STAR
MCID: TSY002
MIFTS: 56

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (STAR)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

MalaCards integrated aliases for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

Name: Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 57 11 73 43 71
Star Syndrome 57 11 19 58 73 12 75
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome 11 58 28 5 14
Syndactyly with Renal and Anogenital Malformations 57 11 73
Star 57 73
Toe Syndactyly, Telecanthus, Anogenital and Renal Malformations 19
Syndactyly, Telecanthus, Anogenital and Renal Malformations 19

Characteristics:


Inheritance:

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations: X-linked dominant 57
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome: X-linked dominant 58

Prevelance:

Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

GARD: 19 STAR syndrome is a very rare syndrome that affects many parts of the body. STAR is an acronym for the primary signs and symptoms of the syndrome: Syndactyly - webbed or conjoined fingers or toes (the toes are particularly affected in this syndrome). Telecanthus - increased distance between the inner corners of the eyes. Anogenital malformations - abnormal formation of the anus and/or genitals. Renal malformations. However, some people with STAR syndrome have had a variety of additional features affecting many parts of the body. STAR syndrome may be caused by a deletion affecting the FAM58A gene, also called the CCNQ gene. In some cases, other features may be due to larger deletions that involve other genes besides the FAM58A gene. Additional features that have been reported include other skeletal abnormalities, hearing loss, epilepsy, ocular abnormalities, syringomyelia, tethered spinal cord, and various other birth defects. Inheritance of STAR syndrome is X-linked dominant. The syndrome is thought to be lethal in male embryos; only females with STAR syndrome have been reported.

MalaCards based summary: Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations, also known as star syndrome, is related to lipoid congenital adrenal hyperplasia and polycystic ovary syndrome. An important gene associated with Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations is CCNQ (Cyclin Q), and among its related pathways/superpathways is GADD45 Pathway. Affiliated tissues include spinal cord, bone and kidney, and related phenotypes are short stature and anal atresia

UniProtKB/Swiss-Prot: 73 A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus.

Orphanet: 58 A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

Disease Ontology: 11 A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has material basis in heterozygous mutation in FAM58A on chromosome Xq28.

Wikipedia: 75 STAR syndrome is a rare X-linked dominant disorder. Its core features include toe syndactyly,... more...

More information from OMIM: 300707

Related Diseases for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Diseases related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 777)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 11.6
2 polycystic ovary syndrome 11.2
3 endometriosis 11.1
4 choreoacanthocytosis 11.0
5 mcleod syndrome 11.0
6 malignant astrocytoma 11.0
7 type 2 diabetes mellitus 11.0
8 hypoadrenocorticism, familial 11.0
9 adrenal hypoplasia, congenital 11.0
10 premature menopause 11.0
11 spotted fever 11.0
12 adrenal cortical carcinoma 11.0
13 leydig cell tumor 11.0
14 body mass index quantitative trait locus 11 11.0
15 alzheimer disease, familial, 1 11.0
16 hypogonadotropic hypogonadism 11.0
17 conn's syndrome 11.0
18 pseudohermaphroditism 11.0
19 smith-lemli-opitz syndrome 11.0
20 adrenal carcinoma 11.0
21 classic congenital lipoid adrenal hyperplasia due to star deficency 11.0
22 non-classic congenital lipoid adrenal hyperplasia due to star deficency 11.0
23 ehrlichiosis 11.0
24 glioma susceptibility 1 10.9
25 glioma 10.9
26 aplasia cutis congenita, nonsyndromic 10.9
27 williams-beuren syndrome 10.9
28 abetalipoproteinemia 10.9
29 cataract 3, multiple types 10.9
30 human granulocytic anaplasmosis 10.9
31 anaplastic astrocytoma 10.9
32 recurrent idiopathic neuroretinitis 10.9
33 familial glucocorticoid deficiency 10.9
34 46,xy sex reversal 2 10.9
35 disorder of sexual development 10.9
36 lipid metabolism disorder 10.9
37 cryptorchidism, unilateral or bilateral 10.9
38 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.9
39 46,xy sex reversal 10.9
40 corticosterone methyloxidase type i deficiency 10.8
41 premature ovarian failure 1 10.8
42 schizophrenia 14 10.8
43 leydig cell hypoplasia 10.8
44 adrenal cortical hypofunction 10.8
45 malignant secondary hypertension 10.8
46 steroid inherited metabolic disorder 10.8
47 amelogenesis imperfecta 10.8
48 adrenal cortex disease 10.8
49 luteoma 10.8
50 adrenal gland disease 10.8

Graphical network of the top 20 diseases related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:



Diseases related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations

Symptoms & Phenotypes for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Human phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

58 30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
2 anal atresia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002023
3 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
4 toe syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001770
5 lop ear 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000394
6 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
7 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
8 horseshoe kidney 58 30 Frequent (33%) Frequent (79-30%)
HP:0000085
9 ectopic kidney 58 30 Frequent (33%) Frequent (79-30%)
HP:0000086
10 labial hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000066
11 abnormal cardiac septum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001671
12 vesicoureteral reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0000076
13 thin upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000219
14 bulbous nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000414
15 telecanthus 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0000506
16 renal agenesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000104
17 bicornuate uterus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000813
18 clitoral hypertrophy 30 Frequent (33%) HP:0008665
19 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
20 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
21 eyelid coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000625
22 pulmonary artery stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004415
23 hypoplasia of the radius 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002984
24 mitral atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011560
25 aortic regurgitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001659
26 syringomyelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003396
27 macular dystrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007754
28 craniosynostosis 30 Occasional (7.5%) HP:0001363
29 abnormal pinna morphology 30 Occasional (7.5%) HP:0000377
30 low-set ears 30 Very rare (1%) HP:0000369
31 intrauterine growth retardation 30 HP:0001511
32 bicuspid aortic valve 30 HP:0001647
33 pelvic kidney 30 HP:0000125
34 broad forehead 30 HP:0000337
35 spina bifida occulta 30 HP:0003298
36 peripheral pulmonary artery stenosis 30 HP:0004969
37 clitoromegaly 58 Frequent (79-30%)
38 rectovaginal fistula 30 HP:0000143
39 anal stenosis 30 HP:0002025
40 retinal dystrophy 58 Occasional (29-5%)
41 small for gestational age 30 HP:0001518
42 broad nasal tip 30 HP:0000455
43 duane anomaly 30 HP:0009921
44 narrow nose 30 HP:0000460

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
bicuspid aortic valve
persistent foramen ovale
congenital heart disease (in some patients)

Head And Neck Eyes:
telecanthus
duane anomaly (in 1 patient)

Cardiovascular Vascular:
peripheral pulmonary artery stenosis

Abdomen Gastrointestinal:
rectovaginal fistula
anal stenosis

Head And Neck Nose:
broad nasal tip
narrow nose

Skeletal Hands:
fifth finger clinodactyly

Skeletal Skull:
craniosynostosis (in some patients)

Growth Other:
intrauterine growth retardation (iugr)

Head And Neck Face:
square broad forehead

Skeletal Spine:
spina bifida occulta (in 1 patient)
cervical vertebrae with bifid posterior arch (in 1 patient)

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Kidneys:
pelvic kidney
solitary kidney
hydronephrotic kidney

Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia

Genitourinary Internal Genitalia Female:
rectovaginal fistula
bicornuate uterus
duplicated vagina

Head And Neck Mouth:
thin upper lip

Growth Weight:
low birth weight

Head And Neck Ears:
dysplastic ears (in some patients)
lop ears (in some patients)
low-set ears (in some patients)

Growth Height:
short stature (adult height <3rd centile)

Genitourinary Bladder:
small unstable bladder

Skeletal Feet:
syndactyly of toes (not 2-3)
delta-shaped metatarsals
dysplastic ankle (in 1 patient)

Clinical features from OMIM®:

300707 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

25 (show all 44)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.74 CDK11A
2 Decreased viability GR00055-A-2 10.74 CDK11A
3 Decreased viability GR00106-A-0 10.74 CDK11B
4 Decreased viability GR00154-A 10.74 PKN2
5 Decreased viability GR00173-A 10.74 CDK11B CDK13
6 Decreased viability GR00221-A-1 10.74 CDK11A CDK11B
7 Decreased viability GR00221-A-2 10.74 CDK10 CDK11A CDK11B CDK19
8 Decreased viability GR00221-A-3 10.74 CDK10 CDK11B CDK19
9 Decreased viability GR00221-A-4 10.74 CDK11B CDK19 CDK13 PKN2
10 Decreased viability GR00240-S-1 10.74 CDK11A
11 Decreased viability GR00249-S 10.74 CDK10 CDK11A CDK19 CDK13
12 Decreased viability GR00301-A 10.74 CDK11B CDK13 PKN2
13 Decreased viability GR00342-S-3 10.74 CDK13
14 Decreased viability GR00386-A-1 10.74 CDK19
15 Decreased viability GR00402-S-2 10.74 CDK11A PKN2
16 no effect GR00402-S-1 10.18 ATP2B3 CCNC CCNG2 CCNH CCNL2 CCNO
17 no effect GR00402-S-2 10.18 ATP2B3 CCNC CCNG2 CCNH CCNL2 CCNO
18 Decreased substrate adherent cell growth GR00193-A-1 10.1 CDK10 CDK19 PKN2
19 Decreased substrate adherent cell growth GR00193-A-3 10.1 CDK11B
20 Decreased substrate adherent cell growth GR00193-A-4 10.1 CDK10 PKN2 CDK11B CDK13
21 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.93 SALL1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.93 SALL1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.93 CDK19
24 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.93 CDK13
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.93 CDK19
26 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.93 SALL1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.93 SALL1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.93 SALL1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.93 CDK19
30 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.93 SALL1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.93 CDK19
32 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.93 CDK11B
33 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.93 CDK13
34 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.93 CDK11B
35 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.93 CDK19
36 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.93 CDK19
37 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.93 CDK13
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.93 CDK11B
39 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.93 SALL1
40 Increased viability with 4OH tamoxifen GR00200-A 9.43 CDK10 CDK11A CDK11B
41 Increased cell migration GR00055-A-1 9.37 CDK13
42 Increased cell migration GR00055-A-3 9.37 CDK13
43 Increased homologous recombination repair frequency GR00236-A-1 9.16 ZDHHC9
44 Increased homologous recombination repair frequency GR00236-A-2 9.16 ZDHHC9

MGI Mouse Phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 CCNC CCNO CCNQ CDK10 CDK13 CDK19
2 embryo MP:0005380 9.61 CCNC CCNQ CDK11A CDK11B CDK13 ETS2
3 mortality/aging MP:0010768 9.44 CCNC CCNO CCNQ CDK10 CDK11A CDK11B

Drugs & Therapeutics for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Search Clinical Trials, NIH Clinical Center for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations

Cochrane evidence based reviews: toe syndactyly, telecanthus, and anogenital and renal malformations

Genetic Tests for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Genetic tests related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

# Genetic test Affiliating Genes
1 Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome 28 CCNQ

Anatomical Context for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Organs/tissues related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

MalaCards : Spinal Cord, Bone, Kidney, Uterus, Testis, Heart, Ovary

Publications for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Articles related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

(show top 50) (show all 21423)
# Title Authors PMID Year
1
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. 62 57 5
18297069 2008
2
An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. 57 5
8818947 1996
3
STAR syndrome: a further case and the first report of maternal mosaicism. 62 57
28225384 2017
4
Comparison of real-world treatment outcomes of systemic immunomodulating therapy in atopic dermatitis patients with dark and light skin types. 62
36387062 2023
5
Rapid and sensitive determination of lactoferrin in milk powder by boronate affinity amplified dynamic light scattering immunosensor. 62
36435106 2023
6
Effect of porosity on mechanical and biological properties of bioprinted scaffolds. 62
36205372 2023
7
Sinapic and ferulic acid phenethyl esters increase the expression of steroidogenic genes in MA-10 tumor Leydig cells. 62
36279966 2023
8
Ultrasensitive hydrogel grating detector for real-time continuous-flow detection of trace threat Pb2. 62
36345059 2023
9
Enzymatic co-crosslinking of star-shaped poly(ethylene glycol) tyramine and hyaluronic acid tyramine conjugates provides elastic biocompatible and biodegradable hydrogels. 62
35633871 2023
10
County-level surveillance for the lone star tick, Amblyomma americanum, and its associated pathogen, Ehrlichia chaffeensis, in Kentucky. 62
36379171 2023
11
Antibacterial mechanisms of star anise essential oil microcapsules encapsulated by rice protein-depolymerized pectin electrostatic complexation and its application in crab meatballs. 62
36274385 2023
12
Engineering of ion permeable planar membranes and polymersomes based on β-cyclodextrin-cored star copolymers. 62
36265347 2023
13
Predicting relapse from the time to remission during the acute treatment of depression: A re-analysis of the STAR*D data. 62
36208688 2023
14
Enhancing the expression of multi-antigen chimeric TGAGS/BST protein from Toxoplasma gondii in Escherichia coli BL 21 Star during batch cultivation. 62
36115640 2023
15
Synergistic effect of standardized extract of Asparagus officinalis stem and heat shock on progesterone synthesis with lipid droplets and mitochondrial function in bovine granulosa cells. 62
36150639 2023
16
Measuring Equity in the Hospital Setting: An HCAHPS Application of the Health Equity Summary Score. 62
36038518 2023
17
Unhatched bovine blastocysts express all transcripts of the estrogen biosynthetic pathway, but steroid hormone synthesis could not yet be demonstrated. 62
36279747 2023
18
Encapsulation of different spice essential oils in quinoa protein isolate-gum Arabic coacervates for improved stability. 62
36372509 2023
19
Multi-omics responses in tree swallow (Tachycineta bicolor) nestlings from the Maumee Area of Concern, Maumee River, Ohio. 62
36183771 2023
20
In-situ assembling 0D/2D Z-scheme heterojunction of Lead-free Cs2AgBiBr6/Bi2WO6 for enhanced photocatalytic CO2 reduction. 62
36081204 2023
21
Pathogen diversity in meta-population networks. 62
36467017 2023
22
Impacts of the COVID-19 pandemic on the child care sector: Evidence from North Carolina. 62
35999900 2023
23
Dataset for transcriptomic, H3K9ac and H3K9me3 profiles during cardiac regeneration. 62
36131949 2022
24
Image quality improvement and motion degradation reduction in shoulder MR imaging: comparison of BLADE and rectilinear techniques at 3-Tesla scanning. 62
35751690 2022
25
Cat scratch disease: What to do with the cat? 62
36147775 2022
26
De novo genome assembly and annotation of Holothuria scabra (Jaeger, 1833) from nanopore sequencing reads. 62
36244041 2022
27
[Ronald D. Laing's "Radical Trip". Reflection on the Relationship Between Psychiatry, Anti-Psychiatry, and Science in the 1960s]. 62
36251038 2022
28
Expression of GnIH and its effects on follicle development and steroidogenesis in quail ovaries under different photoperiods. 62
36334429 2022
29
Dataset on genetic variation and trait association in cheeseweed (Malva parviflora L.) genotypes for agronomic traits. 62
36426013 2022
30
Organocatalytic Ring-Opening Polymerization of ε-Caprolactone with Phosphoramidimidates (PADIs) as a Bifunctional Brønsted Acid Catalyst. 62
36453087 2022
31
Game-based health education to improve ART adherence of newly diagnosed young people with HIV: protocol for a stepped-wedge design randomized controlled trial. 62
36460991 2022
32
Analysis of Polyethylene-Related Revisions After Total Ankle Replacements Reported in US Food and Drug Administration Medical Device Adverse Event Database. 62
36461676 2022
33
Gelation Kinetics and Mechanical Properties of Thiol-Tetrazole Methylsulfone Hydrogels Designed for Cell Encapsulation. 62
36457236 2022
34
Asprosin promotes steroidogenesis and spermatogenesis with improved glucose metabolism in adult mice testis. 62
36056803 2022
35
Liquid water on cold exo-Earths via basal melting of ice sheets. 62
36473880 2022
36
Orbital Hybridization-Driven Charge Density Wave Transition in CsV3 Sb5 Kagome Superconductor. 62
36468620 2022
37
Association between real-time strategy video game learning outcomes and pre-training brain white matter structure: preliminary study. 62
36456870 2022
38
Effects of balance training on dynamic postural stability in patients with chronic ankle instability: systematic review and meta-analysis of randomized controlled trials. 62
35333029 2022
39
Structures, biosynthesis, and bioactivities of prodiginine natural products. 62
36319792 2022
40
Inhibiting the expression of STARD3 induced apoptosis via the inactivation of PI3K/AKT/mTOR pathway on ER+ breast cancer. 62
36375355 2022
41
Microscopic revelation of the solid-gas coupling and Knudsen effect on the thermal conductivity of silica aerogel with inter-connected pores. 62
36470925 2022
42
A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. 62
36186954 2022
43
The characterization and expression analysis under stress conditions of PCST1 in Arabidopsis. 62
36281762 2022
44
The impact of changing toward higher welfare broiler production systems on greenhouse gas emissions: a Dutch case study using life cycle assessment. 62
36279609 2022
45
Alleviating effects of selenium on fluoride-induced testosterone synthesis disorder and reproduction toxicity in rats. 62
36323150 2022
46
Molecular diversity, haplotype distribution and genetic variation flow of Bipolaris sorokiniana fungus causing spot blotch disease in different wheat-growing zones. 62
35931929 2022
47
Seed extract of Thai Mucuna pruriens reduced male reproductive damage in rats induced by chronic stress. 62
35180038 2022
48
GC-MS metabolites profiling of anethole-rich oils by different extraction techniques: antioxidant, cytotoxicity and in-silico enzymes inhibitory insights. 62
35850583 2022
49
The clinical implications of pre-liver transplant diabetes on post-liver transplant outcomes in patients with NASH: analysis of the UNOS database. 62
36088499 2022
50
Dissemination and genome analysis of high-level ceftriaxone-resistant penA 60.001 Neisseria gonorrhoeae strains from the Guangdong Gonococcal antibiotics susceptibility Programme (GD-GASP), 2016-2019. 62
34994305 2022

Variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

ClinVar genetic disease variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 3 genes NC_000023.11:g.153595512_153635582del DEL Pathogenic
10671 GRCh37:
GRCh38: X:153595512-153635582
2 CCNQ NC_000023.11:g.153585471_153589719del DEL Pathogenic
10672 GRCh37: X:152850928-152855176
GRCh38: X:153585470-153589718
3 CCNQ NM_152274.5(CCNQ):c.658-1G>A SNV Pathogenic
10675 rs63749972 GRCh37: X:152853913-152853913
GRCh38: X:153588455-153588455
4 CCNQ NM_152274.5(CCNQ):c.303dup (p.Asn102Ter) DUP Pathogenic
10674 rs1569536891 GRCh37: X:152860130-152860131
GRCh38: X:153594672-153594673
5 CCNQ NM_152274.5(CCNQ):c.657+1G>A SNV Pathogenic
10673 rs1569536789 GRCh37: X:152857963-152857963
GRCh38: X:153592505-153592505
6 CCNQ NM_152274.5(CCNQ):c.651G>A (p.Trp217Ter) SNV Likely Pathogenic
1684282 GRCh37: X:152857970-152857970
GRCh38: X:153592512-153592512

Copy number variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 264713 X 69637575 69638673 Deletion ATP2B3 STAR syndrome
2 264715 X 69637575 69638673 Deletion CCNQ STAR syndrome

Expression for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Search GEO for disease gene expression data for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations.

Pathways for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Pathways related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.13 CDK10 CCNC

GO Terms for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Cellular components related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein kinase holoenzyme complex GO:0000307 9.44 CDK13 CCNQ CCNO CCNL2 CCNH CCNG2

Biological processes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 10.1 PKN2 CDK19 CDK13 CDK11B CDK11A CDK10
2 regulation of mitotic cell cycle GO:0007346 9.85 CDK11B CDK11A CDK10
3 regulation of mRNA processing GO:0050684 9.71 CDK11B CDK11A
4 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.63 CCNG2 CCNH CCNO
5 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.56 CDK13 CCNH
6 cell cycle GO:0007049 9.56 PKN2 CDK11B CDK11A CCNO CCNH CCNG2
7 phosphorylation GO:0016310 9.1 PKN2 CDK19 CDK13 CDK11B CDK11A CDK10

Molecular functions related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 10.07 PKN2 CDK19 CDK13 CDK11B CDK11A CDK10
2 nucleotide binding GO:0000166 10 PKN2 CDK19 CDK13 CDK11B CDK11A CDK10
3 transferase activity GO:0016740 9.98 ZDHHC9 PKN2 CDK19 CDK13 CDK11B CDK11A
4 protein kinase activity GO:0004672 9.96 CDK10 CDK11A CDK11B CDK13 CDK19 PKN2
5 protein serine kinase activity GO:0106310 9.93 PKN2 CDK19 CDK13 CDK11B CDK11A CDK10
6 kinase activity GO:0016301 9.87 PKN2 CDK19 CDK13 CDK11B CDK11A CDK10
7 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.65 CDK19 CDK13 CDK11B CDK11A CDK10
8 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.58 CDK19 CDK13
9 cyclin-dependent protein serine/threonine kinase regulator activity GO:0016538 9.4 CCNQ CCNO CCNL2 CCNH CCNG2 CCNC

Sources for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
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50 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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