MCOPS6
MCID: MCR251
MIFTS: 33

Microphthalmia, Syndromic 6 (MCOPS6)

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

Aliases & Classifications for Microphthalmia, Syndromic 6

MalaCards integrated aliases for Microphthalmia, Syndromic 6:

Name: Microphthalmia, Syndromic 6 58 13 74
Mcops6 58 54 60 76
Microphthalmia with Brain and Digit Developmental Anomalies 58 54 76
Microphthalmia and Pituitary Anomalies 58 54 76
Microphthalmia Syndromic 6 54 30 6
Syndromic Microphthalmia Type 6 54 60
Orofacial Cleft 11 54 74
Anophthalmia, Clinical, with Micrognathia, Malformed Ears, Digital Anomalies, and Abnormal External Genitalia 58
Clinical Anophthalmia with Micrognathia, Malformed Ears, Digital Anomalies and Abnormal External Genitalia 76
Anophthalmia Clinical with Micrognathia Malformed Ears Digital Anomalies and Abnormal External Genitalia 54
Microphthalmia with Brain and Digit Anomalies 60
Microphthalmia Syndromic, Type 6 41
Microphthalmia, Syndromic, 6 76
Bakrania-Ragge Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
microphthalmia with brain and digit anomalies
Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
microphthalmia, syndromic 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 6

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139471Disease definitionMicrophthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, Syndromic 6, also known as mcops6, is related to orofacial cleft 11 and orofacial cleft. An important gene associated with Microphthalmia, Syndromic 6 is BMP4 (Bone Morphogenetic Protein 4). Affiliated tissues include brain, eye and pituitary, and related phenotypes are microphthalmia and anophthalmia

UniProtKB/Swiss-Prot : 76 Microphthalmia, syndromic, 6: A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. 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.

Description from OMIM: 607932

Related Diseases for Microphthalmia, Syndromic 6

Diseases in the Microphthalmia, Syndromic 3 family:

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 Microphthalmia, Syndromic 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 11 33.6 BMP4 MIR5580
2 orofacial cleft 9.5 BMP4 MIR5580

Symptoms & Phenotypes for Microphthalmia, Syndromic 6

Human phenotypes related to Microphthalmia, Syndromic 6:

60 33 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
2 anophthalmia 60 33 very rare (1%) Very frequent (99-80%) HP:0000528
3 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
4 global developmental delay 60 33 very rare (1%) Frequent (79-30%) HP:0001263
5 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
6 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
7 microcornea 60 33 very rare (1%) Frequent (79-30%) HP:0000482
8 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
9 finger syndactyly 60 33 very rare (1%) Occasional (29-5%) HP:0006101
10 high palate 60 33 very rare (1%) Occasional (29-5%) HP:0000218
11 nystagmus 60 33 very rare (1%) Occasional (29-5%) HP:0000639
12 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
13 microcephaly 60 33 very rare (1%) Occasional (29-5%) HP:0000252
14 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
15 cryptorchidism 60 33 very rare (1%) Occasional (29-5%) HP:0000028
16 myopia 60 33 very rare (1%) Occasional (29-5%) HP:0000545
17 nail dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002164
18 sclerocornea 60 33 very rare (1%) Occasional (29-5%) HP:0000647
19 proximal placement of thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009623
20 postaxial foot polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001830
21 abnormality of the hypothalamus-pituitary axis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000864
22 retinal dystrophy 60 33 very rare (1%) Occasional (29-5%) HP:0000556
23 inferior vermis hypoplasia 60 33 very rare (1%) Occasional (29-5%) HP:0007068
24 low-set ears 33 very rare (1%) HP:0000369
25 hypothyroidism 33 very rare (1%) HP:0000821
26 muscular hypotonia 33 very rare (1%) HP:0001252
27 failure to thrive 33 very rare (1%) HP:0001508
28 hearing impairment 33 very rare (1%) HP:0000365
29 blindness 33 very rare (1%) HP:0000618
30 brachycephaly 33 very rare (1%) HP:0000248
31 cleft palate 33 very rare (1%) HP:0000175
32 micrognathia 33 very rare (1%) HP:0000347
33 retrognathia 33 very rare (1%) HP:0000278
34 absent speech 33 very rare (1%) HP:0001344
35 protruding ear 33 very rare (1%) HP:0000411
36 anterior hypopituitarism 33 very rare (1%) HP:0000830
37 ventriculomegaly 33 very rare (1%) HP:0002119
38 cerebral cortical atrophy 33 very rare (1%) HP:0002120
39 cerebellar hypoplasia 33 very rare (1%) HP:0001321
40 hypospadias 33 very rare (1%) HP:0000047
41 clinodactyly of the 5th finger 33 very rare (1%) HP:0004209
42 renal hypoplasia 33 very rare (1%) HP:0000089
43 bifid scrotum 33 very rare (1%) HP:0000048
44 facial asymmetry 33 very rare (1%) HP:0000324
45 preaxial hand polydactyly 33 very rare (1%) HP:0001177
46 plagiocephaly 33 very rare (1%) HP:0001357
47 aplasia/hypoplasia of the corpus callosum 33 very rare (1%) HP:0007370
48 micropenis 33 very rare (1%) HP:0000054
49 abnormality of the cervical spine 33 very rare (1%) HP:0003319
50 adrenal hypoplasia 33 very rare (1%) HP:0000835

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
large ears
fleshy ears
flat ears
more
Head And Neck Head:
brachycephaly
plagiocephaly

Head And Neck Face:
micrognathia
retrognathia
high forehead
facial asymmetry
midface hypoplasia

Head And Neck Eyes:
microphthalmia
anophthalmia, clinical
anophthalmia, true

Skeletal Feet:
syndactyly

Genitourinary Kidneys:
hypoplastic kidneys
hypoplastic adrenal glands

Genitourinary External Genitalia Female:
underdeveloped genitalia

Skeletal Skull:
craniosynostosis, lambdoid

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
preaxial polydactyly
single palmar crease
more
Head And Neck Mouth:
cleft palate
bifid uvula
high-arched palate
small tongue

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
micropenis
small scrotum
hypoplastic foreskin

Endocrine Features:
hypopituitarism
pituitary anomalies
hypothyroidism, secondary

Neurologic Central Nervous System:
cortical atrophy
psychomotor retardation
hypotonia, severe
small cerebellum
absent optic nerves, chiasm, and tracts

Genitourinary Internal Genitalia Female:
absent uterine horn

Skeletal Spine:
cervical vertebral anomalies

Clinical features from OMIM:

607932

Drugs & Therapeutics for Microphthalmia, Syndromic 6

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 6

Genetic Tests for Microphthalmia, Syndromic 6

Genetic tests related to Microphthalmia, Syndromic 6:

# Genetic test Affiliating Genes
1 Microphthalmia Syndromic 6 30 BMP4

Anatomical Context for Microphthalmia, Syndromic 6

MalaCards organs/tissues related to Microphthalmia, Syndromic 6:

42
Brain, Eye, Pituitary, Hypothalamus, Kidney, Cerebellum, Adrenal Gland

Publications for Microphthalmia, Syndromic 6

Articles related to Microphthalmia, Syndromic 6:

# Title Authors Year
1
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. ( 21340693 )
2011
2
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. ( 19249007 )
2009
3
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. ( 18252212 )
2008

Variations for Microphthalmia, Syndromic 6

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Syndromic 6:

76
# Symbol AA change Variation ID SNP ID
1 BMP4 p.Glu93Gly VAR_043532 rs121912765

ClinVar genetic disease variations for Microphthalmia, Syndromic 6:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMP4 BMP4, 2-BP DEL, 226AG deletion Pathogenic
2 BMP4 NM_001202.5(BMP4): c.278A> G (p.Glu93Gly) single nucleotide variant Pathogenic rs121912765 GRCh37 Chromosome 14, 54418663: 54418663
3 BMP4 NM_001202.5(BMP4): c.278A> G (p.Glu93Gly) single nucleotide variant Pathogenic rs121912765 GRCh38 Chromosome 14, 53951945: 53951945
4 BMP4 NM_001202.5(BMP4): c.860G> A (p.Arg287His) single nucleotide variant Benign rs121912768 GRCh37 Chromosome 14, 54417117: 54417117
5 BMP4 NM_001202.5(BMP4): c.860G> A (p.Arg287His) single nucleotide variant Benign rs121912768 GRCh38 Chromosome 14, 53950399: 53950399
6 BMP4 BMP4, DEL deletion Pathogenic
7 BMP4 NM_001202.5(BMP4): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh37 Chromosome 14, 54417385: 54417385
8 BMP4 NM_001202.5(BMP4): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh38 Chromosome 14, 53950667: 53950667
9 BMP4 BMP4, 1-BP DUP, 171C duplication Pathogenic
10 BMP4 NM_001202.5(BMP4): c.362A> G (p.His121Arg) single nucleotide variant Pathogenic rs376960358 GRCh37 Chromosome 14, 54418579: 54418579
11 BMP4 NM_001202.5(BMP4): c.362A> G (p.His121Arg) single nucleotide variant Pathogenic rs376960358 GRCh38 Chromosome 14, 53951861: 53951861
12 BMP4 NM_001202.5(BMP4): c.751C> T (p.His251Tyr) single nucleotide variant Uncertain significance rs200671094 GRCh37 Chromosome 14, 54417226: 54417226
13 BMP4 NM_001202.5(BMP4): c.751C> T (p.His251Tyr) single nucleotide variant Uncertain significance rs200671094 GRCh38 Chromosome 14, 53950508: 53950508
14 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh37 Chromosome 14, 54418865: 54418865
15 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh38 Chromosome 14, 53952147: 53952147
16 BMP4 NM_001202.5(BMP4): c.361C> T (p.His121Tyr) single nucleotide variant Uncertain significance rs754308298 GRCh37 Chromosome 14, 54418580: 54418580
17 BMP4 NM_001202.5(BMP4): c.361C> T (p.His121Tyr) single nucleotide variant Uncertain significance rs754308298 GRCh38 Chromosome 14, 53951862: 53951862

Expression for Microphthalmia, Syndromic 6

Search GEO for disease gene expression data for Microphthalmia, Syndromic 6.

Pathways for Microphthalmia, Syndromic 6

GO Terms for Microphthalmia, Syndromic 6

Sources for Microphthalmia, Syndromic 6

3 CDC
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10 dbSNP
11 DGIdb
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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