MCOPS6
MCID: MCR251
MIFTS: 48

Microphthalmia, Syndromic 6 (MCOPS6)

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

Aliases & Classifications for Microphthalmia, Syndromic 6

MalaCards integrated aliases for Microphthalmia, Syndromic 6:

Name: Microphthalmia, Syndromic 6 57 13 44 70
Mcops6 57 12 20 58 72
Microphthalmia with Brain and Digit Anomalies 12 58 29 6
Microphthalmia and Pituitary Anomalies 57 12 20 72
Microphthalmia with Brain and Digit Developmental Anomalies 57 20 72
Syndromic Microphthalmia Type 6 12 20 58
Anophthalmia Clinical with Micrognathia Malformed Ears Digital Anomalies and Abnormal External Genitalia 12 20
Syndromic Microphthalmia 6 12 15
Bakrania-Ragge Syndrome 12 58
Orofacial Cleft 11 20 70
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 72
Microphthalmia Syndromic, Type 6 39
Microphthalmia, Syndromic, 6 72
Microphthalmia Syndromic 6 20

Characteristics:

Orphanet epidemiological data:

58
microphthalmia with brain and digit anomalies
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
microphthalmia, syndromic 6:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Microphthalmia, Syndromic 6

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139471 Definition Microphthalmia 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.

MalaCards based summary : Microphthalmia, Syndromic 6, also known as mcops6, is related to orofacial cleft 11 and orbital cyst. An important gene associated with Microphthalmia, Syndromic 6 is BMP4 (Bone Morphogenetic Protein 4), and among its related pathways/superpathways are NF-KappaB Family Pathway and G-protein signaling RAC1 in cellular process. Affiliated tissues include eye, brain and pituitary, and related phenotypes are anophthalmia and microphthalmia

Disease Ontology : 12 A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has material basis in heterozygous mutation in BMP4 on chromosome 14q22.2.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 607932 PS309800

Related Diseases for Microphthalmia, Syndromic 6

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 11 11.8
2 orbital cyst 10.0 RAX GDF6
3 isolated microphthalmia 10.0 RAX GDF6
4 proximal symphalangism 10.0 GDF6 BMP4
5 brachydactyly, type a2 9.9 GDF6 BMP4
6 shoulder impingement syndrome 9.9 GDF7 GDF6
7 epicondylitis 9.9 GDF7 GDF6
8 microphthalmia, syndromic 8 9.9 RAX PAX6
9 microphthalmia, isolated 3 9.8 RAX PAX6
10 microphthalmia, isolated 2 9.8 RAX PAX6
11 axenfeld-rieger syndrome, type 1 9.8 RAX PAX6
12 sclerocornea 9.8 RAX PAX6
13 gillespie syndrome 9.8 RAX PAX6
14 syndromic microphthalmia 9.8 PAX6 BMP4
15 cakut 9.8 GDF6 BMP4
16 linear skin defects with multiple congenital anomalies 1 9.8 RAX PAX6
17 germ cell and embryonal cancer 9.8 PAX6 BMP4
18 microphthalmia, syndromic 3 9.8 PAX6 GDF6
19 aniridia 1 9.7 PAX6 BMP4
20 physical disorder 9.7 PAX6 BMP4
21 leber congenital amaurosis 17 9.7 GDF7 GDF6 BMP8A
22 microphthalmia, isolated 4 9.7 GDF7 GDF6 BMP8A
23 brachydactyly, type a1, c 9.7 GDF7 GDF6 BMP8A
24 axenfeld-rieger syndrome 9.6 RAX PAX6 BMP4
25 anterior segment dysgenesis 9.6 PAX6 GDF6 BMP4
26 intraocular pressure quantitative trait locus 9.5 PAX6 BMP4
27 microphthalmia 9.4 RAX PAX6 GDF6 BMP4
28 colobomatous microphthalmia 9.4 RAX PAX6 GDF6 BMP4
29 coloboma of macula 9.4 RAX PAX6 GDF6 BMP4

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 6:



Diseases related to Microphthalmia, Syndromic 6

Symptoms & Phenotypes for Microphthalmia, Syndromic 6

Human phenotypes related to Microphthalmia, Syndromic 6:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anophthalmia 58 31 very rare (1%) Very frequent (99-80%) HP:0000528
2 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
3 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
4 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
5 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
6 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
7 microcornea 58 31 very rare (1%) Frequent (79-30%) HP:0000482
8 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
9 nystagmus 58 31 very rare (1%) Occasional (29-5%) HP:0000639
10 high palate 58 31 very rare (1%) Occasional (29-5%) HP:0000218
11 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
12 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
13 cryptorchidism 58 31 very rare (1%) Occasional (29-5%) HP:0000028
14 myopia 58 31 very rare (1%) Occasional (29-5%) HP:0000545
15 sclerocornea 58 31 very rare (1%) Occasional (29-5%) HP:0000647
16 finger syndactyly 58 31 very rare (1%) Occasional (29-5%) HP:0006101
17 proximal placement of thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009623
18 nail dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002164
19 postaxial foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001830
20 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
21 retinal dystrophy 58 31 very rare (1%) Occasional (29-5%) HP:0000556
22 inferior vermis hypoplasia 58 31 very rare (1%) Occasional (29-5%) HP:0007068
23 seizure 31 occasional (7.5%) HP:0001250
24 failure to thrive 31 very rare (1%) HP:0001508
25 hypothyroidism 31 very rare (1%) HP:0000821
26 hearing impairment 31 very rare (1%) HP:0000365
27 blindness 31 very rare (1%) HP:0000618
28 brachycephaly 31 very rare (1%) HP:0000248
29 absent speech 31 very rare (1%) HP:0001344
30 cleft palate 31 very rare (1%) HP:0000175
31 retrognathia 31 very rare (1%) HP:0000278
32 micrognathia 31 very rare (1%) HP:0000347
33 low-set ears 31 very rare (1%) HP:0000369
34 anterior hypopituitarism 31 very rare (1%) HP:0000830
35 cerebral cortical atrophy 31 very rare (1%) HP:0002120
36 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
37 micropenis 31 very rare (1%) HP:0000054
38 bifid scrotum 31 very rare (1%) HP:0000048
39 facial asymmetry 31 very rare (1%) HP:0000324
40 protruding ear 31 very rare (1%) HP:0000411
41 ventriculomegaly 31 very rare (1%) HP:0002119
42 hypospadias 31 very rare (1%) HP:0000047
43 renal hypoplasia 31 very rare (1%) HP:0000089
44 preaxial hand polydactyly 31 very rare (1%) HP:0001177
45 cerebellar hypoplasia 31 very rare (1%) HP:0001321
46 aplasia/hypoplasia of the corpus callosum 31 very rare (1%) HP:0007370
47 plagiocephaly 31 very rare (1%) HP:0001357
48 abnormality of the cervical spine 31 very rare (1%) HP:0003319
49 posteriorly rotated ears 31 very rare (1%) HP:0000358
50 adrenal hypoplasia 31 very rare (1%) HP:0000835

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
brachycephaly
plagiocephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears
large ears
fleshy ears
flat ears
more
Genitourinary External Genitalia Male:
micropenis
bifid scrotum
hypospadias
small scrotum
hypoplastic foreskin

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

Skeletal Feet:
syndactyly

Genitourinary External Genitalia Female:
underdeveloped genitalia

Skeletal Skull:
craniosynostosis, lambdoid

Head And Neck Mouth:
cleft palate
bifid uvula
high-arched palate
small tongue

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

Skeletal Hands:
brachydactyly
clinodactyly
syndactyly
preaxial polydactyly
single palmar crease
more
Head And Neck Eyes:
microphthalmia
anophthalmia, clinical
anophthalmia, true

Endocrine Features:
hypopituitarism
pituitary anomalies
hypothyroidism, secondary

Genitourinary Kidneys:
hypoplastic kidneys
hypoplastic adrenal glands

Genitourinary Internal Genitalia Female:
absent uterine horn

Skeletal Spine:
cervical vertebral anomalies

Clinical features from OMIM®:

607932 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Microphthalmia, Syndromic 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 BMP4 GDF6 PAX6 RAX

Drugs & Therapeutics for Microphthalmia, Syndromic 6

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

Cochrane evidence based reviews: microphthalmia, syndromic 6

Genetic Tests for Microphthalmia, Syndromic 6

Genetic tests related to Microphthalmia, Syndromic 6:

# Genetic test Affiliating Genes
1 Microphthalmia with Brain and Digit Anomalies 29 BMP4

Anatomical Context for Microphthalmia, Syndromic 6

MalaCards organs/tissues related to Microphthalmia, Syndromic 6:

40
Eye, Brain, Pituitary, Hypothalamus, Cerebellum, Tongue, Skin

Publications for Microphthalmia, Syndromic 6

Articles related to Microphthalmia, Syndromic 6:

(show all 15)
# Title Authors PMID Year
1
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 57 6
21340693 2011
2
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. 57 6
18252212 2008
3
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. 6
19249007 2009
4
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. 57
16835935 2006
5
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
6
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57
15389708 2005
7
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. 57
15505031 2004
8
14q(22) deletion in a familial case of anophthalmia with polydactyly. 57
12794703 2003
9
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
10
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. 57
10512683 1999
11
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. 57
9605291 1998
12
Anophthalmia with cleft palate and micrognathia: a new syndrome? 57
7891380 1994
13
A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities. 57
7682620 1993
14
Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. 57
1856837 1991
15
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 61
31053785 2019

Variations for Microphthalmia, Syndromic 6

ClinVar genetic disease variations for Microphthalmia, Syndromic 6:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMP4 BMP4, 2-BP DEL, 226AG Deletion Pathogenic 17700 GRCh37:
GRCh38:
2 BMP4 NM_001202.6(BMP4):c.278A>G (p.Glu93Gly) SNV Pathogenic 17701 rs121912765 GRCh37: 14:54418663-54418663
GRCh38: 14:53951945-53951945
3 BMP4 BMP4, DEL Deletion Pathogenic 29615 GRCh37:
GRCh38:
4 BMP4 NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) SNV Pathogenic 29616 rs387906597 GRCh37: 14:54417385-54417385
GRCh38: 14:53950667-53950667
5 BMP4 BMP4, 1-BP DUP, 171C Duplication Pathogenic 29617 GRCh37:
GRCh38:
6 BMP4 NM_001202.6(BMP4):c.362A>G (p.His121Arg) SNV Pathogenic 29618 rs376960358 GRCh37: 14:54418579-54418579
GRCh38: 14:53951861-53951861
7 BMP4 NM_001202.6(BMP4):c.751C>T (p.His251Tyr) SNV Uncertain significance 225304 rs200671094 GRCh37: 14:54417226-54417226
GRCh38: 14:53950508-53950508
8 BMP4 NM_001202.6(BMP4):c.361C>T (p.His121Tyr) SNV Uncertain significance 536258 rs754308298 GRCh37: 14:54418580-54418580
GRCh38: 14:53951862-53951862
9 BMP4 NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs) Indel Uncertain significance 965809 GRCh37: 14:54417098-54417112
GRCh38: 14:53950380-53950394
10 BMP4 NM_001202.6(BMP4):c.426T>A (p.Phe142Leu) SNV Uncertain significance 971910 GRCh37: 14:54417551-54417551
GRCh38: 14:53950833-53950833
11 BMP4 NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) SNV Uncertain significance 1006001 GRCh37: 14:54417042-54417042
GRCh38: 14:53950324-53950324
12 BMP4 NM_001202.6(BMP4):c.857G>A (p.Arg286Gln) SNV Uncertain significance 1022631 GRCh37: 14:54417120-54417120
GRCh38: 14:53950402-53950402
13 BMP4 NM_001202.6(BMP4):c.124G>C (p.Ala42Pro) SNV Likely benign 881629 GRCh37: 14:54418817-54418817
GRCh38: 14:53952099-53952099
14 BMP4 NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) SNV Likely benign 497489 rs140590144 GRCh37: 14:54417301-54417301
GRCh38: 14:53950583-53950583
15 BMP4 NM_001202.6(BMP4):c.*31T>A SNV Likely benign 881587 GRCh37: 14:54416719-54416719
GRCh38: 14:53950001-53950001
16 BMP4 NM_001202.6(BMP4):c.362A>G (p.His121Arg) SNV Likely benign 29618 rs376960358 GRCh37: 14:54418579-54418579
GRCh38: 14:53951861-53951861
17 BMP4 NM_001202.6(BMP4):c.215A>G (p.Gln72Arg) SNV Likely benign 313354 rs771047931 GRCh37: 14:54418726-54418726
GRCh38: 14:53952008-53952008
18 BMP4 NM_001202.6(BMP4):c.93G>C (p.Gly31=) SNV Likely benign 721286 rs375563326 GRCh37: 14:54418848-54418848
GRCh38: 14:53952130-53952130
19 BMP4 NM_001202.6(BMP4):c.502G>C (p.Gly168Arg) SNV Likely benign 725943 rs373924774 GRCh37: 14:54417475-54417475
GRCh38: 14:53950757-53950757
20 BMP4 NM_001202.6(BMP4):c.394A>G (p.Thr132Ala) SNV Likely benign 727630 rs199935719 GRCh37: 14:54417583-54417583
GRCh38: 14:53950865-53950865
21 BMP4 NM_001202.6(BMP4):c.315G>A (p.Glu105=) SNV Likely benign 748583 rs774069849 GRCh37: 14:54418626-54418626
GRCh38: 14:53951908-53951908
22 BMP4 NM_001202.6(BMP4):c.345C>T (p.Asn115=) SNV Likely benign 767320 rs143687498 GRCh37: 14:54418596-54418596
GRCh38: 14:53951878-53951878
23 BMP4 NM_001202.6(BMP4):c.305C>T (p.Thr102Ile) SNV Likely benign 883532 GRCh37: 14:54418636-54418636
GRCh38: 14:53951918-53951918
24 BMP4 NM_001202.6(BMP4):c.860G>A (p.Arg287His) SNV Benign/Likely benign 17704 rs121912768 GRCh37: 14:54417117-54417117
GRCh38: 14:53950399-53950399
25 BMP4 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) SNV Benign/Likely benign 197190 rs17563 GRCh37: 14:54417522-54417522
GRCh38: 14:53950804-53950804
26 BMP4 NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) SNV Benign 17703 rs121912767 GRCh37: 14:54418669-54418669
GRCh38: 14:53951951-53951951
27 BMP4 NM_001202.6(BMP4):c.228T>A (p.Ser76Arg) SNV Benign 707581 rs114957446 GRCh37: 14:54418713-54418713
GRCh38: 14:53951995-53951995
28 BMP4 NM_001202.6(BMP4):c.*28A>T SNV Benign 881588 GRCh37: 14:54416722-54416722
GRCh38: 14:53950004-53950004
29 BMP4 NM_001202.6(BMP4):c.860G>A (p.Arg287His) SNV Benign 17704 rs121912768 GRCh37: 14:54417117-54417117
GRCh38: 14:53950399-53950399
30 BMP4 NM_001202.6(BMP4):c.228T>A (p.Ser76Arg) SNV Benign 707581 rs114957446 GRCh37: 14:54418713-54418713
GRCh38: 14:53951995-53951995
31 BMP4 NM_001202.6(BMP4):c.673A>G (p.Thr225Ala) SNV Benign 882740 GRCh37: 14:54417304-54417304
GRCh38: 14:53950586-53950586
32 LOC109433677 , BMP4 NM_001202.6(BMP4):c.-155G>A SNV Benign 881630 GRCh37: 14:54423290-54423290
GRCh38: 14:53956572-53956572
33 BMP4 NM_001202.6(BMP4):c.76T>C (p.Leu26=) SNV Benign 468357 rs74486266 GRCh37: 14:54418865-54418865
GRCh38: 14:53952147-53952147
34 BMP4 NM_001202.6(BMP4):c.345C>T (p.Asn115=) SNV Benign 767320 rs143687498 GRCh37: 14:54418596-54418596
GRCh38: 14:53951878-53951878
35 BMP4 NM_001202.6(BMP4):c.*88C>T SNV Benign 313349 rs74054236 GRCh37: 14:54416662-54416662
GRCh38: 14:53949944-53949944
36 BMP4 NM_001202.6(BMP4):c.76T>C (p.Leu26=) SNV Benign 468357 rs74486266 GRCh37: 14:54418865-54418865
GRCh38: 14:53952147-53952147
37 LOC109433677 , BMP4 NM_001202.6(BMP4):c.-146T>C SNV Benign 313355 rs73267467 GRCh37: 14:54423281-54423281
GRCh38: 14:53956563-53956563
38 BMP4 NM_001202.6(BMP4):c.*148A>T SNV Benign 313346 rs76335800 GRCh37: 14:54416602-54416602
GRCh38: 14:53949884-53949884
39 BMP4 NM_001202.6(BMP4):c.*251C>T SNV Benign 313336 rs573118445 GRCh37: 14:54416499-54416499
GRCh38: 14:53949781-53949781

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

72
# Symbol AA change Variation ID SNP ID
1 BMP4 p.Glu93Gly VAR_043532 rs121912765

Expression for Microphthalmia, Syndromic 6

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

Pathways for Microphthalmia, Syndromic 6

Pathways related to Microphthalmia, Syndromic 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 GDF6 BMP8A BMP4
2
Show member pathways
11.75 PAX6 GDF6 BMP8A BMP4
3
Show member pathways
11.71 GDF6 BMP8A BMP4
4 11.45 GDF7 GDF6 BMP8A BMP4
5 11.33 PAX6 BMP4
6 11.12 GDF6 BMP8A BMP4
7 11.09 PAX6 BMP4
8 10.9 GDF7 GDF6 BMP8A BMP4
9 10.54 GDF6 BMP8A BMP4

GO Terms for Microphthalmia, Syndromic 6

Biological processes related to Microphthalmia, Syndromic 6 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.78 PAX6 GDF7 GDF6 BMP4
2 multicellular organism development GO:0007275 9.77 RAX PAX6 GDF6 BMP8A BMP4
3 positive regulation of gene expression GO:0010628 9.75 PAX6 GDF7 BMP4
4 ossification GO:0001503 9.59 BMP8A BMP4
5 positive regulation of neuron differentiation GO:0045666 9.58 GDF7 BMP4
6 cartilage development GO:0051216 9.57 BMP8A BMP4
7 forebrain development GO:0030900 9.56 PAX6 BMP4
8 negative regulation of epithelial cell proliferation GO:0050680 9.55 PAX6 BMP4
9 blood vessel development GO:0001568 9.54 PAX6 BMP4
10 pituitary gland development GO:0021983 9.52 PAX6 BMP4
11 neuron fate commitment GO:0048663 9.51 PAX6 BMP4
12 cell fate commitment GO:0045165 9.5 PAX6 GDF7 BMP4
13 branching morphogenesis of an epithelial tube GO:0048754 9.49 GDF7 BMP4
14 activin receptor signaling pathway GO:0032924 9.46 GDF7 GDF6
15 BMP signaling pathway GO:0030509 9.46 GDF7 GDF6 BMP8A BMP4
16 pathway-restricted SMAD protein phosphorylation GO:0060389 9.43 GDF7 GDF6
17 camera-type eye development GO:0043010 9.43 RAX PAX6 BMP4
18 telencephalon regionalization GO:0021978 9.4 PAX6 BMP4
19 SMAD protein signal transduction GO:0060395 9.26 GDF7 GDF6 BMP8A BMP4
20 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.92 GDF7 GDF6 BMP8A BMP4

Molecular functions related to Microphthalmia, Syndromic 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 GDF7 GDF6 BMP8A BMP4
2 BMP receptor binding GO:0070700 9.16 BMP8A BMP4
3 growth factor activity GO:0008083 8.92 GDF7 GDF6 BMP8A BMP4

Sources for Microphthalmia, Syndromic 6

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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