FRASRS1
MCID: FRS014
MIFTS: 55

Fraser Syndrome 1 (FRASRS1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Fraser Syndrome 1

MalaCards integrated aliases for Fraser Syndrome 1:

Name: Fraser Syndrome 1 57 74
Fraser Syndrome 57 12 75 53 25 59 37 13 55 44 15 40
Cryptophthalmos Syndrome 53 25 29 6 72
Cryptophthalmos with Other Malformations 57 12 53 25
Cryptophthalmos-Syndactyly Syndrome 57 53 59
Fraser-Francois Syndrome 53 25
Frasrs1 57 74
Cryptophthalmos Syndactyly Syndrome 25
Meyer-Schwickerath's Syndrome 53
Meyer-Schwickerath Syndrome 25
Ullrich-Feichtiger Syndrome 25
Ulrich-Feichtiger Syndrome 53
Fraser's Syndrome 25
Cyclopism 53

Characteristics:

Orphanet epidemiological data:

59
fraser syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Spain); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
twenty-five percent of affected babies are stillborn
20% die before age one (usually secondary to renal or laryngeal defects)


HPO:

32
fraser syndrome 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090001
KEGG 37 H00687
MeSH 44 D058497
ICD10 33 Q87.0
MESH via Orphanet 45 D058497
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C0265233
Orphanet 59 ORPHA2052
UMLS 72 C0265233

Summaries for Fraser Syndrome 1

Genetics Home Reference : 25 Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood. Cryptophthalmos is the most common abnormality in people with Fraser syndrome. Both eyes are usually completely covered by skin, but in some cases, only one eye is covered or one or both eyes are partially covered. In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small (microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. Affected individuals can have other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair extending from the side hairline to the eyebrow. Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser syndrome. In most people with this feature, the skin between the middle three fingers and toes are fused, but the other digits can also be involved. Other abnormalities of the hands and feet can occur in people with Fraser syndrome. Individuals with Fraser syndrome can have abnormalities of the genitalia, such as an enlarged clitoris in females or undescended testes (cryptorchidism) in males. Some affected individuals have external genitalia that do not appear clearly female or male (ambiguous genitalia). The most common urinary tract abnormality in Fraser syndrome is the absence of one or both kidneys (renal agenesis). Affected individuals can have other kidney problems or abnormalities of the bladder and other parts of the urinary tract. A variety of other signs and symptoms can be involved in Fraser syndrome, including heart malformations or abnormalities of the voicebox (larynx) or other parts of the respiratory tract. Some affected individuals have facial abnormalities, including ear or nose abnormalities or an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).

MalaCards based summary : Fraser Syndrome 1, also known as fraser syndrome, is related to cakut and cryptophthalmos. An important gene associated with Fraser Syndrome 1 is FRAS1 (Fraser Extracellular Matrix Complex Subunit 1), and among its related pathways/superpathways is ECM proteoglycans. Affiliated tissues include kidney, skin and testes, and related phenotypes are finger syndactyly and blindness

Disease Ontology : 12 An autosomal recessive disease characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has material basis in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.

NIH Rare Diseases : 53 Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving the larynx (voice box) and trachea (windpipe); failure of kidney development affecting one or both kidneys (renal agenesis); umbilical hernia; abnormalities of the nose and ear; cleft lip and palate; skeletal abnormalities; and intellectual disability. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth. Less severely affected individuals can live into childhood or adulthood. Fraser syndrome is caused by mutations in three different genes: FRAS1, GRIP1, and FREM2 and is inherited in an autosomal recessive manner. This condition is diagnosed based on signs and symptoms. Genetic testing may be useful to confirm the diagnosis. While there is no cure for Fraser syndrome, there may be ways to manage symptoms, depending on the severity. A team of doctors is often needed to figure out the treatment options for each person.

OMIM : 57 Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). (219000)

KEGG : 37
Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.

UniProtKB/Swiss-Prot : 74 Fraser syndrome 1: A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.

Wikipedia : 75 Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-Francois syndrome, or... more...

Related Diseases for Fraser Syndrome 1

Diseases in the Fraser-Like Syndrome family:

Fraser Syndrome 1 Fraser Syndrome 2
Fraser Syndrome 3

Diseases related to Fraser Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 cakut 32.1 FREM2 FRAS1
2 cryptophthalmos 32.1 GRIP1 FREM2 FREM1 FRAS1
3 chromosome 2q35 duplication syndrome 31.2 GRIP1 FREM2 FRAS1
4 renal hypodysplasia/aplasia 1 28.4 ITGA8 GRIP1 FREM3 FREM2 FREM1 FRAS1
5 fraser syndrome 2 12.7
6 fraser syndrome 3 12.7
7 sanderson fraser syndrome 12.2
8 branchiootorenal syndrome 1 12.2
9 branchiootorenal syndrome 12.1
10 oculodentodigital dysplasia 11.6
11 vaginal atresia 11.5
12 bifid nose with or without anorectal and renal anomalies 11.5
13 gnathomiasis 11.3
14 branchiootorenal/branchiootic syndrome 11.2
15 chromosomal triplication 10.5
16 dwarfism 10.4
17 holoprosencephaly 10.4
18 microphthalmia 10.4
19 oligohydramnios 10.3
20 severe acute respiratory syndrome 10.3
21 cyanosis, transient neonatal 10.3
22 congenital subglottic stenosis 10.3
23 renal agenesis, bilateral 10.3
24 orofacial clefting syndrome 10.3
25 holoprosencephaly 1 10.2
26 patau syndrome 10.2
27 hypertelorism 10.2
28 ablepharon-macrostomia syndrome 10.2 FREM2 FRAS1
29 umbilical hernia 10.2
30 frem1 autosomal recessive disorders 10.2
31 hypospadias 10.1
32 holoprosencephaly 3 10.1
33 papillomatosis, confluent and reticulated 10.1
34 dracunculiasis 10.1
35 vasculitis 10.1
36 alobar holoprosencephaly 10.1
37 coloboma of macula 10.1
38 fraser-like syndrome 10.1
39 fryns microphthalmia syndrome 10.1
40 gingivitis 10.1
41 cleft lip 10.1
42 cryptophthalmia 10.1
43 microphthalmia, syndromic 9 10.0 STRA6 FREM2
44 renal hypodysplasia/aplasia 3 10.0 FREM2 FREM1 FRAS1
45 renal cell carcinoma, nonpapillary 10.0
46 polykaryocytosis inducer 10.0
47 neural tube defects 10.0
48 strabismus 10.0
49 williams-beuren syndrome 10.0
50 anencephaly 10.0

Graphical network of the top 20 diseases related to Fraser Syndrome 1:



Diseases related to Fraser Syndrome 1

Symptoms & Phenotypes for Fraser Syndrome 1

Human phenotypes related to Fraser Syndrome 1:

59 32 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
2 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
3 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
4 renal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000089
5 cryptophthalmos 59 32 hallmark (90%) Very frequent (99-80%) HP:0001126
6 lacrimal duct aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007925
7 malformed lacrimal duct 32 hallmark (90%) HP:0007993
8 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
9 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
10 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
11 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
12 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
13 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
14 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
15 anophthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000528
16 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
17 anal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002023
18 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
19 female pseudohermaphroditism 59 32 frequent (33%) Frequent (79-30%) HP:0010458
20 ambiguous genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000062
21 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
22 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
23 anal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002025
24 vaginal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000148
25 laryngeal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001602
26 wide pubic symphysis 59 32 frequent (33%) Frequent (79-30%) HP:0003183
27 bifid tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010297
28 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
29 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
30 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
31 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
32 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
33 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
34 underdeveloped nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000430
35 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
36 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
37 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
38 abnormal hair pattern 59 32 occasional (7.5%) Occasional (29-5%) HP:0010720
39 tracheal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002777
40 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
41 atresia of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000413
42 urethral atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000068
43 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
44 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
45 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
46 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
47 abnormal lung lobation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002101
48 bicornuate uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000813
49 myelomeningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002475
50 subglottic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001607

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
blindness
cryptophthalmos
absent or malformed lacrimal ducts

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Female:
bicornuate uterus
vaginal atresia

Skeletal Limbs:
syndactyly

Chest Breasts:
widely spaced nipples

Genitourinary External Genitalia Female:
clitoral enlargement

Head And Neck Nose:
hypoplastic, notched nares
broad, low nasal bridge
midline nasal cleavage

Abdomen External Features:
umbilical anomaly

Skeletal Pelvis:
diastasis of symphysis pubis

Neurologic Central Nervous System:
microcephaly
encephalocele
mental retardation
meningomyelocele

Genitourinary Internal Genitalia Male:
cryptorchidism
hypospadias

Respiratory Larynx:
laryngeal stenosis
laryngeal atresia

Head And Neck Ears:
conductive hearing loss
middle ear malformations
external ear malformations

Genitourinary External Genitalia Male:
small penis

Head And Neck Face:
unusual hairline with hair growth on temples extending to lateral eyebrow

Head And Neck Teeth:
teeth crowding

Genitourinary Kidneys:
renal agenesis/hypoplasia

Skin Nails Hair Hair:
unusual hairline

Clinical features from OMIM:

219000

MGI Mouse Phenotypes related to Fraser Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.7 FRAS1 FREM1 FREM2 GRIP1 HOXD11 ITGA8
2 limbs/digits/tail MP:0005371 9.65 FRAS1 FREM1 FREM2 GRIP1 HOXD11
3 skeleton MP:0005390 9.43 FRAS1 FREM1 FREM2 HOXD11 ITGA8 STRA6
4 vision/eye MP:0005391 9.02 FRAS1 FREM1 FREM2 GRIP1 STRA6

Drugs & Therapeutics for Fraser Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877

Search NIH Clinical Center for Fraser Syndrome 1

Cochrane evidence based reviews: fraser syndrome

Genetic Tests for Fraser Syndrome 1

Genetic tests related to Fraser Syndrome 1:

# Genetic test Affiliating Genes
1 Cryptophthalmos Syndrome 29 FRAS1

Anatomical Context for Fraser Syndrome 1

MalaCards organs/tissues related to Fraser Syndrome 1:

41
Kidney, Skin, Testes, Heart, Eye, Trachea, Tongue

Publications for Fraser Syndrome 1

Articles related to Fraser Syndrome 1:

(show top 50) (show all 197)
# Title Authors PMID Year
1
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. 38 8 71
17163535 2007
2
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. 38 8 71
16894541 2006
3
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. 38 8 71
12766769 2003
4
Molecular study of 33 families with Fraser syndrome new data and mutation review. 38 8
18671281 2008
5
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. 38 8
18000968 2007
6
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. 38 8
16880404 2006
7
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. 38 8
15838507 2005
8
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 38 8
14730302 2004
9
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. 38 8
12766770 2003
10
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. 38 8
12205104 2002
11
Fraser syndrome: diagnosed in a 50-year-old museum specimen. 38 8
10995515 2000
12
Fraser syndrome associated with anterior urethral atresia. 38 8
10051174 1999
13
Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome. 38 8
7747754 1994
14
A mouse model for Fraser syndrome? 38 8
8055142 1994
15
Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids. 38 8
7917132 1994
16
Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. 38 8
2175543 1990
17
Fraser syndrome with renal agenesis in two consanguineous Turkish families. 38 8
2389805 1990
18
Fraser syndrome and mouse 'bleb' mutants. 38 8
2166630 1990
19
Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. 38 8
2155726 1990
20
Fraser syndrome: prenatal ultrasonic detection. 38 8
2672816 1989
21
Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. 38 8
2851937 1988
22
The clinical spectrum of the Fraser syndrome: report of three new cases and review. 38 8
3118036 1987
23
Isolated and syndromic cryptophthalmos. 38 8
3099574 1986
24
Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis. 38 8
3920396 1985
25
Fraser syndrome presenting as bilateral renal agenesis in three sibs. 38 8
7143389 1982
26
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. 38 6
27859469 2016
27
Syndromic cryptophthalmos. 8
3142259 1988
28
Cryptophthalmos-syndactyly syndrome without cryptophthalmos. 8
3102131 1986
29
Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome. 8
3086530 1986
30
Cryptophthalmos--syndactyly syndrome without cryptophthalmos. 8
3091298 1986
31
Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. 8
6329562 1984
32
Cryptophthalmos syndrome with bilateral renal agenesis. 8
6264788 1981
33
Cryptophthalmos in two families from Bahia, Brazil. 8
4774831 1973
34
Multiple congenital abnormalities associated with cryptophthalmia. 8
4305611 1969
35
[Malformative syndrome with cryptophthalmos]. 8
5799332 1969
36
CRYPTOPHTHALMOS. 8
18170825 1962
37
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. 9 38
20419147 2010
38
Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice. 9 38
18563433 2008
39
Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy. 9 38
17990920 2008
40
Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. 9 38
18155042 2008
41
Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa. 9 38
17596926 2007
42
Ultrastructural localization of Fras1 in the sublamina densa of embryonic epithelial basement membranes. 9 38
17576586 2007
43
Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development. 9 38
17251066 2007
44
An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics. 38
30814501 2019
45
[Fraser syndrome: Case report]. 38
30446346 2018
46
Oral manifestations and rehabilitation in Fraser syndrome: A case report. 38
29873822 2018
47
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. 38
29688405 2018
48
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. 38
29618029 2018
49
Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review. 38
30364810 2018
50
Lacrimal Drainage Anomalies in Fraser Syndrome. 38
29303941 2018

Variations for Fraser Syndrome 1

ClinVar genetic disease variations for Fraser Syndrome 1:

6 (show top 50) (show all 584)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FRAS1 NM_025074.7(FRAS1): c.8602C> T (p.Gln2868Ter) single nucleotide variant Pathogenic rs120074156 4:79403116-79403116 4:78481962-78481962
2 FRAS1 NM_025074.7(FRAS1): c.9013C> T (p.Gln3005Ter) single nucleotide variant Pathogenic rs120074157 4:79418013-79418013 4:78496859-78496859
3 FRAS1 FRAS1, 1-BP INS, 5605T insertion Pathogenic
4 FRAS1 NM_025074.7(FRAS1): c.3799C> T (p.Gln1267Ter) single nucleotide variant Pathogenic rs120074158 4:79308679-79308679 4:78387525-78387525
5 FRAS1 NM_025074.7(FRAS1): c.4271C> G (p.Ser1424Ter) single nucleotide variant Pathogenic rs120074159 4:79328958-79328958 4:78407804-78407804
6 FRAS1 NM_025074.7(FRAS1): c.6963_6964dup (p.Val2322fs) duplication Pathogenic rs730882179 4:79385671-79385672 4:78464517-78464518
7 FRAS1 NM_025074.7(FRAS1): c.7522+1G> T single nucleotide variant Pathogenic rs730882180 4:79393485-79393485 4:78472331-78472331
8 FRAS1 NM_025074.7(FRAS1): c.5664_5665+19delinsT indel Pathogenic rs886037766 4:79362450-79362470 4:78441296-78441316
9 FRAS1 NM_025074.7(FRAS1): c.10287del (p.Leu3428_Tyr3429insTer) deletion Pathogenic rs886037765 4:79437065-79437065 4:78515911-78515911
10 FRAS1 NM_025074.7(FRAS1): c.11266_11269AACA[1] (p.Lys3757fs) short repeat Pathogenic 4:79458320-79458323 4:78537168-78537171
11 FRAS1 NM_025074.7(FRAS1): c.10820C> G (p.Ser3607Ter) single nucleotide variant Pathogenic 4:79447706-79447706 4:78526552-78526552
12 FRAS1 NM_025074.7(FRAS1): c.11897dup (p.Asn3967fs) duplication Pathogenic 4:79462136-79462136 4:78540982-78540982
13 FRAS1 NM_025074.7(FRAS1): c.516G> A (p.Trp172Ter) single nucleotide variant Pathogenic 4:79176442-79176442 4:78255288-78255288
14 FRAS1 NM_025074.7(FRAS1): c.2719C> T (p.Gln907Ter) single nucleotide variant Pathogenic/Likely pathogenic rs755750961 4:79285205-79285205 4:78364051-78364051
15 FRAS1 NM_025074.7(FRAS1): c.5370C> G (p.Tyr1790Ter) single nucleotide variant Likely pathogenic 4:79360059-79360059 4:78438905-78438905
16 FRAS1 NM_025074.7(FRAS1): c.2894G> T (p.Cys965Phe) single nucleotide variant Likely pathogenic 4:79293896-79293896 4:78372742-78372742
17 GRIP1 NM_021150.4(GRIP1): c.*1261dup duplication Conflicting interpretations of pathogenicity rs35499444 12:66741538-66741538 12:66347758-66347758
18 FREM2 NM_207361.6(FREM2): c.7335T> C (p.Gly2445=) single nucleotide variant Conflicting interpretations of pathogenicity rs141921562 13:39433543-39433543 13:38859406-38859406
19 FREM2 NM_207361.6(FREM2): c.2128C> T (p.Arg710Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41292753 13:39263609-39263609 13:38689472-38689472
20 FREM2 NM_207361.6(FREM2): c.84C> G (p.Pro28=) single nucleotide variant Conflicting interpretations of pathogenicity rs141718695 13:39261565-39261565 13:38687428-38687428
21 GRIP1 NM_021150.4(GRIP1): c.2450G> A (p.Arg817Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145115262 12:66773075-66773075 12:66379295-66379295
22 FRAS1 NM_025074.7(FRAS1): c.5046C> G (p.Asp1682Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35219594 4:79353587-79353587 4:78432433-78432433
23 FRAS1 NM_025074.7(FRAS1): c.9806G> A (p.Arg3269Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61729366 4:79432453-79432453 4:78511299-78511299
24 FRAS1 NM_025074.7(FRAS1): c.7551T> A (p.Tyr2517Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs745597204 4:79394620-79394620 4:78473466-78473466
25 FRAS1 NM_025074.7(FRAS1): c.11605A> G (p.Ile3869Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145035489 4:79461844-79461844 4:78540690-78540690
26 FRAS1 NM_025074.7(FRAS1): c.11718T> C (p.Ile3906=) single nucleotide variant Conflicting interpretations of pathogenicity rs142389362 4:79461957-79461957 4:78540803-78540803
27 FRAS1 NM_025074.7(FRAS1): c.10594A> G (p.Ile3532Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144715071 4:79442730-79442730 4:78521576-78521576
28 FRAS1 NM_025074.7(FRAS1): c.11724T> C (p.Ser3908=) single nucleotide variant Conflicting interpretations of pathogenicity rs151307846 4:79461963-79461963 4:78540809-78540809
29 FRAS1 NM_025074.7(FRAS1): c.10539A> G (p.Thr3513=) single nucleotide variant Conflicting interpretations of pathogenicity rs199921300 4:79440634-79440634 4:78519480-78519480
30 FRAS1 NM_025074.7(FRAS1): c.11907C> G (p.His3969Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140492803 4:79462146-79462146 4:78540992-78540992
31 GRIP1 NM_021150.4(GRIP1): c.692C> T (p.Ala231Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150958775 12:66909431-66909431 12:66515651-66515651
32 FREM2 NM_207361.6(FREM2): c.1188G> C (p.Gln396His) single nucleotide variant Conflicting interpretations of pathogenicity rs61997174 13:39262669-39262669 13:38688532-38688532
33 FRAS1 NM_025074.7(FRAS1): c.1635C> T (p.Ser545=) single nucleotide variant Conflicting interpretations of pathogenicity rs528765554 4:79229320-79229320 4:78308166-78308166
34 FRAS1 NM_025074.7(FRAS1): c.1710C> T (p.Pro570=) single nucleotide variant Uncertain significance rs17003124 4:79236779-79236779 4:78315625-78315625
35 FRAS1 NM_025074.7(FRAS1): c.6622C> T (p.Leu2208=) single nucleotide variant Uncertain significance rs373744776 4:79373367-79373367 4:78452213-78452213
36 FRAS1 NM_025074.7(FRAS1): c.6684G> A (p.Gln2228=) single nucleotide variant Uncertain significance rs759150629 4:79373429-79373429 4:78452275-78452275
37 FRAS1 NM_025074.7(FRAS1): c.6726G> A (p.Gln2242=) single nucleotide variant Uncertain significance rs761562615 4:79373471-79373471 4:78452317-78452317
38 FRAS1 NM_025074.7(FRAS1): c.6301C> T (p.His2101Tyr) single nucleotide variant Uncertain significance rs183398121 4:79371331-79371331 4:78450177-78450177
39 FRAS1 NM_025074.7(FRAS1): c.6932C> T (p.Ser2311Leu) single nucleotide variant Uncertain significance rs202092409 4:79385640-79385640 4:78464486-78464486
40 FRAS1 NM_025074.7(FRAS1): c.7029+9A> C single nucleotide variant Uncertain significance rs188606284 4:79385746-79385746 4:78464592-78464592
41 FRAS1 NM_025074.7(FRAS1): c.2328C> T (p.Cys776=) single nucleotide variant Uncertain significance rs776037240 4:79258877-79258877 4:78337723-78337723
42 FRAS1 NM_025074.7(FRAS1): c.1609G> A (p.Val537Met) single nucleotide variant Uncertain significance rs367598897 4:79229294-79229294 4:78308140-78308140
43 FRAS1 NM_025074.7(FRAS1): c.2433C> T (p.His811=) single nucleotide variant Uncertain significance rs756276943 4:79284677-79284677 4:78363523-78363523
44 FRAS1 NM_025074.7(FRAS1): c.4160C> T (p.Ala1387Val) single nucleotide variant Uncertain significance rs201864889 4:79328847-79328847 4:78407693-78407693
45 FRAS1 NM_025074.7(FRAS1): c.4557G> A (p.Arg1519=) single nucleotide variant Uncertain significance rs773736914 4:79343033-79343033 4:78421879-78421879
46 FRAS1 NM_025074.7(FRAS1): c.4678+5T> C single nucleotide variant Uncertain significance rs76993002 4:79343159-79343159 4:78422005-78422005
47 FRAS1 NM_025074.7(FRAS1): c.5788A> G (p.Ile1930Val) single nucleotide variant Uncertain significance rs373432682 4:79366798-79366798 4:78445644-78445644
48 FRAS1 NM_025074.7(FRAS1): c.*122C> T single nucleotide variant Uncertain significance rs886059648 4:79462400-79462400 4:78541246-78541246
49 FRAS1 NM_025074.7(FRAS1): c.*460A> G single nucleotide variant Uncertain significance rs760216437 4:79462738-79462738 4:78541584-78541584
50 FRAS1 NM_025074.7(FRAS1): c.*2957T> A single nucleotide variant Uncertain significance rs553394027 4:79465235-79465235 4:78544081-78544081

Expression for Fraser Syndrome 1

Search GEO for disease gene expression data for Fraser Syndrome 1.

Pathways for Fraser Syndrome 1

Pathways related to Fraser Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.38 MATN4 ITGA8

GO Terms for Fraser Syndrome 1

Cellular components related to Fraser Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.46 NPNT HMCN1 FREM3 FRAS1
2 basement membrane GO:0005604 9.1 NPNT HMCN1 FREM3 FREM2 FREM1 FRAS1
3 integrin alpha8-beta1 complex GO:0034678 8.96 NPNT ITGA8

Biological processes related to Fraser Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.8 NPNT ITGA8 HOXD11 FREM2 FREM1
2 extracellular matrix organization GO:0030198 9.63 NPNT MATN4 ITGA8
3 cell adhesion GO:0007155 9.55 NPNT ITGA8 FREM3 FREM2 FREM1
4 branching involved in ureteric bud morphogenesis GO:0001658 9.49 NPNT HOXD11
5 establishment of protein localization GO:0045184 9.48 NPNT ITGA8
6 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.43 NPNT ITGA8
7 cell-matrix adhesion GO:0007160 9.43 NPNT ITGA8 FREM1
8 morphogenesis of an epithelium GO:0002009 9.37 FREM2 FRAS1
9 smooth muscle tissue development GO:0048745 9.32 STRA6 ITGA8
10 positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000721 8.96 NPNT ITGA8
11 cell communication GO:0007154 8.92 FREM3 FREM2 FREM1 FRAS1

Molecular functions related to Fraser Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 NPNT HMCN1 FRAS1

Sources for Fraser Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....