MCID: TSY002
MIFTS: 37

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Nephrological diseases

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 75 73
Star Syndrome 57 53 59 75 37 29 13 6 40
Syndactyly with Renal and Anogenital Malformations 57 75
Star 57 75
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome 59
Toe Syndactyly, Telecanthus, Anogenital and Renal Malformations 53
Syndactyly, Telecanthus, Anogenital and Renal Malformations 53

Characteristics:

Orphanet epidemiological data:

59
syndactyly-telecanthus-anogenital and renal malformations syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked dominant

Miscellaneous:
specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features


HPO:

32
toe syndactyly, telecanthus, and anogenital and renal malformations:
Inheritance x-linked dominant inheritance


Classifications:



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

NIH Rare Diseases : 53 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. - abnormal formation of the kidneys. 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 mutation or 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. Treatment depends on the specific features and severity in each person.

MalaCards based summary : Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations, also known as star syndrome, is related to classic congenital lipoid adrenal hyperplasia due to star deficency and non-classic congenital lipoid adrenal hyperplasia due to star deficency. An important gene associated with Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations is CCNQ (Cyclin Q). Affiliated tissues include kidney, eye and spinal cord, and related phenotypes are seizures and wide nasal bridge

UniProtKB/Swiss-Prot : 75 Toe syndactyly, telecanthus, and anogenital and renal malformations: 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.

Wikipedia : 76 STAR syndrome is a rare X-linked dominant disorder. Its core features include toe syndactyly,... more...

Description 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 131)
# Related Disease Score Top Affiliating Genes
1 classic congenital lipoid adrenal hyperplasia due to star deficency 12.1
2 non-classic congenital lipoid adrenal hyperplasia due to star deficency 12.1
3 lipoid congenital adrenal hyperplasia 12.0
4 familial glucocorticoid deficiency 11.7
5 adrenocortical carcinoma, hereditary 11.4
6 hypoadrenocorticism, familial 11.1
7 adrenal hypoplasia, congenital 11.1
8 premature ovarian failure 1 11.1
9 leydig cell tumor 11.1
10 adrenal carcinoma 11.1
11 choreoacanthocytosis 11.0
12 mcleod syndrome 11.0
13 astrocytoma 11.0
14 lysosomal acid lipase deficiency 11.0
15 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 11.0
16 46 xy gonadal dysgenesis 11.0
17 cholesterol ester storage disease 11.0
18 steroid inherited metabolic disorder 11.0
19 testicular leydig cell tumor 11.0
20 luteoma 11.0
21 williams-beuren syndrome 10.8
22 cataract 3, multiple types 10.8
23 ehrlichiosis 10.8
24 grade iii astrocytoma 10.8
25 glioma 10.8
26 autosomal dominant congenital stationary night blindness 10.8
27 autosomal recessive congenital stationary night blindness 10.8
28 whiplash 10.8
29 depression 10.3
30 neuroblastoma 10.0
31 major depressive disorder 10.0
32 aging 9.9
33 neuroretinitis 9.9
34 breast cancer 9.9
35 muscular dystrophy, duchenne type 9.9
36 muscular dystrophy 9.9
37 schizophrenia 9.8
38 dementia 9.8
39 retinitis 9.8
40 rheumatoid arthritis 9.8
41 ovarian cancer 1 9.8
42 endometrial cancer 9.8
43 arthritis 9.8
44 polycystic ovary syndrome 9.8
45 cat-scratch disease 9.8
46 retinal vasculitis 9.8
47 myopia 9.8
48 epilepsy 9.8
49 adrenal cortical adenocarcinoma 9.8
50 thyroiditis 9.8

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...

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
bicuspid aortic valve
persistent foramen ovale
congenital heart disease (in some patients)

Head And Neck Nose:
broad nasal tip
narrow nose

Genitourinary Kidneys:
pelvic kidney
solitary kidney
hydronephrotic kidney

Abdomen Gastrointestinal:
rectovaginal fistula
anal stenosis

Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia

Head And Neck Mouth:
thin upper lip

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)

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

Genitourinary Ureters:
vesicoureteral reflux

Cardiovascular Vascular:
peripheral pulmonary artery stenosis

Genitourinary Internal Genitalia Female:
rectovaginal fistula
bicornuate uterus
duplicated vagina

Skeletal Hands:
fifth finger clinodactyly

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

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

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
5 ectopic kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000086
6 horseshoe kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000085
7 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
8 telecanthus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000506
9 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
10 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
11 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
12 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
13 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
14 pulmonary artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004415
15 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
16 hypoplasia of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0002984
17 mitral atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011560
18 renal agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0000104
19 macular dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007754
20 bicornuate uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000813
21 aortic regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001659
22 labial hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000066
23 lop ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000394
24 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
25 intrauterine growth retardation 32 HP:0001511
26 bicuspid aortic valve 32 HP:0001647
27 abnormality of the pinna 32 occasional (7.5%) HP:0000377
28 broad nasal tip 32 HP:0000455
29 pelvic kidney 32 HP:0000125
30 abnormality of the cardiac septa 59 Frequent (79-30%)
31 peripheral pulmonary artery stenosis 32 HP:0004969
32 craniosynostosis 32 occasional (7.5%) HP:0001363
33 rectovaginal fistula 32 HP:0000143
34 cleft eyelid 59 Occasional (29-5%)
35 clitoromegaly 59 Frequent (79-30%)
36 anal stenosis 32 HP:0002025
37 retinal dystrophy 59 Occasional (29-5%)
38 narrow nose 32 HP:0000460
39 small for gestational age 32 HP:0001518
40 clitoral hypertrophy 32 frequent (33%) HP:0008665
41 eyelid coloboma 32 occasional (7.5%) HP:0000625
42 abnormal cardiac septum morphology 32 frequent (33%) HP:0001671

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

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 Star Syndrome 29 CCNQ

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

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

41
Kidney, Eye, Spinal Cord, Bone, Heart, Uterus

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

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

# Title Authors Year
1
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. ( 28322501 )
2017
2
STAR syndrome: a further case and the first report of maternal mosaicism. ( 28225384 )
2017
3
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. ( 26882209 )
2016
4
STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. ( 27104747 )
2016
5
STAR syndrome is part of the differential diagnosis of females with anorectal malformations. ( 25845904 )
2015
6
Lily's Story: STAR Syndrome. ( 26225595 )
2015
7
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. ( 24218572 )
2013

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCNQ FAM58A, 40-KB DEL deletion Pathogenic
2 CCNQ FAM58A, 4249-BP DEL deletion Pathogenic
3 CCNQ FAM58A, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
4 CCNQ FAM58A, 1-BP DUP, 201T duplication Pathogenic
5 CCNQ FAM58A, IVS4AS, G-A, -1 single nucleotide variant Pathogenic

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

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264713 X 69637575 69638673 Deletion ATP2B3 STAR syndrome
2 264715 X 69637575 69638673 Deletion FAM58A 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...

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

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

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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