MCID: MCR251
MIFTS: 30

Microphthalmia, Syndromic 6

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

Aliases & Classifications for Microphthalmia, Syndromic 6

MalaCards integrated aliases for Microphthalmia, Syndromic 6:

Name: Microphthalmia, Syndromic 6 57 13 73
Mcops6 57 53 59 75
Microphthalmia with Brain and Digit Developmental Anomalies 57 53 75
Microphthalmia and Pituitary Anomalies 57 53 75
Microphthalmia Syndromic 6 53 29 6
Syndromic Microphthalmia Type 6 53 59
Orofacial Cleft 11 53 73
Anophthalmia, Clinical, with Micrognathia, Malformed Ears, Digital Anomalies, and Abnormal External Genitalia 57
Clinical Anophthalmia with Micrognathia, Malformed Ears, Digital Anomalies and Abnormal External Genitalia 75
Anophthalmia Clinical with Micrognathia Malformed Ears Digital Anomalies and Abnormal External Genitalia 53
Microphthalmia with Brain and Digit Anomalies 59
Microphthalmia Syndromic, Type 6 40
Microphthalmia, Syndromic, 6 75
Bakrania-Ragge Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microphthalmia with brain and digit anomalies
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
microphthalmia, syndromic 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 6

NIH Rare Diseases : 53 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. 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 agenesis of corpus callosum and finger syndactyly

UniProtKB/Swiss-Prot : 75 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 12.5

Symptoms & Phenotypes for Microphthalmia, Syndromic 6

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Microphthalmia, Syndromic 6:

59 32 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 finger syndactyly 59 32 very rare (1%) Occasional (29-5%) HP:0006101
3 high palate 59 32 very rare (1%) Occasional (29-5%) HP:0000218
4 nystagmus 59 32 very rare (1%) Occasional (29-5%) HP:0000639
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 global developmental delay 59 32 very rare (1%) Frequent (79-30%) HP:0001263
8 microcephaly 59 32 very rare (1%) Occasional (29-5%) HP:0000252
9 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
10 cryptorchidism 59 32 very rare (1%) Occasional (29-5%) HP:0000028
11 myopia 59 32 very rare (1%) Occasional (29-5%) HP:0000545
12 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
13 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
14 nail dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002164
15 sclerocornea 59 32 very rare (1%) Occasional (29-5%) HP:0000647
16 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
17 microcornea 59 32 very rare (1%) Frequent (79-30%) HP:0000482
18 proximal placement of thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009623
19 postaxial foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001830
20 anophthalmia 59 32 very rare (1%) Very frequent (99-80%) HP:0000528
21 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
22 retinal dystrophy 59 32 very rare (1%) Occasional (29-5%) HP:0000556
23 inferior vermis hypoplasia 59 32 very rare (1%) Occasional (29-5%) HP:0007068
24 malar flattening 32 HP:0000272
25 low-set ears 32 very rare (1%) HP:0000369
26 hypothyroidism 32 very rare (1%) HP:0000821
27 muscular hypotonia 32 very rare (1%) HP:0001252
28 failure to thrive 32 very rare (1%) HP:0001508
29 hearing impairment 32 very rare (1%) HP:0000365
30 macrotia 32 HP:0000400
31 blindness 32 very rare (1%) HP:0000618
32 brachycephaly 32 very rare (1%) HP:0000248
33 cleft palate 32 very rare (1%) HP:0000175
34 micrognathia 32 very rare (1%) HP:0000347
35 retrognathia 32 very rare (1%) HP:0000278
36 absent speech 32 very rare (1%) HP:0001344
37 protruding ear 32 very rare (1%) HP:0000411
38 anterior hypopituitarism 32 very rare (1%) HP:0000830
39 ventriculomegaly 32 very rare (1%) HP:0002119
40 cerebral cortical atrophy 32 very rare (1%) HP:0002120
41 cerebellar hypoplasia 32 very rare (1%) HP:0001321
42 hypospadias 32 very rare (1%) HP:0000047
43 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
44 brachydactyly 32 HP:0001156
45 renal hypoplasia 32 very rare (1%) HP:0000089
46 high forehead 32 HP:0000348
47 midface retrusion 32 HP:0011800
48 bifid scrotum 32 very rare (1%) HP:0000048
49 facial asymmetry 32 very rare (1%) HP:0000324
50 preaxial hand polydactyly 32 very rare (1%) HP:0001177

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 29 BMP4

Anatomical Context for Microphthalmia, Syndromic 6

MalaCards organs/tissues related to Microphthalmia, Syndromic 6:

41
Brain, Eye, Pituitary, Kidney, Tongue, Hypothalamus, Cerebellum

Publications for Microphthalmia, Syndromic 6

Variations for Microphthalmia, Syndromic 6

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

75
# 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 15)
# 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 BMP4, DEL deletion Pathogenic
5 BMP4 NM_001202.5(BMP4): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh37 Chromosome 14, 54417385: 54417385
6 BMP4 NM_001202.5(BMP4): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh38 Chromosome 14, 53950667: 53950667
7 BMP4 BMP4, 1-BP DUP, 171C duplication Pathogenic
8 BMP4 NM_001202.5(BMP4): c.362A> G (p.His121Arg) single nucleotide variant Pathogenic rs376960358 GRCh37 Chromosome 14, 54418579: 54418579
9 BMP4 NM_001202.5(BMP4): c.362A> G (p.His121Arg) single nucleotide variant Pathogenic rs376960358 GRCh38 Chromosome 14, 53951861: 53951861
10 BMP4 NM_001202.5(BMP4): c.751C> T (p.His251Tyr) single nucleotide variant Uncertain significance rs200671094 GRCh37 Chromosome 14, 54417226: 54417226
11 BMP4 NM_001202.5(BMP4): c.751C> T (p.His251Tyr) single nucleotide variant Uncertain significance rs200671094 GRCh38 Chromosome 14, 53950508: 53950508
12 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh38 Chromosome 14, 53952147: 53952147
13 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh37 Chromosome 14, 54418865: 54418865
14 BMP4 NM_001202.5(BMP4): c.361C> T (p.His121Tyr) single nucleotide variant Uncertain significance rs754308298 GRCh37 Chromosome 14, 54418580: 54418580
15 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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