FRASRS1
MCID: FRS014
MIFTS: 48

Fraser Syndrome 1 (FRASRS1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Fraser Syndrome 1

MalaCards integrated aliases for Fraser Syndrome 1:

Name: Fraser Syndrome 1 58 76
Fraser Syndrome 58 12 77 54 26 38 13 56 45 15 41
Cryptophthalmos Syndrome 54 26 30 6 74
Cryptophthalmos with Other Malformations 58 12 54 26
Cryptophthalmos-Syndactyly Syndrome 58 54
Fraser-Francois Syndrome 54 26
Frasrs1 58 76
Cryptophthalmos Syndactyly Syndrome 26
Meyer-Schwickerath's Syndrome 54
Meyer-Schwickerath Syndrome 26
Ullrich-Feichtiger Syndrome 26
Ulrich-Feichtiger Syndrome 54
Fraser's Syndrome 26
Cyclopism 54

Characteristics:

OMIM:

58
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:

33
fraser syndrome 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fraser Syndrome 1

NIH Rare Diseases : 54 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. 

MalaCards based summary : Fraser Syndrome 1, also known as fraser syndrome, is related to cryptophthalmos and chromosome 2q35 duplication syndrome. 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 skin, kidney and eye, 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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Fraser syndrome (also known as Meyer-Schwickerath''s syndrome, Fraser-François 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 all 38)
# Related Disease Score Top Affiliating Genes
1 cryptophthalmos 31.8 FRAS1 FREM1 FREM2 GRIP1
2 chromosome 2q35 duplication syndrome 30.2 FRAS1 FREM2 GRIP1
3 renal hypodysplasia/aplasia 1 29.1 FRAS1 FREM1 FREM2 FREM3 GRIP1 ITGA8
4 fraser syndrome 2 12.6
5 fraser syndrome 3 12.6
6 sanderson fraser syndrome 12.1
7 branchiootorenal syndrome 1 12.0
8 branchiootorenal syndrome 11.9
9 oculodentodigital dysplasia 11.5
10 vaginal atresia 11.4
11 gnathomiasis 11.2
12 bifid nose with or without anorectal and renal anomalies 11.1
13 branchiootorenal/branchiootic syndrome 11.1
14 dwarfism 10.4
15 fryns microphthalmia syndrome 10.3
16 holoprosencephaly 10.2
17 patau syndrome 10.2
18 ablepharon-macrostomia syndrome 10.0 FRAS1 FREM2
19 obsessive-compulsive disorder 10.0
20 arthritis 10.0
21 dracunculiasis 10.0
22 adenocarcinoma 10.0
23 gastric adenocarcinoma 10.0
24 vasculitis 10.0
25 yellow fever 10.0
26 iniencephaly 10.0
27 alobar holoprosencephaly 10.0
28 colonic atresia 10.0
29 gonadoblastoma 10.0
30 gonadal dysgenesis 10.0
31 ovarian cyst 9.9
32 encephalocele 9.9
33 cytomegalovirus infection 9.9
34 frontal encephalocele 9.9
35 atresia of urethra 9.9
36 renal hypodysplasia/aplasia 3 9.9 FRAS1 FREM1 FREM2
37 cakut 9.9 FRAS1 FREM2
38 diaphragmatic hernia, congenital 9.8 FRAS1 FREM1 FREM2

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:

33 (show top 50) (show all 87)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 33 hallmark (90%) HP:0006101
2 blindness 33 hallmark (90%) HP:0000618
3 multicystic kidney dysplasia 33 hallmark (90%) HP:0000003
4 renal hypoplasia 33 hallmark (90%) HP:0000089
5 cryptophthalmos 33 hallmark (90%) HP:0001126
6 lacrimal duct aplasia 33 hallmark (90%) HP:0007925
7 malformed lacrimal duct 33 hallmark (90%) HP:0007993
8 hypertelorism 33 frequent (33%) HP:0000316
9 dental malocclusion 33 frequent (33%) HP:0000689
10 depressed nasal bridge 33 frequent (33%) HP:0005280
11 wide nasal bridge 33 frequent (33%) HP:0000431
12 external ear malformation 33 frequent (33%) HP:0008572
13 microphthalmia 33 frequent (33%) HP:0000568
14 low-set, posteriorly rotated ears 33 frequent (33%) HP:0000368
15 dental crowding 33 frequent (33%) HP:0000678
16 anal atresia 33 frequent (33%) HP:0002023
17 hypoplasia of penis 33 frequent (33%) HP:0008736
18 female pseudohermaphroditism 33 frequent (33%) HP:0010458
19 ambiguous genitalia 33 frequent (33%) HP:0000062
20 toe syndactyly 33 frequent (33%) HP:0001770
21 anophthalmia 33 frequent (33%) HP:0000528
22 scrotal hypoplasia 33 frequent (33%) HP:0000046
23 anal stenosis 33 frequent (33%) HP:0002025
24 laryngeal stenosis 33 frequent (33%) HP:0001602
25 bifid tongue 33 frequent (33%) HP:0010297
26 vaginal atresia 33 frequent (33%) HP:0000148
27 wide pubic symphysis 33 frequent (33%) HP:0003183
28 high palate 33 occasional (7.5%) HP:0000218
29 intellectual disability 33 occasional (7.5%) HP:0001249
30 umbilical hernia 33 occasional (7.5%) HP:0001537
31 microcephaly 33 occasional (7.5%) HP:0000252
32 cryptorchidism 33 occasional (7.5%) HP:0000028
33 wide intermamillary distance 33 occasional (7.5%) HP:0006610
34 underdeveloped nasal alae 33 occasional (7.5%) HP:0000430
35 hypospadias 33 occasional (7.5%) HP:0000047
36 conductive hearing impairment 33 occasional (7.5%) HP:0000405
37 abnormal hair pattern 33 occasional (7.5%) HP:0010720
38 tracheal stenosis 33 occasional (7.5%) HP:0002777
39 vertebral segmentation defect 33 occasional (7.5%) HP:0003422
40 cleft upper lip 33 occasional (7.5%) HP:0000204
41 atresia of the external auditory canal 33 occasional (7.5%) HP:0000413
42 urethral atresia 33 occasional (7.5%) HP:0000068
43 encephalocele 33 occasional (7.5%) HP:0002084
44 omphalocele 33 occasional (7.5%) HP:0001539
45 ectopic anus 33 occasional (7.5%) HP:0004397
46 pulmonary hypoplasia 33 occasional (7.5%) HP:0002089
47 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
48 abnormal lung lobation 33 occasional (7.5%) HP:0002101
49 bicornuate uterus 33 occasional (7.5%) HP:0000813
50 myelomeningocele 33 occasional (7.5%) HP:0002475

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 FRAS1 FREM1 FREM2 GRIP1
2 renal/urinary system MP:0005367 9.1 FRAS1 FREM1 FREM2 GRIP1 ITGA8 NPNT

Drugs & Therapeutics for Fraser Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 30 FRAS1

Anatomical Context for Fraser Syndrome 1

MalaCards organs/tissues related to Fraser Syndrome 1:

42
Skin, Kidney, Eye, Trachea, Testes, Tongue, Uterus

Publications for Fraser Syndrome 1

Articles related to Fraser Syndrome 1:

(show top 50) (show all 113)
# Title Authors Year
1
Lacrimal Drainage Anomalies in Fraser Syndrome. ( 29303941 )
2018
2
Oral manifestations and rehabilitation in Fraser syndrome: A case report. ( 29873822 )
2018
3
Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review. ( 30364810 )
2018
4
Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome. ( 25811163 )
2017
5
Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation. ( 27341656 )
2017
6
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. ( 27624506 )
2017
7
Oral healthcare in Fraser syndrome. ( 29120500 )
2017
8
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. ( 27859469 )
2016
9
Fraser Syndrome - a Case Report and Review of Literature. ( 28465758 )
2016
10
Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. ( 26267579 )
2015
11
A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. ( 26043503 )
2015
12
Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature. ( 26384833 )
2015
13
Fraser Syndrome. ( 26522198 )
2015
14
Prenatal diagnosis of Fraser syndrome: a matter of life or death? ( 26552811 )
2015
15
Vaginal atresia in a case of fraser syndrome. ( 25404827 )
2014
16
Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum. ( 24357607 )
2014
17
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. ( 24700879 )
2014
18
Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics. ( 25230075 )
2014
19
Fraser syndrome-oral manifestations and a dental care protocol. ( 25587460 )
2014
20
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. ( 23473829 )
2013
21
Fraser syndrome: epidemiological study in a European population. ( 23532946 )
2013
22
Anesthetic management in a case of Fraser syndrome. ( 23717248 )
2013
23
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. ( 24551978 )
2013
24
Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele. ( 22730198 )
2012
25
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. ( 23064016 )
2012
26
Expression of Fraser syndrome genes in normal and polycystic murine kidneys. ( 21993971 )
2012
27
Mutations in GRIP1 cause Fraser syndrome. ( 22510445 )
2012
28
Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins. ( 22613833 )
2012
29
MRI findings of intracranial malformations in a case with Fraser syndrome. ( 22827970 )
2012
30
Fused pulmonary lobes is a rat model of human Fraser syndrome. ( 21756877 )
2011
31
Case report: hypodontia and short roots in a child with Fraser syndrome. ( 21806907 )
2011
32
Fraser syndrome in three consecutive siblings. ( 21897626 )
2011
33
Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling. ( 22029163 )
2011
34
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. ( 20419147 )
2010
35
A surgical strategy for the correction of Fraser syndrome cryptophthalmos. ( 19643480 )
2009
36
Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome. ( 18083592 )
2008
37
Quiz page April 2008: deafness, preauricular pits, and renal failure. BOR syndrome or Melnick-Fraser syndrome. ( 18371523 )
2008
38
Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy. ( 17990920 )
2008
39
Fraser syndrome due to homozygosity for a splice site mutation of FREM2. ( 18203166 )
2008
40
Fraser syndrome: a new case report with review of the literature. ( 18568997 )
2008
41
Fraser syndrome with partial anomalous pulmonary venous connection. ( 18599943 )
2008
42
Fraser syndrome. ( 18603689 )
2008
43
The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. ( 18661360 )
2008
44
Molecular study of 33 families with Fraser syndrome new data and mutation review. ( 18671281 )
2008
45
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. ( 18787044 )
2008
46
Fraser syndrome. ( 19065328 )
2008
47
The presence of bilateral hip dysplasia and genu valgum in Fraser syndrome. ( 19292157 )
2008
48
Noncompaction in Melnick Fraser syndrome. ( 17669095 )
2007
49
Recurrent Fraser syndrome. ( 17266165 )
2007
50
Intrafamilial variability in Fraser syndrome. ( 17546704 )
2007

Variations for Fraser Syndrome 1

ClinVar genetic disease variations for Fraser Syndrome 1:

6 (show top 50) (show all 1156)
# Gene Variation Type Significance SNP ID Assembly Location
1 FRAS1 NM_025074.6(FRAS1): c.8602C> T (p.Gln2868Ter) single nucleotide variant Pathogenic rs120074156 GRCh37 Chromosome 4, 79403116: 79403116
2 FRAS1 NM_025074.6(FRAS1): c.8602C> T (p.Gln2868Ter) single nucleotide variant Pathogenic rs120074156 GRCh38 Chromosome 4, 78481962: 78481962
3 FRAS1 NM_025074.6(FRAS1): c.9013C> T (p.Gln3005Ter) single nucleotide variant Pathogenic rs120074157 GRCh37 Chromosome 4, 79418013: 79418013
4 FRAS1 NM_025074.6(FRAS1): c.9013C> T (p.Gln3005Ter) single nucleotide variant Pathogenic rs120074157 GRCh38 Chromosome 4, 78496859: 78496859
5 FRAS1 FRAS1, 1-BP INS, 5605T insertion Pathogenic
6 FRAS1 NM_025074.6(FRAS1): c.3799C> T (p.Gln1267Ter) single nucleotide variant Pathogenic rs120074158 GRCh37 Chromosome 4, 79308679: 79308679
7 FRAS1 NM_025074.6(FRAS1): c.3799C> T (p.Gln1267Ter) single nucleotide variant Pathogenic rs120074158 GRCh38 Chromosome 4, 78387525: 78387525
8 FRAS1 NM_025074.6(FRAS1): c.4271C> G (p.Ser1424Ter) single nucleotide variant Pathogenic rs120074159 GRCh37 Chromosome 4, 79328958: 79328958
9 FRAS1 NM_025074.6(FRAS1): c.4271C> G (p.Ser1424Ter) single nucleotide variant Pathogenic rs120074159 GRCh38 Chromosome 4, 78407804: 78407804
10 FRAS1 NM_025074.6(FRAS1): c.5419_5424delTTCTCT (p.Phe1807_Ser1808del) deletion Pathogenic rs730882178 GRCh37 Chromosome 4, 79360108: 79360113
11 FRAS1 NM_025074.6(FRAS1): c.5419_5424delTTCTCT (p.Phe1807_Ser1808del) deletion Pathogenic rs730882178 GRCh38 Chromosome 4, 78438954: 78438959
12 FRAS1 NM_025074.6(FRAS1): c.6963_6964dupGG (p.Val2322Glyfs) duplication Pathogenic rs730882179 GRCh37 Chromosome 4, 79385671: 79385672
13 FRAS1 NM_025074.6(FRAS1): c.6963_6964dupGG (p.Val2322Glyfs) duplication Pathogenic rs730882179 GRCh38 Chromosome 4, 78464517: 78464518
14 FRAS1 NM_025074.6(FRAS1): c.7522+1G> T single nucleotide variant Pathogenic rs730882180 GRCh37 Chromosome 4, 79393485: 79393485
15 FRAS1 NM_025074.6(FRAS1): c.7522+1G> T single nucleotide variant Pathogenic rs730882180 GRCh38 Chromosome 4, 78472331: 78472331
16 FREM2 NM_207361.5(FREM2): c.2740T> G (p.Cys914Gly) single nucleotide variant Uncertain significance rs146685625 GRCh37 Chromosome 13, 39264221: 39264221
17 FREM2 NM_207361.5(FREM2): c.2740T> G (p.Cys914Gly) single nucleotide variant Uncertain significance rs146685625 GRCh38 Chromosome 13, 38690084: 38690084
18 FREM2 NM_207361.5(FREM2): c.3209T> C (p.Phe1070Ser) single nucleotide variant Benign rs2496425 GRCh37 Chromosome 13, 39264690: 39264690
19 FREM2 NM_207361.5(FREM2): c.3209T> C (p.Phe1070Ser) single nucleotide variant Benign rs2496425 GRCh38 Chromosome 13, 38690553: 38690553
20 FREM2 NM_207361.5(FREM2): c.2367G> A (p.Pro789=) single nucleotide variant Uncertain significance rs140101984 GRCh37 Chromosome 13, 39263848: 39263848
21 FREM2 NM_207361.5(FREM2): c.2367G> A (p.Pro789=) single nucleotide variant Uncertain significance rs140101984 GRCh38 Chromosome 13, 38689711: 38689711
22 FREM2 NM_207361.5(FREM2): c.2823C> T (p.Pro941=) single nucleotide variant Uncertain significance rs150154438 GRCh37 Chromosome 13, 39264304: 39264304
23 FREM2 NM_207361.5(FREM2): c.2823C> T (p.Pro941=) single nucleotide variant Uncertain significance rs150154438 GRCh38 Chromosome 13, 38690167: 38690167
24 FREM2 NM_207361.4(FREM2): c.1580C> T (p.Ser527Leu) single nucleotide variant Uncertain significance rs139804851 GRCh37 Chromosome 13, 39263061: 39263061
25 FREM2 NM_207361.4(FREM2): c.1580C> T (p.Ser527Leu) single nucleotide variant Uncertain significance rs139804851 GRCh38 Chromosome 13, 38688924: 38688924
26 FREM2 NM_207361.5(FREM2): c.2128C> T (p.Arg710Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41292753 GRCh37 Chromosome 13, 39263609: 39263609
27 FREM2 NM_207361.5(FREM2): c.2128C> T (p.Arg710Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41292753 GRCh38 Chromosome 13, 38689472: 38689472
28 FREM2 NM_207361.5(FREM2): c.84C> G (p.Pro28=) single nucleotide variant Conflicting interpretations of pathogenicity rs141718695 GRCh37 Chromosome 13, 39261565: 39261565
29 FREM2 NM_207361.5(FREM2): c.84C> G (p.Pro28=) single nucleotide variant Conflicting interpretations of pathogenicity rs141718695 GRCh38 Chromosome 13, 38687428: 38687428
30 FREM2 NM_207361.5(FREM2): c.5003G> A (p.Arg1668His) single nucleotide variant Benign/Likely benign rs1868463 GRCh37 Chromosome 13, 39266484: 39266484
31 FREM2 NM_207361.5(FREM2): c.5003G> A (p.Arg1668His) single nucleotide variant Benign/Likely benign rs1868463 GRCh38 Chromosome 13, 38692347: 38692347
32 FREM2 NM_207361.5(FREM2): c.1542C> T (p.Ala514=) single nucleotide variant Benign rs12874397 GRCh37 Chromosome 13, 39263023: 39263023
33 FREM2 NM_207361.5(FREM2): c.1542C> T (p.Ala514=) single nucleotide variant Benign rs12874397 GRCh38 Chromosome 13, 38688886: 38688886
34 FREM2 NM_207361.5(FREM2): c.2233C= (p.Pro745=) single nucleotide variant Benign rs2496423 GRCh37 Chromosome 13, 39263714: 39263714
35 FREM2 NM_207361.5(FREM2): c.2233C= (p.Pro745=) single nucleotide variant Benign rs2496423 GRCh38 Chromosome 13, 38689577: 38689577
36 FREM2 NM_207361.5(FREM2): c.2250C> T (p.Asp750=) single nucleotide variant Benign/Likely benign rs41292755 GRCh37 Chromosome 13, 39263731: 39263731
37 FREM2 NM_207361.5(FREM2): c.2250C> T (p.Asp750=) single nucleotide variant Benign/Likely benign rs41292755 GRCh38 Chromosome 13, 38689594: 38689594
38 FREM2 NM_207361.5(FREM2): c.303C> A (p.Pro101=) single nucleotide variant Benign/Likely benign rs8002488 GRCh37 Chromosome 13, 39261784: 39261784
39 FREM2 NM_207361.5(FREM2): c.303C> A (p.Pro101=) single nucleotide variant Benign/Likely benign rs8002488 GRCh38 Chromosome 13, 38687647: 38687647
40 GRIP1 NM_021150.3(GRIP1): c.1199-10_1199-8delGTT deletion Benign/Likely benign rs148083271 GRCh37 Chromosome 12, 66839296: 66839298
41 GRIP1 NM_021150.3(GRIP1): c.1199-10_1199-8delGTT deletion Benign/Likely benign rs148083271 GRCh38 Chromosome 12, 66445516: 66445518
42 FRAS1 NM_025074.6(FRAS1): c.1947T> C (p.His649=) single nucleotide variant Benign rs345514 GRCh37 Chromosome 4, 79238649: 79238649
43 FRAS1 NM_025074.6(FRAS1): c.1947T> C (p.His649=) single nucleotide variant Benign rs345514 GRCh38 Chromosome 4, 78317495: 78317495
44 GRIP1 NM_021150.3(GRIP1): c.2450G> A (p.Arg817Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145115262 GRCh37 Chromosome 12, 66773075: 66773075
45 GRIP1 NM_021150.3(GRIP1): c.2450G> A (p.Arg817Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145115262 GRCh38 Chromosome 12, 66379295: 66379295
46 FRAS1 NM_025074.6(FRAS1): c.3312T> C (p.Ser1104=) single nucleotide variant Benign/Likely benign rs35774552 GRCh37 Chromosome 4, 79300899: 79300899
47 FRAS1 NM_025074.6(FRAS1): c.3312T> C (p.Ser1104=) single nucleotide variant Benign/Likely benign rs35774552 GRCh38 Chromosome 4, 78379745: 78379745
48 FRAS1 NM_025074.6(FRAS1): c.3406G> A (p.Glu1136Lys) single nucleotide variant Benign rs12512164 GRCh37 Chromosome 4, 79300993: 79300993
49 FRAS1 NM_025074.6(FRAS1): c.3406G> A (p.Glu1136Lys) single nucleotide variant Benign rs12512164 GRCh38 Chromosome 4, 78379839: 78379839
50 FRAS1 NM_025074.6(FRAS1): c.3370dupT (p.Ser1124Phefs) duplication Pathogenic rs797044696 GRCh37 Chromosome 4, 79300957: 79300957

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 ITGA8 MATN4

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 FRAS1 FREM3 HMCN1 NPNT
2 basement membrane GO:0005604 9.1 FRAS1 FREM1 FREM2 FREM3 HMCN1 NPNT
3 integrin alpha8-beta1 complex GO:0034678 8.96 ITGA8 NPNT

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.76 FREM1 FREM2 ITGA8 NPNT
2 cell adhesion GO:0007155 9.55 FREM1 FREM2 FREM3 ITGA8 NPNT
3 extracellular matrix organization GO:0030198 9.54 ITGA8 MATN4 NPNT
4 establishment of protein localization GO:0045184 9.43 ITGA8 NPNT
5 cell-matrix adhesion GO:0007160 9.43 FREM1 ITGA8 NPNT
6 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.4 ITGA8 NPNT
7 morphogenesis of an epithelium GO:0002009 9.32 FRAS1 FREM2
8 positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000721 8.96 ITGA8 NPNT
9 cell communication GO:0007154 8.92 FRAS1 FREM1 FREM2 FREM3

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 FRAS1 HMCN1 NPNT

Sources for Fraser Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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