Syndromic Microphthalmia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Syndromic Microphthalmia

MalaCards integrated aliases for Syndromic Microphthalmia:

Name: Syndromic Microphthalmia ¹² ²⁹ ¹⁵

Microphthalmia, Syndromic ³⁶ ³⁹

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Respiratory diseases Endocrine diseases Oral diseases Reproductive diseases Ear diseases Cardiovascular diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080636

KEGG ³⁶ H02170

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Summaries for Syndromic Microphthalmia

KEGG : ³⁶ Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal system and the craniofacial region with anomalies of the face, ear and neck.

MalaCards based summary : Syndromic Microphthalmia, also known as microphthalmia, syndromic, is related to microphthalmia, syndromic 3 and microphthalmia, syndromic 1. An important gene associated with Syndromic Microphthalmia is ANOP1 (Anophthalmos 1 (With Mental Retardation, Without Limb Anomalies Or Dental Or Urogenital Abnormalities)), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye, brain and pituitary, and related phenotypes are craniofacial and embryo

Disease Ontology : ¹² A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body.

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Related Diseases for Syndromic Microphthalmia

Diseases in the Syndromic Microphthalmia family:

Microphthalmia, Syndromic 3	Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13	Microphthalmia, Syndromic 4
Microphthalmia, Syndromic 1	Microphthalmia, Syndromic 9
Microphthalmia, Syndromic 8	Microphthalmia, Syndromic 6
Microphthalmia, Syndromic 5	Microphthalmia, Syndromic 10
Microphthalmia, Syndromic 11	Microphthalmia, Syndromic 12

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

(show top 50) (show all 136)

#	Related Disease	Score	Top Affiliating Genes
1	microphthalmia, syndromic 3	33.8	SOX2 SIX6
2	microphthalmia, syndromic 1	33.2	NAA10 BCOR
3	fryns microphthalmia syndrome	32.2	VSX2 SOX2 PAX6 OTX2
4	colobomatous microphthalmia	31.6	VSX2 STRA6 PORCN PAX6 OTX2 BMP4
5	microphthalmia, isolated 2	30.0	VSX2 SOX2 PAX6 OTX2
6	isolated microphthalmia	29.7	VSX2 STRA6 SIX6 OTX2
7	sclerocornea	29.6	SIX6 PAX6 CRYAA
8	cataract	27.3	VSX2 SOX2 SIX6 PAX6 OTX2 EYA1
9	coloboma of macula	26.7	VSX2 STRA6 SOX2 SIX6 PORCN PAX6
10	microphthalmia	26.4	VSX2 STRA6 SOX2 SNX3 SIX6 PORCN
11	bosma arhinia microphthalmia syndrome	12.6
12	linear skin defects with multiple congenital anomalies 1	12.3
13	syndromic microphthalmia-anophthalmia-coloboma	12.3
14	microphthalmia, syndromic 5	12.2
15	microphthalmia, syndromic 2	11.9
16	microphthalmia, syndromic 4	11.9
17	microphthalmia, syndromic 8	11.9
18	microphthalmia/coloboma and skeletal dysplasia syndrome	11.9
19	microphthalmia, syndromic 6	11.9
20	microphthalmia, syndromic 10	11.8
21	microphthalmia, isolated, with coloboma 9	11.8
22	microphthalmia, syndromic 13	11.7
23	microphthalmia, syndromic 9	11.7
24	microphthalmia, syndromic 11	11.7
25	microphthalmia, syndromic 12	11.7
26	microphthalmia with limb anomalies	11.4
27	microphthalmia, isolated 5	11.2
28	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	11.1
29	microphthalmia, isolated 6	11.1
30	intellectual disability - athetosis - microphthalmia	11.1
31	microphthalmia microtia fetal akinesia	11.1
32	oculo-cerebral dysplasia	11.1
33	anophthalmos with limb anomalies	11.0
34	orofacial cleft 11	10.4	LOC109433677 BMP4
35	sox2-related eye disorders	10.4	SOX2 SIX6
36	spastic ataxia 8	10.3	PAX6 OTX2
37	complex chromosomal rearrangement	10.3	SIX6 OTX2
38	congenital aphakia	10.3	VSX2 PAX6
39	macular degeneration, age-related, 7	10.3	SOX2 PAX6 OTX2
40	ablepharon-macrostomia syndrome	10.2	SOX2 PAX6
41	germ cell and embryonal cancer	10.2	SOX2 PAX6 BMP4
42	septooptic dysplasia	10.2	SOX2 PAX6 OTX2
43	persistent hyperplastic primary vitreous	10.2	VSX2 PAX6 OTX2
44	hypopituitarism	10.2	SOX2 PAX6 OTX2
45	ear malformation	10.2	SOX2 EYA1
46	cardiomyopathy, dilated, 1j	10.1	EYA3 EYA1
47	muscular dystrophy	10.1
48	charge syndrome	10.1	SOX2 PAX6 OTX2 BMP4
49	microphthalmia, isolated 3	10.1	VSX2 SOX2 PAX6 OTX2
50	facioscapulohumeral muscular dystrophy 1	10.1

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

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Symptoms & Phenotypes for Syndromic Microphthalmia

MGI Mouse Phenotypes related to Syndromic Microphthalmia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	10.03	BMP4 EYA1 OTX2 PAX6 PORCN SNX3
2	embryo	MP:0005380	10.02	BCOR BMP4 EYA1 OTX2 PAX6 PORCN
3	digestive/alimentary	MP:0005381	9.95	BMP4 EYA1 OTX2 PAX6 PORCN SNX3
4	endocrine/exocrine gland	MP:0005379	9.92	BMP4 EYA1 OTX2 PAX6 PORCN SIX6
5	nervous system	MP:0003631	9.9	BCOR BMP4 EYA1 OTX2 PAX6 PORCN
6	hearing/vestibular/ear	MP:0005377	9.73	BMP4 EYA1 EYA3 OTX2 PAX6 SOX2
7	pigmentation	MP:0001186	9.43	OTX2 PAX6 PORCN SOX2 STRA6 VSX2
8	vision/eye	MP:0005391	9.36	BMP4 EYA1 EYA3 OTX2 PAX6 PORCN

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Drugs & Therapeutics for Syndromic Microphthalmia

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders	Completed	NCT00011843

Search NIH Clinical Center for Syndromic Microphthalmia

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Genetic Tests for Syndromic Microphthalmia

Genetic tests related to Syndromic Microphthalmia:

#	Genetic test	Affiliating Genes
1	Syndromic Microphthalmia ²⁹

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Anatomical Context for Syndromic Microphthalmia

MalaCards organs/tissues related to Syndromic Microphthalmia:

⁴⁰

Eye, Brain, Pituitary

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Publications for Syndromic Microphthalmia

Articles related to Syndromic Microphthalmia:

(show all 20)

#	Title	Authors	PMID	Year
1	CUGC for syndromic microphthalmia including next-generation sequencing-based approaches. ⁶¹	Eintracht J...Moosajee M	31896778	2020
2	The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia. ⁶¹	Apam-Garduno D...Villanueva-Mendoza C	31809626	2019
3	Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. ⁶¹	Jakubiuk-Tomaszuk A...Ploski R	31343737	2019
4	Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. ⁶¹	Blackburn PR...Babovic-Vuksanovic D	31053785	2019
5	NAA10 polyadenylation signal variants cause syndromic microphthalmia. ⁶¹	Johnston JJ...Biesecker LG	30842225	2019
6	Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. ⁶¹	Catania A...Ghezzi D	30773800	2019
7	Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. ⁶¹	Kraus C...Zweier C	30450806	2018
8	Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. ⁶¹	Du R...Uyguner ZO	30046887	2018
9	Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. ⁶¹	Somashekar PH...Girisha KM	28388256	2017
10	Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. ⁶¹	Richardson R...Moosajee M	28098148	2017
11	Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient. ⁶¹	Ramirez-Botero AF...Pachajoa H	27206652	2016
12	Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. ⁶¹	Brady PD...Vermeesch JR	25026905	2015
13	Whole-genome copy number variation analysis in anophthalmia and microphthalmia. ⁶¹	Schilter KF...Semina EV	23701296	2013
14	Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. ⁶¹	Suzumori N...Sugiura-Ogasawara M	23815237	2013
15	A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. ⁶¹	Ng WY...Jamieson RV	22283518	2013
16	Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. ⁶¹	Bardakjian TM...Biesecker LG	20003547	2009
17	Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. ⁶¹	Faiyaz-Ul-Haque M...Teebi AS	17661825	2007
18	CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. ⁶¹	Bar-Yosef U...Birk OS	15257456	2004
19	Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? ⁶¹	Ng D...Biesecker LG	12116202	2002
20	Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. ⁶¹	Ferda Percin E...McInnes RR	10932181	2000

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Genes for Syndromic Microphthalmia

Genes related to Syndromic Microphthalmia (1 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ANOP1	Anophthalmos 1 (With Mental Retardation, Without Limb Anomalies Or Dental Or Urogenital Abnormalities)	Genetic Locus	50	MalaCards inferred ⁴⁰
2	OTX2	Orthodenticle Homeobox 2	Protein Coding	33.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
3	STRA6	Signaling Receptor And Transporter Of Retinol STRA6	Protein Coding	22.75	DISEASES inferred ¹⁵ GeneCards inferred via : Summaries Variants (show sections)
4	BMP4	Bone Morphogenetic Protein 4	Protein Coding	13.89	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	VSX2	Visual System Homeobox 2	Protein Coding	13.33	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	SOX2	SRY-Box Transcription Factor 2	Protein Coding	13.27	DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)
7	PAX6	Paired Box 6	Protein Coding	12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	NAA10	N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit	Protein Coding	11.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	PORCN	Porcupine O-Acyltransferase	Protein Coding	10.65	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	SIX6	SIX Homeobox 6	Protein Coding	9.92	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	EYA3	EYA Transcriptional Coactivator And Phosphatase 3	Protein Coding	9.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	9.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	EYA2	EYA Transcriptional Coactivator And Phosphatase 2	Protein Coding	9.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	SNX3	Sorting Nexin 3	Protein Coding	7.19	GeneCards inferred via : Disorders (show sections)
15	LOC109433677	BMP4 Promoter Region	Biological Region	7.15	GeneCards inferred via : Variants (show sections)
16	BCOR	BCL6 Corepressor	Protein Coding	6.98	DISEASES inferred ¹⁵
17	CRYAA	Crystallin Alpha A	Protein Coding	6.72	DISEASES inferred ¹⁵ ¹⁵
18	ZBTB8B	Zinc Finger And BTB Domain Containing 8B	Protein Coding	6.67	DISEASES inferred ¹⁵

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Variations for Syndromic Microphthalmia

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Expression for Syndromic Microphthalmia

Search GEO for disease gene expression data for Syndromic Microphthalmia.

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Pathways for Syndromic Microphthalmia

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

#	Super pathways	Score	Top Affiliating Genes
1	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.15	SOX2 PAX6 OTX2 BMP4
2	Signaling pathways regulating pluripotency of stem cells ³⁶	11.74	SOX2 PAX6 BMP4
3	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁴	11.38	SOX2 PAX6 OTX2 BMP4
4	Neural Stem Cells and Lineage-specific Markers ⁶⁴	11.33	SOX2 PAX6 BMP4
5	Ectoderm Differentiation ¹	11.18	SOX2 SIX6 PAX6 BMP4 BCOR
6	Cardiac Progenitor Differentiation ¹	11.06	SOX2 PAX6 BMP4
7	Human Early Embryo Development ⁶³ Show member pathways POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation ⁶⁵	10.32	SOX2 BMP4

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GO Terms for Syndromic Microphthalmia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromatin	GO:0000790	9.1	ZBTB8B VSX2 SOX2 SIX6 PAX6 OTX2

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

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	10.09	VSX2 SOX2 PAX6 OTX2 EYA1 BMP4
2	cell differentiation	GO:0030154	10.05	SOX2 PAX6 EYA3 EYA2 EYA1 BMP4
3	positive regulation of transcription, DNA-templated	GO:0045893	10	SOX2 PAX6 OTX2 EYA1 BMP4
4	chromatin organization	GO:0006325	9.88	SOX2 EYA3 EYA2 EYA1 BCOR
5	animal organ morphogenesis	GO:0009887	9.8	SIX6 PAX6 EYA1
6	anatomical structure morphogenesis	GO:0009653	9.79	SOX2 EYA3 EYA1
7	peptidyl-tyrosine dephosphorylation	GO:0035335	9.77	EYA3 EYA2 EYA1
8	visual perception	GO:0007601	9.77	VSX2 SIX6 PAX6 EYA3 CRYAA
9	negative regulation of epithelial cell proliferation	GO:0050680	9.74	SOX2 PAX6 BMP4
10	camera-type eye development	GO:0043010	9.73	STRA6 PAX6 BMP4
11	blood vessel development	GO:0001568	9.72	STRA6 PAX6 BMP4
12	eye development	GO:0001654	9.67	SOX2 SIX6 PAX6
13	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	GO:2001240	9.63	EYA3 EYA2 EYA1
14	forebrain development	GO:0030900	9.62	SOX2 PAX6 OTX2 BMP4
15	positive regulation of DNA repair	GO:0045739	9.61	EYA3 EYA2 EYA1
16	multicellular organism development	GO:0007275	9.61	VSX2 SOX2 SIX6 PAX6 OTX2 EYA3
17	pulmonary valve morphogenesis	GO:0003184	9.6	STRA6 BMP4
18	smooth muscle tissue development	GO:0048745	9.58	STRA6 BMP4
19	pituitary gland development	GO:0021983	9.58	SOX2 PAX6 BMP4
20	cell fate commitment	GO:0045165	9.56	SOX2 PAX6 EYA1 BMP4
21	telencephalon regionalization	GO:0021978	9.54	PAX6 BMP4
22	striated muscle tissue development	GO:0014706	9.52	EYA2 EYA1
23	mesodermal cell fate specification	GO:0007501	9.51	EYA2 EYA1
24	anatomical structure development	GO:0048856	9.46	SIX6 EYA3 EYA2 EYA1
25	histone dephosphorylation	GO:0016576	8.8	EYA3 EYA2 EYA1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphoprotein phosphatase activity	GO:0004721	9.33	EYA3 EYA2 EYA1
2	protein tyrosine phosphatase activity	GO:0004725	9.13	EYA3 EYA2 EYA1
3	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.1	ZBTB8B VSX2 SOX2 SIX6 PAX6 OTX2

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Sources for Syndromic Microphthalmia

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⁵⁶ OMIM

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⁶⁹ TGDB

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⁷⁴ Wikipedia