MCID: MCR263
MIFTS: 40

Microphthalmia, Syndromic 1

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

Aliases & Classifications for Microphthalmia, Syndromic 1

MalaCards integrated aliases for Microphthalmia, Syndromic 1:

Name: Microphthalmia, Syndromic 1 57 25 13
Lenz Microphthalmia Syndrome 57 76 24 53 25 75 29 6
Lenz Dysplasia 57 53 25 75
Mcops1 57 53 25 75
Microphthalmia or Anophthalmos with Associated Anomalies 25 75
Maa 25 75
Microphthalmia, Syndromic, Type 1 40
Syndromic Microphthalmia Type 1 53
Lenz Dysmorphogenic Syndrome 25
Microphthalmia, Syndromic, 1 75
Microphthalmia Syndromic 1 53
Microphthalmia, Lenz Type 59
Microphthalmia Lenz Type 53
Lenz Microphthalmia 59
Maa, Formerly 57
Lenz Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
microphthalmia, lenz type
Inheritance: X-linked recessive; Age of onset: Neonatal;

OMIM:

57
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:

24
Penetrance An insufficient number of cases of lenz microphthalmia exist to comment on penetrance...

Classifications:



Summaries for Microphthalmia, Syndromic 1

NIH Rare Diseases : 53 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.

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

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 : 57 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 : 75 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 : 76 Lenz microphthalmia syndrome (or LMS) is a very rare inherited disorder characterized by abnormal... more...

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:

57
Head And Neck Ears:
low-set ears
recurrent otitis media
overfolded helices

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

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

Head And Neck Eyes:
blindness
microphthalmia
microcornea
anophthalmia
blepharoptosis
more
Genitourinary Kidneys:
renal hypoplasia/aplasia

Abdomen Gastrointestinal:
rectal prolapse
pyloric stenosis
megacolon

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

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

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

Chest External Features:
pectus excavatum
long cylindrical thorax

Skeletal Feet:
clinodactyly
syndactyly
fetal pads of digits

Skeletal Spine:
scoliosis
exaggerated lumbar lordosis

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Ureters:
hydroureter

Growth Other:
growth retardation

Head And Neck Mouth:
high arched palate

Skeletal Limbs:
achilles tendon shortening

Respiratory Lung:
pulmonary hypoplasia (in some patients)


Clinical features from OMIM:

309800

Human phenotypes related to Microphthalmia, Syndromic 1:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
9 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
12 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
13 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
14 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
15 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
16 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
17 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
18 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
19 renal hypoplasia/aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008678
20 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
21 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
22 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
23 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
24 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
25 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
26 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
27 long thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0100818
28 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
29 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
30 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
31 microcornea 59 32 frequent (33%) Frequent (79-30%) HP:0000482
32 abnormality of the clavicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000889
33 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
34 optic nerve coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000588
35 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
36 hydroureter 59 32 frequent (33%) Frequent (79-30%) HP:0000072
37 oral cleft 59 32 frequent (33%) Frequent (79-30%) HP:0000202
38 abnormality of the shoulder 59 32 occasional (7.5%) Occasional (29-5%) HP:0003043
39 ankyloblepharon 59 32 occasional (7.5%) Occasional (29-5%) HP:0009755
40 complete duplication of thumb phalanx 59 32 frequent (33%) 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 abnormality of the dentition 59 Frequent (79-30%)
46 blindness 32 HP:0000618
47 malformation of the heart and great vessels 59 Occasional (29-5%)
48 narrow chest 32 HP:0000774
49 growth delay 32 HP:0001510
50 recurrent otitis media 32 HP:0000403

Drugs & Therapeutics for Microphthalmia, Syndromic 1

Interventional clinical trials:


# 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:

# 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:

41
Eye, Heart, Skin

Publications for Microphthalmia, Syndromic 1

Articles related to Microphthalmia, Syndromic 1:

(show all 15)
# Title Authors Year
1
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. ( 24431331 )
2014
2
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. ( 23815237 )
2013
3
Lenz microphthalmia syndrome? ( 21253775 )
2011
4
Orthopaedic manifestations in a case of Lenz microphthalmia syndrome. ( 21841432 )
2011
5
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. ( 19367324 )
2009
6
Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations. ( 18618992 )
2008
7
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. ( 15770227 )
2005
8
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. ( 15004558 )
2004
9
Lenz microphthalmia syndrome with dental anomalies: a case report. ( 14998213 )
2003
10
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. ( 11426460 )
2001
11
Lenz microphthalmia syndrome: three additional cases with rare associated anomalies. ( 10893665 )
2000
12
A case of Lenz microphthalmia syndrome. ( 9222975 )
1997
13
Lenz Microphthalmia Syndrome ( 20301694 )
1993
14
A sporadic case of Lenz microphthalmia syndrome. ( 8297071 )
1993
15
The Lenz microphthalmia syndrome. ( 3276203 )
1988

Variations for Microphthalmia, Syndromic 1

ClinVar genetic disease variations for Microphthalmia, Syndromic 1:

6
# 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
2 NAA10 NM_003491.3(NAA10): c.471+2T> A single nucleotide variant Pathogenic rs587776457 GRCh38 Chromosome X, 153930761: 153930761
3 BCOR NM_017745.5(BCOR): c.2035G> A (p.Val679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144722432 GRCh37 Chromosome X, 39932564: 39932564
4 BCOR NM_017745.5(BCOR): c.2035G> A (p.Val679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144722432 GRCh38 Chromosome X, 40073311: 40073311

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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