MCID: MCR263
MIFTS: 37

Microphthalmia, Syndromic 1

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

Aliases & Classifications for Microphthalmia, Syndromic 1

MalaCards integrated aliases for Microphthalmia, Syndromic 1:

Name: Microphthalmia, Syndromic 1 54 25 13
Lenz Microphthalmia Syndrome 23 50 25 71 29
Lenz Dysplasia 50 25 71
Mcops1 50 25 71
Microphthalmia or Anophthalmos with Associated Anomalies 25 71
Maa 25 71
Syndromic Microphthalmia Type 1 50
Lenz Dysmorphogenic Syndrome 25
Microphthalmia, Syndromic, 1 71
Microphthalmia Syndromic 1 50
Microphthalmia, Lenz Type 56
Microphthalmia Lenz Type 50
Lenz Microphthalmia 56
Lenz Syndrome 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
x-linked

Miscellaneous:
mild expression in heterozygous carriers
multiple spontaneous abortions in obligate carriers


HPO:

32
microphthalmia, syndromic 1:
Inheritance x-linked inheritance


GeneReviews:

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

Classifications:



Summaries for Microphthalmia, Syndromic 1

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

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 short stature, scoliosis and visual impairment. An important gene associated with Microphthalmia, Syndromic 1 is NAA10 (N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit). Affiliated tissues include eye, heart and skin.

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.

OMIM : 54
Lenz microphthalmia syndrome is a rare multisystem condition defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Anomalies of the digits, teeth, and ears are also hallmarks of the syndrome. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected individuals (summary by Esmailpour et al., 2014). (309800)

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
exaggerated lumbar lordosis

Growth- Other:
growth retardation

Genitourinary- External Genitalia Male:
hypospadias

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Feet:
clinodactyly
syndactyly
fetal pads of digits

Chest- External Features:
pectus excavatum
long cylindrical thorax

Genitourinary- Ureters:
hydroureter

Abdomen- Gastroin testinal:
megacolon
pyloric stenosis
rectal prolapse

Respiratory- Lung:
pulmonary hypoplasia (in some patients)

Respiratory- Airways:
laryngotracheobronchomalacia (in some patients)

Skin Nails & Hair- Skin:
fetal pads of digits

Neurologic- Central Nervous System:
hypotonia
delayed motor development
seizures
mental retardation (in some patients)

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

Head And Neck- Eyes:
microphthalmia
microcornea
blindness
anophthalmia
blepharoptosis
more
Skeletal- Hands:
clinodactyly
syndactyly
double thumbs (in some patients)
fetal pads of digits

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

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

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

Head And Neck- Mouth:
high arched palate

Skeletal- Limbs:
achilles tendon shortening

Genitourinary- Kidneys:
renal hypoplasia/aplasia


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 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
7 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
9 microphthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000568
10 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
11 hydronephrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000126
12 microcornea 56 32 frequent (33%) Frequent (79-30%) HP:0000482
13 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
14 iris coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000612
15 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
16 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
17 webbed neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000465
18 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
19 self-injurious behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0100716
20 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
21 hydroureter 56 32 frequent (33%) Frequent (79-30%) HP:0000072
22 hyperlordosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003307
23 preauricular skin tag 56 32 occasional (7.5%) Occasional (29-5%) HP:0000384
24 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
25 chorioretinal coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000567
26 optic nerve coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000588
27 delayed eruption of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000684
28 ankyloblepharon 56 32 occasional (7.5%) Occasional (29-5%) HP:0009755
29 renal hypoplasia/aplasia 56 32 frequent (33%) Frequent (79-30%) HP:0008678
30 oral cleft 56 32 frequent (33%) Frequent (79-30%) HP:0000202
31 external ear malformation 56 32 frequent (33%) Frequent (79-30%) HP:0008572
32 long thorax 56 32 occasional (7.5%) Occasional (29-5%) HP:0100818
33 neurological speech impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002167
34 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
35 abnormality of dental morphology 56 32 frequent (33%) Frequent (79-30%) HP:0006482
36 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
37 abnormality of the clavicle 56 32 occasional (7.5%) Occasional (29-5%) HP:0000889
38 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
39 abnormality of the shoulder 56 32 occasional (7.5%) Occasional (29-5%) HP:0003043
40 complete duplication of thumb phalanx 56 32 frequent (33%) Frequent (79-30%) HP:0009943
41 ptosis 32 HP:0000508
42 low-set ears 32 HP:0000369
43 lumbar hyperlordosis 32 HP:0002938
44 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089
45 kyphoscoliosis 32 HP:0002751
46 camptodactyly 32 HP:0012385
47 narrow chest 32 HP:0000774
48 blindness 32 HP:0000618
49 aggressive behavior 32 HP:0000718
50 clinodactyly 32 HP:0030084

Drugs & Therapeutics for Microphthalmia, Syndromic 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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, 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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