MCOPS1
MCID: MCR263
MIFTS: 34

Microphthalmia, Syndromic 1 (MCOPS1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Endocrine diseases, Bone diseases, Reproductive diseases, Ear diseases, Respiratory diseases, Cardiovascular diseases, Mental diseases

Aliases & Classifications for Microphthalmia, Syndromic 1

Aliases & Descriptions for Microphthalmia, Syndromic 1:

Name: Microphthalmia, Syndromic 1 54 25 13
Lenz Microphthalmia Syndrome 23 50 25 66
Lenz Dysplasia 50 25 66
Mcops1 50 25 66
Microphthalmia or Anophthalmos with Associated Anomalies 25 66
Lenz Microphthalmia 56 29
Maa 25 66
Syndromic Microphthalmia Type 1 50
Lenz Dysmorphogenic Syndrome 25
Microphthalmia, Syndromic, 1 66
Microphthalmia Syndromic 1 50
Microphthalmia, Lenz Type 56
Microphthalmia Lenz Type 50
Lenz Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
microphthalmia, lenz type
Inheritance: X-linked recessive; Age of onset: Neonatal;

GeneReviews:

23
microphthalmia, syndromic 1:
Inheritance x-linked inheritance


GeneReviews:

23
Penetrance An insufficient number of cases of lenz microphthalmia exist to comment on penetrance...

Classifications:



External Ids:

OMIM 54 309800
Orphanet 56 ORPHA568
ICD10 via Orphanet 34 Q11.2
UMLS via Orphanet 70 C0796016
MedGen 40 C0796016
MeSH 42 D008850

Summaries for Microphthalmia, Syndromic 1

OMIM : 54 Lenz microphthalmia syndrome is a rare multisystem condition defined by the canonical features of unilateral or... (309800) more...

MalaCards based summary : Microphthalmia, Syndromic 1, also known as lenz microphthalmia syndrome, is related to lenz microphthalmia syndromic and jorgenson lenz syndrome, and has symptoms including seizures, finger syndactyly and nystagmus. An important gene associated with Microphthalmia, Syndromic 1 is NAA10 (N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit). Affiliated tissues include eye, heart and brain.

Genetics Home Reference : 25 Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.

NIH Rare Diseases : 50 lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body.  eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. eye symptoms may affect one or both eyes and may cause vision loss or blindness.  other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system and occasionally heart defects.  around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe. mutations in the bcor gene cause some cases of lenz microphthalmia syndrome. the other causative gene(s) have yet to be identified. this condition is inherited in an x-linked recessive fashion. last updated: 8/26/2010

UniProtKB/Swiss-Prot : 66 Microphthalmia, syndromic, 1: A rare syndrome defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. 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. Anomalies of the digits, teeth, and ears are hallmarks of MCOPS1. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected MCOPS1 individuals.

GeneReviews: NBK1521

Related Diseases for Microphthalmia, Syndromic 1

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 1:



Diseases related to Microphthalmia, Syndromic 1

Symptoms & Phenotypes for Microphthalmia, Syndromic 1

Symptoms by clinical synopsis from OMIM:

309800

Clinical features from OMIM:

309800

Human phenotypes related to Microphthalmia, Syndromic 1:

56 32 (show top 50) (show all 81)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
3 nystagmus 56 32 Occasional (29-5%) HP:0000639
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
6 scoliosis 56 32 Occasional (29-5%) HP:0002650
7 kyphosis 56 32 Occasional (29-5%) HP:0002808
8 hyperlordosis 56 32 Occasional (29-5%) HP:0003307
9 self-injurious behavior 56 32 Occasional (29-5%) HP:0100716
10 hearing impairment 56 32 Occasional (29-5%) HP:0000365
11 cataract 56 32 Occasional (29-5%) HP:0000518
12 microcephaly 56 32 Frequent (79-30%) HP:0000252
13 visual impairment 56 32 Occasional (29-5%) HP:0000505
14 short stature 56 32 Frequent (79-30%) HP:0004322
15 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
16 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
17 webbed neck 56 32 Occasional (29-5%) HP:0000465
18 chorioretinal coloboma 56 32 Frequent (79-30%) HP:0000567
19 microphthalmia 56 32 Very frequent (99-80%) HP:0000568
20 hypospadias 56 32 Frequent (79-30%) HP:0000047
21 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
22 glaucoma 56 32 Frequent (79-30%) HP:0000501
23 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
24 renal hypoplasia/aplasia 56 32 Frequent (79-30%) HP:0008678
25 abnormality of dental morphology 56 32 Frequent (79-30%) HP:0006482
26 long thorax 56 32 Occasional (29-5%) HP:0100818
27 iris coloboma 56 32 Frequent (79-30%) HP:0000612
28 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
29 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
30 external ear malformation 56 32 Frequent (79-30%) HP:0008572
31 microcornea 56 32 Frequent (79-30%) HP:0000482
32 abnormality of the clavicle 56 32 Occasional (29-5%) HP:0000889
33 hydronephrosis 56 32 Frequent (79-30%) HP:0000126
34 optic nerve coloboma 56 32 Frequent (79-30%) HP:0000588
35 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
36 hydroureter 56 32 Frequent (79-30%) HP:0000072
37 oral cleft 56 32 Frequent (79-30%) HP:0000202
38 abnormality of the shoulder 56 32 Occasional (29-5%) HP:0003043
39 ankyloblepharon 56 32 Occasional (29-5%) HP:0009755
40 complete duplication of thumb phalanx 56 32 Frequent (79-30%) HP:0009943
41 low-set ears 32 HP:0000369
42 pectus excavatum 32 HP:0000767
43 clinodactyly 32 HP:0030084
44 ptosis 32 HP:0000508
45 muscular hypotonia 32 HP:0001252
46 abnormality of the teeth 56 Frequent (79-30%)
47 blindness 32 HP:0000618
48 malformation of the heart and great vessels 56 Occasional (29-5%)
49 narrow chest 32 HP:0000774
50 recurrent otitis media 32 HP:0000403

Drugs & Therapeutics for Microphthalmia, Syndromic 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Molecular Analysis of Microphthalmia/Anophthalmia Completed NCT00011843

Search NIH Clinical Center for Microphthalmia, Syndromic 1

Genetic Tests for Microphthalmia, Syndromic 1

Genetic tests related to Microphthalmia, Syndromic 1:

id Genetic test Affiliating Genes
1 Lenz Microphthalmia Syndrome 29

Anatomical Context for Microphthalmia, Syndromic 1

MalaCards organs/tissues related to Microphthalmia, Syndromic 1:

39
Eye, Heart, Brain, Skin

Publications for Microphthalmia, Syndromic 1

Variations for Microphthalmia, Syndromic 1

ClinVar genetic disease variations for Microphthalmia, Syndromic 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NAA10 NM_003491.3(NAA10): c.471+2T> A single nucleotide variant Pathogenic rs587776457 GRCh37 Chromosome X, 153196214: 153196214

Expression for Microphthalmia, Syndromic 1

Search GEO for disease gene expression data for Microphthalmia, Syndromic 1.

Pathways for Microphthalmia, Syndromic 1

GO Terms for Microphthalmia, Syndromic 1

Sources for Microphthalmia, Syndromic 1

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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32 HPO
33 ICD10
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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