MCOPS1
MCID: MCR263
MIFTS: 47

Microphthalmia, Syndromic 1 (MCOPS1)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Microphthalmia, Syndromic 1

MalaCards integrated aliases for Microphthalmia, Syndromic 1:

Name: Microphthalmia, Syndromic 1 57 43 13
Lenz Microphthalmia Syndrome 57 73 20 43 72 29 6
Lenz Dysplasia 57 12 20 43 72
Mcops1 57 12 20 43 72
Microphthalmia, Syndromic 4 72 44 70
Microphthalmia or Anophthalmos with Associated Anomalies 43 72
Syndromic Microphthalmia 1 12 15
Microphthalmia Syndromic 4 20 6
Lenz Microphthalmia 12 58
Mcops4 20 72
Maa 43 72
Microphthalmia, Syndromic 4, Formerly; Mcops4, Formerly 57
Microphthalmia, Syndromic 4, Formerly 57
Microphthalmia, Syndromic, Type 1 39
Syndromic Microphthalmia Type 1 20
Syndromic Microphthalmia Type 4 20
Lenz Dysmorphogenic Syndrome 43
Microphthalmia, Syndromic, 1 72
Syndromic Microphthalmia 4 12
Microphthalmia Syndromic 1 20
Microphthalmia, Lenz Type 58
Lenz Type Microphthalmia 12
Microphthalmia Lenz Type 20
Mcops4, Formerly 57
Anop1, Formerly 57
Maa, Formerly 57
Lenz Syndrome 43
Anop1 72

Characteristics:

Orphanet epidemiological data:

58
microphthalmia, lenz type
Inheritance: X-linked recessive; Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
mild expression in heterozygous carriers
multiple spontaneous abortions in obligate carriers
inter- and intrafamilial clinical variability

Inheritance:
x-linked


HPO:

31
microphthalmia, syndromic 1:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Microphthalmia, Syndromic 1

GARD : 20 Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens ( cataracts ), uncontrolled eye movements ( nystagmus ),a gap or split in structures that make up the eye ( coloboma ) and glaucoma. These 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, brain and heart. Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe. There are at least 10 different types of syndromic microphthalmia that are caused by mutations in different genes. Most cases of Lenz microphthalmia are caised by mutations of the BCOR gene and are inherited in an X-linked recessive pattern. Other forms of syndromic microphthalmia are inherited in different patterns depending on the gene involved. There is no specific treatment for Lenz microphthalmia, and the long term outlook is based on the symptoms.

MalaCards based summary : Microphthalmia, Syndromic 1, also known as lenz microphthalmia syndrome, is related to microphthalmia and coloboma of macula. An important gene associated with Microphthalmia, Syndromic 1 is NAA10 (N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit). Affiliated tissues include eye and heart, and related phenotypes are microphthalmia and intellectual disability

Disease Ontology : 12 A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has material basis in mutation in NAA10 on chromosome Xq28.

MedlinePlus Genetics : 43 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.The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes.  People with this condition are born with eyeballs that are abnormally small (microphthalmia) or absent (anophthalmia), leading to vision loss or blindness. Other eye problems can include clouding of the lens (cataract), involuntary eye movements (nystagmus), a gap or split in structures that make up the eye (coloboma), and a higher risk of an eye disease called glaucoma.Abnormalities of the ears, teeth, hands, skeleton, and urinary system are also frequently seen in Lenz microphthalmia syndrome. Less commonly, heart defects have been reported in affected individuals. Many people with this condition have delayed development or intellectual disability ranging from mild to severe.

OMIM® : 57 Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families (Slavotinek et al., 2005). (309800) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of... more...

Related Diseases for Microphthalmia, Syndromic 1

Diseases in the Syndromic Microphthalmia family:

Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13 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 Microphthalmia, Syndromic 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 30.8 STRA6 PQBP1 NAA10 HCCS BCOR
2 coloboma of macula 30.2 STRA6 PQBP1 H2AC18
3 microphthalmia, syndromic 2 29.7 PCGF1 KDM2B HCCS H2AC18 BCOR
4 syndromic microphthalmia 29.7 STRA6 PCGF1 NAA15 NAA10 HYPK H2AC18
5 ogden syndrome 28.3 THOC7 NAA60 NAA50 NAA40 NAA35 NAA30
6 cenani-lenz syndactyly syndrome 11.4
7 jorgenson lenz syndrome 11.3
8 anophthalmos with limb anomalies 11.2
9 roberts-sc phocomelia syndrome 11.2
10 microphthalmia-ankyloblepharon-intellectual disability syndrome 11.0
11 fryns microphthalmia syndrome 10.5
12 microcephaly 10.4
13 melanoma 10.3
14 pulmonary embolism 10.3
15 hepatopulmonary syndrome 10.2
16 chromosome 2q35 duplication syndrome 10.2
17 cryptorchidism, unilateral or bilateral 10.2
18 alacrima, achalasia, and mental retardation syndrome 10.2
19 ptosis 10.2
20 hypospadias 10.2
21 microphthalmia, syndromic 13 10.2 NAA10 HCCS
22 otopalatodigital syndrome, type i 10.1 H2AC18 GLYATL1
23 eastern equine encephalitis 10.1 NAA30 NAA20
24 hepatocellular carcinoma 10.1
25 pulmonary hypertension 10.1
26 portal hypertension 10.1
27 dilated cardiomyopathy 10.1
28 pulmonary emphysema 10.1
29 pectus excavatum 10.1
30 retinal detachment 10.1
31 anus, imperforate 10.1
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
33 scoliosis 10.1
34 sclerocornea 10.1
35 renal hypoplasia 10.1
36 spastic diplegia 10.1
37 blount's disease 10.1
38 sleep disorder 10.1
39 spinal stenosis 10.1
40 b-cell lymphoma 10.1
41 cataract 10.1
42 cleft lip 10.1
43 coloboma of iris 10.1
44 hypotonia 10.1
45 cleft lip/palate 10.1
46 syndromic microphthalmia-anophthalmia-coloboma 10.1
47 colobomatous microphthalmia 10.1
48 kidney clear cell sarcoma 10.1 PCGF1 BCOR
49 renal hypodysplasia/aplasia 1 10.0
50 oculodentodigital dysplasia 10.0

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



Diseases related to Microphthalmia, Syndromic 1

Symptoms & Phenotypes for Microphthalmia, Syndromic 1

Human phenotypes related to Microphthalmia, Syndromic 1:

58 31 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
2 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
3 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
6 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
7 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
8 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
9 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
10 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
11 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
12 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
13 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
14 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
15 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
16 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
17 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
18 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
19 optic nerve coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000588
20 hydroureter 58 31 frequent (33%) Frequent (79-30%) HP:0000072
21 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
22 complete duplication of thumb phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0009943
23 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
24 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
25 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
26 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
27 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
28 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
29 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
30 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
31 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
32 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
33 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
34 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
35 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
36 ankyloblepharon 58 31 occasional (7.5%) Occasional (29-5%) HP:0009755
37 long thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100818
38 pulmonary hypoplasia 31 occasional (7.5%) HP:0002089
39 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
40 autistic behavior 31 occasional (7.5%) HP:0000729
41 seizure 31 very rare (1%) HP:0001250
42 abnormal clavicle morphology 31 occasional (7.5%) HP:0000889
43 abnormal shoulder morphology 31 occasional (7.5%) HP:0003043
44 high palate 31 very rare (1%) HP:0000218
45 pectus excavatum 31 very rare (1%) HP:0000767
46 motor delay 31 very rare (1%) HP:0001270
47 anophthalmia 31 very rare (1%) HP:0000528
48 generalized hypotonia 31 very rare (1%) HP:0001290
49 clinodactyly 31 very rare (1%) HP:0030084
50 prominent fingertip pads 31 very rare (1%) HP:0001212

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
ventriculomegaly
spina bifida
neural tube defect
more
Head And Neck Eyes:
blindness
anophthalmia
microphthalmia
microcornea
ankyloblepharon
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Chest External Features:
pectus excavatum
long cylindrical thorax

Genitourinary Ureters:
vesicoureteral reflux
hydroureter

Abdomen Gastrointestinal:
rectal prolapse
pyloric stenosis
megacolon

Skeletal Hands:
clinodactyly
syndactyly
double thumbs (in some patients)
fetal pads of digits

Growth Other:
growth retardation

Head And Neck Teeth:
crowded teeth
agenesis of upper lateral incisors
irregular lower incisors

Respiratory Airways:
laryngotracheobronchomalacia (in some patients)

Skin Nails Hair Skin:
fetal pads of digits

Skeletal Spine:
scoliosis
spina bifida
exaggerated lumbar lordosis

Head And Neck Mouth:
cleft palate
high arched palate

Head And Neck Ears:
low-set ears
recurrent otitis media
preauricular skin tags
overfolded helices

Genitourinary Kidneys:
renal hypoplasia/aplasia

Genitourinary External Genitalia Male:
hypospadias
small penis

Neurologic Behavioral Psychiatric Manifestations:
self-mutilation
aggressiveness
autistic behavior (in some patients)

Skeletal Feet:
clinodactyly
syndactyly
fetal pads of digits

Chest Ribs Sternum Clavicles And Scapulae:
narrow shoulders
sloping shoulders
underdeveloped clavicle

Skeletal Limbs:
achilles tendon shortening

Respiratory Lung:
pulmonary hypoplasia (in some patients)

Clinical features from OMIM®:

309800 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Microphthalmia, Syndromic 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vesicular stomatitis virus (VSV) infection GR00241-A-1 8.8 GLYATL1 NAA11 PCGF1

Drugs & Therapeutics for Microphthalmia, Syndromic 1

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 1

Cochrane evidence based reviews: microphthalmia, syndromic 4

Genetic Tests for Microphthalmia, Syndromic 1

Genetic tests related to Microphthalmia, Syndromic 1:

# Genetic test Affiliating Genes
1 Lenz Microphthalmia Syndrome 29 BCOR NAA10

Anatomical Context for Microphthalmia, Syndromic 1

MalaCards organs/tissues related to Microphthalmia, Syndromic 1:

40
Eye, Heart

Publications for Microphthalmia, Syndromic 1

Articles related to Microphthalmia, Syndromic 1:

(show all 36)
# Title Authors PMID Year
1
NAA10 polyadenylation signal variants cause syndromic microphthalmia. 57 6 61
30842225 2019
2
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. 57 61 6
24431331 2014
3
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. 6 57 61
11426460 2001
4
A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene. 6 57
16114045 2005
5
X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. 57 6
1679229 1991
6
Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations. 61 57
18618992 2008
7
A case of Lenz microphthalmia syndrome. 61 57
9222975 1997
8
The genetic architecture of microphthalmia, anophthalmia and coloboma. 57
24859618 2014
9
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
10
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57
15389708 2005
11
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 57
12543751 2003
12
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. 57
10711890 2000
13
Lenz microphthalmia--a case report. 57
6890884 1982
14
[Recessive, sex-limited microphthalmia with multiple abnormalities]. 57
13300470 1955
15
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature. 61
33491151 2021
16
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. 61
31127942 2019
17
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. 61
30450806 2018
18
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. 61
26522270 2015
19
Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome. 61
26196063 2015
20
Lenz micropthalmia syndrome with associated orbital cysts. 61
24131950 2014
21
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. 61
23815237 2013
22
Orthopaedic manifestations in a case of Lenz microphthalmia syndrome. 61
21841432 2011
23
Lenz microphthalmia syndrome? 61
21253775 2011
24
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 61
20003547 2009
25
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 61
19367324 2009
26
Lenz microphthalmic syndrome in an Indian patient. 61
17951907 2007
27
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 61
17033686 2007
28
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. 61
15770227 2005
29
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. 61
15216542 2004
30
Lenz microphthalmia syndrome with dental anomalies: a case report. 61
14998213 2003
31
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? 61
12116202 2002
32
Lenz Microphthalmia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301694 2002
33
[Lenz microphthalmia syndrome]. 61
11529025 2001
34
Lenz microphthalmia syndrome: three additional cases with rare associated anomalies. 61
10893665 2000
35
A sporadic case of Lenz microphthalmia syndrome. 61
8297071 1993
36
The Lenz microphthalmia syndrome. 61
3276203 1988

Variations for Microphthalmia, Syndromic 1

ClinVar genetic disease variations for Microphthalmia, Syndromic 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NAA10 NM_003491.4(NAA10):c.471+2T>A SNV Pathogenic 102423 rs587776457 GRCh37: X:153196214-153196214
GRCh38: X:153930761-153930761
2 NAA10 NM_003491.4(NAA10):c.*43A>G SNV Pathogenic 617463 rs1603289772 GRCh37: X:153195397-153195397
GRCh38: X:153929944-153929944
3 NAA10 NM_003491.4(NAA10):c.*39A>G SNV Pathogenic 617462 rs1603289774 GRCh37: X:153195401-153195401
GRCh38: X:153929948-153929948
4 NAA10 NM_003491.4(NAA10):c.*40A>G SNV Pathogenic 617458 rs1342269961 GRCh37: X:153195400-153195400
GRCh38: X:153929947-153929947
5 NAA10 NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) SNV Pathogenic 973227 GRCh37: X:153197853-153197853
GRCh38: X:153932400-153932400
6 BCOR NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) SNV Likely pathogenic 210518 rs144722432 GRCh37: X:39932564-39932564
GRCh38: X:40073311-40073311
7 NAA10 NM_003491.4(NAA10):c.*40A>G SNV Likely pathogenic 617458 rs1342269961 GRCh37: X:153195400-153195400
GRCh38: X:153929947-153929947
8 NAA10 NM_003491.4(NAA10):c.*39A>G SNV Likely pathogenic 617462 rs1603289774 GRCh37: X:153195401-153195401
GRCh38: X:153929948-153929948
9 NAA10 NM_003491.4(NAA10):c.*43A>G SNV Likely pathogenic 617463 rs1603289772 GRCh37: X:153195397-153195397
GRCh38: X:153929944-153929944
10 BCOR NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) SNV Uncertain significance 95768 rs398124312 GRCh37: X:39932474-39932474
GRCh38: X:40073221-40073221

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

Cellular components related to Microphthalmia, Syndromic 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.03 THOC7 PQBP1 PCGF1 NAA50 NAA40 NAA30
2 PcG protein complex GO:0031519 9.26 PCGF1 KDM2B
3 NatC complex GO:0031417 8.96 NAA35 NAA30
4 NatA complex GO:0031415 8.92 NAA50 NAA15 NAA11 NAA10

Biological processes related to Microphthalmia, Syndromic 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone H4 acetylation GO:0043967 9.54 NAA60 NAA50 NAA40
2 N-terminal peptidyl-methionine acetylation GO:0017196 9.35 NAA60 NAA35 NAA30 NAA20 NAA15
3 histone H2A monoubiquitination GO:0035518 9.33 PCGF1 KDM2B BCOR
4 N-terminal peptidyl-glutamic acid acetylation GO:0018002 9.32 NAA11 NAA10
5 N-terminal peptidyl-serine acetylation GO:0017198 9.26 NAA11 NAA10
6 N-terminal protein amino acid acetylation GO:0006474 9.17 NAA60 NAA50 NAA40 NAA35 NAA15 NAA11

Molecular functions related to Microphthalmia, Syndromic 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 THOC7 STRA6 PQBP1 PCGF1 NAA60 NAA50
2 transferase activity GO:0016740 10.06 NAA60 NAA50 NAA40 NAA30 NAA20 NAA11
3 transferase activity, transferring acyl groups GO:0016746 9.76 NAA60 NAA50 NAA40 NAA30 NAA20 NAA11
4 H4 histone acetyltransferase activity GO:0010485 9.5 NAA60 NAA50 NAA40
5 N-acetyltransferase activity GO:0008080 9.5 NAA60 NAA50 NAA40 NAA30 NAA20 NAA11
6 acetyltransferase activity GO:0016407 9.46 NAA15 NAA10
7 peptide-serine-N-acetyltransferase activity GO:1990189 9.43 NAA40 NAA11 NAA10
8 peptide-glutamate-N-acetyltransferase activity GO:1990190 9.37 NAA11 NAA10
9 peptide alpha-N-acetyltransferase activity GO:0004596 9.17 NAA60 NAA50 NAA30 NAA20 NAA15 NAA11

Sources for Microphthalmia, Syndromic 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....