Likely Pathogenic
1710342 GRCh37: 15:74473264-74473264
GRCh38: 15:74180923-74180923
21 MIP NM_012064.4(MIP):c.513del (p.His172fs) DEL Uncertain Significance
834061 rs1868688386 GRCh37: 12:56847387-56847387
GRCh38: 12:56453603-56453603
22 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1153C>T (p.Arg385Cys) SNV Uncertain Significance
1330155 GRCh37: 1:220366699-220366699
GRCh38: 1:220193357-220193357
23 VSX2 NM_182894.3(VSX2):c.874G>C (p.Ala292Pro) SNV Uncertain Significance
314201 rs766522793 GRCh37: 14:74727410-74727410
GRCh38: 14:74260707-74260707
24 VSX2 NM_182894.3(VSX2):c.1025C>T (p.Ala342Val) SNV Uncertain Significance
971374 rs1352241492 GRCh37: 14:74727561-74727561
GRCh38: 14:74260858-74260858
25 VSX2 NM_182894.3(VSX2):c.*8C>T SNV Uncertain Significance
990176 rs373971416 GRCh37: 14:74727630-74727630
GRCh38: 14:74260927-74260927
26 CILK1 NM_014920.5(CILK1):c.304A>C (p.Ile102Leu) SNV Uncertain Significance
809949 rs748539319 GRCh37: 6:52895917-52895917
GRCh38: 6:53031119-53031119
27 VSX2 NM_182894.3(VSX2):c.421A>T (p.Asn141Tyr) SNV Uncertain Significance
834181 rs761409644 GRCh37: 14:74707935-74707935
GRCh38: 14:74241232-74241232
28 CILK1 NM_014920.5(CILK1):c.1344-4T>A SNV Uncertain Significance
809946 rs370955882 GRCh37: 6:52876719-52876719
GRCh38: 6:53011921-53011921
29 VSX2 NM_182894.3(VSX2):c.1065G>A (p.Pro355=) SNV Uncertain Significance
743785 rs370443332 GRCh37: 14:74727601-74727601
GRCh38: 14:74260898-74260898
30 VSX2 NM_182894.3(VSX2):c.1046C>T (p.Ala349Val) SNV Uncertain Significance
705899 rs137872696 GRCh37: 14:74727582-74727582
GRCh38: 14:74260879-74260879
31 VSX2 NM_182894.3(VSX2):c.539T>C (p.Met180Thr) SNV Uncertain Significance
967386 rs147167593 GRCh37: 14:74711951-74711951
GRCh38: 14:74245248-74245248
32 VSX2 NM_182894.3(VSX2):c.638G>A (p.Ser213Asn) SNV Uncertain Significance
660623 rs1318485889 GRCh37: 14:74726363-74726363
GRCh38: 14:74259660-74259660
33 VSX2 NM_182894.3(VSX2):c.862C>T (p.Arg288Trp) SNV Uncertain Significance
989732 rs76055170 GRCh37: 14:74727398-74727398
GRCh38: 14:74260695-74260695
34 VSX2 NM_182894.3(VSX2):c.859G>C (p.Glu287Gln) SNV Uncertain Significance
989731 rs200256286 GRCh37: 14:74727395-74727395
GRCh38: 14:74260692-74260692
35 VSX2 NM_182894.3(VSX2):c.470C>T (p.Ser157Phe) SNV Uncertain Significance
989730 rs551394732 GRCh37: 14:74711882-74711882
GRCh38: 14:74245179-74245179
36 VSX2 NM_182894.3(VSX2):c.173C>A (p.Pro58His) SNV Uncertain Significance
989729 rs2079136024 GRCh37: 14:74706437-74706437
GRCh38: 14:74239734-74239734
37 VSX2 NM_182894.3(VSX2):c.858C>T (p.Asp286=) SNV Uncertain Significance
759808 rs772616650 GRCh37: 14:74727394-74727394
GRCh38: 14:74260691-74260691
38 VSX2 NM_182894.3(VSX2):c.714G>A (p.Lys238=) SNV Uncertain Significance
281326 rs377107974 GRCh37: 14:74726439-74726439
GRCh38: 14:74259736-74259736
39 VSX2 NM_182894.3(VSX2):c.651G>A (p.Ala217=) SNV Uncertain Significance
743783 rs150792267 GRCh37: 14:74726376-74726376
GRCh38: 14:74259673-74259673
40 VSX2 NM_182894.3(VSX2):c.336G>A (p.Ser112=) SNV Uncertain Significance
193510 rs752313464 GRCh37: 14:74706600-74706600
GRCh38: 14:74239897-74239897
41 VSX2 NM_182894.3(VSX2):c.249G>A (p.Gly83=) SNV Uncertain Significance
706510 rs751526974 GRCh37: 14:74706513-74706513
GRCh38: 14:74239810-74239810
42 VSX2 NM_182894.3(VSX2):c.171C>G (p.Ala57=) SNV Likely Benign
706589 rs201395979 GRCh37: 14:74706435-74706435
GRCh38: 14:74239732-74239732
43 VSX2 NM_182894.3(VSX2):c.564G>A (p.Pro188=) SNV Likely Benign
738345 rs201354547 GRCh37: 14:74711976-74711976
GRCh38: 14:74245273-74245273
44 VSX2 NM_182894.3(VSX2):c.1002C>T (p.Thr334=) SNV Likely Benign
753037 rs778183266 GRCh37: 14:74727538-74727538
GRCh38: 14:74260835-74260835
45 VSX2 NM_182894.3(VSX2):c.939T>A (p.Ala313=) SNV Likely Benign
314203 rs372651860 GRCh37: 14:74727475-74727475
GRCh38: 14:74260772-74260772
46 VSX2 NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) SNV Likely Benign
468358 rs61747367 GRCh37: 14:74706426-74706426
GRCh38: 14:74239723-74239723
47 VSX2 NM_182894.3(VSX2):c.522C>T (p.Asp174=) SNV Likely Benign
289848 rs78509400 GRCh37: 14:74711934-74711934
GRCh38: 14:74245231-74245231
48 VSX2 NM_182894.3(VSX2):c.1013AGG[5] (p.Glu341dup) MICROSAT Benign
536260 rs144220788 GRCh37: 14:74727547-74727548
GRCh38: 14:74260844-74260845
49 VSX2 NM_182894.3(VSX2):c.750G>A (p.Pro250=) SNV Benign
314196 rs192712847 GRCh37: 14:74726475-74726475
GRCh38: 14:74259772-74259772
50 VSX2 NM_182894.3(VSX2):c.579G>A (p.Gln193=) SNV Benign
314195 rs182972044 GRCh37: 14:74711991-74711991
GRCh38: 14:74245288-74245288

Copy number variations for Microphthalmia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 264074 X 6000000 9500000 Copy number Microphthalmia

Expression for Microphthalmia

Search GEO for disease gene expression data for Microphthalmia.

Pathways for Microphthalmia



Pathways directly related to Microphthalmia:

# Pathway Source
1 Defective ABCB6 causes MCOPCB7 Reactome 66

GO Terms for Microphthalmia

Cellular components related to Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.58 VSX2 VAX1 TFAP2A SOX2 SIX6 RARB

Biological processes related to Microphthalmia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.34 TFAP2A SOX2 PAX6 OTX2 MITF DYRK1A
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.28 BCOR BMP4 MITF PAX6 RARB SOX2
3 visual perception GO:0007601 10.13 CRYBB3 PAX6 RBP4 SIX6 VSX2
4 regulation of DNA-templated transcription GO:0006355 10.11 VSX2 VAX1 TFAP2A SOX2 SIX6 RARB
5 roof of mouth development GO:0060021 10.04 VAX1 TFAP2A BCOR
6 negative regulation of epithelial cell proliferation GO:0050680 10.02 SOX2 PAX6 BMP4
7 anatomical structure development GO:0048856 9.97 TFAP2A PAX6 BMP4
8 blood vessel development GO:0001568 9.91 BMP4 PAX6 STRA6
9 pituitary gland development GO:0021983 9.88 SOX2 PAX6 BMP4
10 embryonic eye morphogenesis GO:0048048 9.86 RARB ALDH1A3
11 negative regulation of neuroblast proliferation GO:0007406 9.83 VAX1 PAX6
12 retinol transport GO:0034633 9.76 STRA6 RBP4
13 cell fate commitment GO:0045165 9.73 SOX2 PAX6 MITF BMP4
14 positive regulation of epithelial cell differentiation GO:0030858 9.71 PAX6 BMP4
15 telencephalon regionalization GO:0021978 9.65 PAX6 BMP4
16 forebrain development GO:0030900 9.63 SOX2 PAX6 OTX2 BMP4
17 eye development GO:0001654 9.56 SOX2 SIX6 RBP4 PAX6
18 camera-type eye development GO:0043010 9.23 VAX1 STRA6 PAX6 MITF BMP4

Molecular functions related to Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.31 MITF OTX2 PAX6 RARB SIX6 SOX2
2 DNA binding GO:0003677 10.25 VSX2 VAX1 TFAP2A SOX2 SIX6 RARB
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.21 MITF OTX2 PAX6 RARB SIX6 SOX2
4 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 10.02 VSX2 VAX1 TFAP2A PAX6 MITF
5 sequence-specific double-stranded DNA binding GO:1990837 9.8 VSX2 VAX1 TFAP2A SIX6 RARB PAX6
6 retinal binding GO:0016918 9.67 STRA6 RBP4
7 retinol transmembrane transporter activity GO:0034632 9.46 STRA6 RBP4
8 DNA-binding transcription factor activity GO:0003700 9.28 VAX1 TFAP2A SOX2 RARB PAX6 OTX2

Sources for Microphthalmia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....