STAR
MCID: TSY002
MIFTS: 37

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare 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 58 76 74
Star Syndrome 58 54 60 76 38 30 13 6 41
Syndactyly with Renal and Anogenital Malformations 58 76
Star 58 76
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome 60
Toe Syndactyly, Telecanthus, Anogenital and Renal Malformations 54
Syndactyly, Telecanthus, Anogenital and Renal Malformations 54

Characteristics:

Orphanet epidemiological data:

60
syndactyly-telecanthus-anogenital and renal malformations syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked dominant

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


HPO:

33
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 : 54 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 short stature and clinodactyly of the 5th finger

UniProtKB/Swiss-Prot : 76 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 : 77 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 227)
# Related Disease Score Top Affiliating Genes
1 classic congenital lipoid adrenal hyperplasia due to star deficency 12.3
2 non-classic congenital lipoid adrenal hyperplasia due to star deficency 12.3
3 lipoid congenital adrenal hyperplasia 12.2
4 familial glucocorticoid deficiency 11.9
5 adrenal cortical carcinoma 11.5
6 hypoadrenocorticism, familial 11.2
7 adrenal hypoplasia, congenital 11.2
8 premature ovarian failure 1 11.2
9 leydig cell tumor 11.2
10 pseudohermaphroditism 11.2
11 adrenal carcinoma 11.2
12 choreoacanthocytosis 11.2
13 mcleod syndrome 11.2
14 astrocytoma 11.2
15 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 11.1
16 ovarian benign neoplasm 11.1
17 ovarian disease 11.1
18 46 xy gonadal dysgenesis 11.1
19 cholesterol ester storage disease 11.1
20 steroid inherited metabolic disorder 11.1
21 mixed germ cell-sex cord neoplasm 11.1
22 testicular leydig cell tumor 11.1
23 luteoma 11.1
24 williams-beuren syndrome 11.0
25 cataract 3, multiple types 11.0
26 ehrlichiosis 11.0
27 grade iii astrocytoma 11.0
28 glioma 11.0
29 autosomal dominant congenital stationary night blindness 11.0
30 autosomal recessive congenital stationary night blindness 11.0
31 whiplash 11.0
32 depression 10.4
33 neuroblastoma 10.2
34 major depressive disorder 10.2
35 breast cancer 10.1
36 muscular dystrophy, duchenne type 10.1
37 muscular dystrophy 10.1
38 neuroretinitis 10.0
39 rere-related disorders 10.0
40 schizophrenia 10.0
41 streptococcal group a invasive disease 10.0
42 polycystic ovary syndrome 9.9
43 atrial fibrillation 9.9
44 lyme disease 9.9
45 myopia 9.9
46 dementia 9.9
47 mental depression 9.9
48 epilepsy 9.9
49 tularemia 9.9
50 kidney disease 9.9

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:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
3 anal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002023
4 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
5 lop ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000394
6 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
7 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
8 ectopic kidney 60 33 frequent (33%) Frequent (79-30%) HP:0000086
9 horseshoe kidney 60 33 frequent (33%) Frequent (79-30%) HP:0000085
10 telecanthus 60 33 occasional (7.5%) Frequent (79-30%) HP:0000506
11 vesicoureteral reflux 60 33 frequent (33%) Frequent (79-30%) HP:0000076
12 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
13 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
14 renal agenesis 60 33 frequent (33%) Frequent (79-30%) HP:0000104
15 bicornuate uterus 60 33 frequent (33%) Frequent (79-30%) HP:0000813
16 labial hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000066
17 clitoral hypertrophy 33 frequent (33%) HP:0008665
18 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
19 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
20 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
21 pulmonary artery stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004415
22 hypoplasia of the radius 60 33 occasional (7.5%) Occasional (29-5%) HP:0002984
23 mitral atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011560
24 macular dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007754
25 aortic regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001659
26 syringomyelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003396
27 abnormality of the pinna 33 occasional (7.5%) HP:0000377
28 craniosynostosis 33 occasional (7.5%) HP:0001363
29 eyelid coloboma 33 occasional (7.5%) HP:0000625
30 low-set ears 33 very rare (1%) HP:0000369
31 intrauterine growth retardation 33 HP:0001511
32 bicuspid aortic valve 33 HP:0001647
33 broad nasal tip 33 HP:0000455
34 pelvic kidney 33 HP:0000125
35 abnormality of the cardiac septa 60 Frequent (79-30%)
36 spina bifida occulta 33 HP:0003298
37 peripheral pulmonary artery stenosis 33 HP:0004969
38 rectovaginal fistula 33 HP:0000143
39 cleft eyelid 60 Occasional (29-5%)
40 clitoromegaly 60 Frequent (79-30%)
41 anal stenosis 33 HP:0002025
42 retinal dystrophy 60 Occasional (29-5%)
43 narrow nose 33 HP:0000460
44 small for gestational age 33 HP:0001518
45 duane anomaly 33 HP:0009921

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CCNQ

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

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

42
Kidney, Eye, Spinal Cord, Bone, 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
STAR syndrome plus: The first description of a female patient with the lethal form. ( 29088509 )
2017
4
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. ( 26882209 )
2016
5
STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. ( 27104747 )
2016
6
STAR syndrome is part of the differential diagnosis of females with anorectal malformations. ( 25845904 )
2015
7
Lily's Story: STAR Syndrome. ( 26225595 )
2015

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 NM_152274.4(CCNQ): c.303dup (p.Asn102Terfs) duplication Pathogenic GRCh38 Chromosome X, 153594673: 153594673
2 CCNQ NM_152274.5(CCNQ): c.657+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 153592505: 153592505
3 CCNQ FAM58A, 40-KB DEL deletion Pathogenic
4 CCNQ FAM58A, 4249-BP DEL deletion Pathogenic
5 CCNQ NM_152274.5(CCNQ): c.657+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 152857963: 152857963
6 CCNQ NM_152274.4(CCNQ): c.303dup (p.Asn102Terfs) duplication Pathogenic GRCh37 Chromosome X, 152860131: 152860131
7 CCNQ NM_152274.4(CCNQ): c.658-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 152853913: 152853913
8 CCNQ NM_152274.4(CCNQ): c.658-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 153588455: 153588455

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
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9 Cosmic
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70 SNOMED-CT via HPO
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