MCID: FRS014
MIFTS: 51

Fraser Syndrome 1

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Fraser Syndrome 1

MalaCards integrated aliases for Fraser Syndrome 1:

Name: Fraser Syndrome 1 57 75
Fraser Syndrome 57 12 76 53 25 37 13 55 44 15 40
Cryptophthalmos Syndrome 53 25 29 6 73
Cryptophthalmos with Other Malformations 57 12 53 25
Cryptophthalmos-Syndactyly Syndrome 57 53
Fraser-Francois Syndrome 53 25
Frasrs1 57 75
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:

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:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fraser Syndrome 1

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. 

MalaCards based summary : Fraser Syndrome 1, also known as fraser syndrome, is related to branchiootorenal syndrome and cryptophthalmos. An important gene associated with Fraser Syndrome 1 is FRAS1 (Fraser Extracellular Matrix Complex Subunit 1). Affiliated tissues include skin, kidney and eye, and related phenotypes are hypertelorism and low-set ears

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)

UniProtKB/Swiss-Prot : 75 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.

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.

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.

Wikipedia : 76 Fraser syndrome (also known as Meyer-Schwickerath\'s syndrome, Fraser-François syndrome, or... more...

Related Diseases for Fraser Syndrome 1

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



Diseases related to Fraser Syndrome 1

Symptoms & Phenotypes for Fraser Syndrome 1

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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Fraser Syndrome 1:

32 (show top 50) (show all 87)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 frequent (33%) HP:0000316
2 low-set ears 32 HP:0000369
3 finger syndactyly 32 hallmark (90%) HP:0006101
4 high palate 32 occasional (7.5%) HP:0000218
5 hydrocephalus 32 HP:0000238
6 intellectual disability 32 occasional (7.5%) HP:0001249
7 dental malocclusion 32 frequent (33%) HP:0000689
8 depressed nasal bridge 32 frequent (33%) HP:0005280
9 corneal opacity 32 HP:0007957
10 wide nasal bridge 32 frequent (33%) HP:0000431
11 umbilical hernia 32 occasional (7.5%) HP:0001537
12 microcephaly 32 occasional (7.5%) HP:0000252
13 blindness 32 hallmark (90%) HP:0000618
14 cleft palate 32 HP:0000175
15 cryptorchidism 32 occasional (7.5%) HP:0000028
16 wide intermamillary distance 32 occasional (7.5%) HP:0006610
17 external ear malformation 32 frequent (33%) HP:0008572
18 renal hypoplasia/aplasia 32 HP:0008678
19 abnormality of the pinna 32 HP:0000377
20 underdeveloped nasal alae 32 occasional (7.5%) HP:0000430
21 microphthalmia 32 frequent (33%) HP:0000568
22 hypospadias 32 occasional (7.5%) HP:0000047
23 multicystic kidney dysplasia 32 hallmark (90%) HP:0000003
24 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
25 dental crowding 32 frequent (33%) HP:0000678
26 conductive hearing impairment 32 occasional (7.5%) HP:0000405
27 anal atresia 32 frequent (33%) HP:0002023
28 renal hypoplasia 32 hallmark (90%) HP:0000089
29 hypoplasia of penis 32 frequent (33%) HP:0008736
30 abnormal hair pattern 32 occasional (7.5%) HP:0010720
31 tracheal stenosis 32 occasional (7.5%) HP:0002777
32 vertebral segmentation defect 32 occasional (7.5%) HP:0003422
33 female pseudohermaphroditism 32 frequent (33%) HP:0010458
34 ambiguous genitalia 32 frequent (33%) HP:0000062
35 cutaneous finger syndactyly 32 HP:0010554
36 toe syndactyly 32 frequent (33%) HP:0001770
37 cleft upper lip 32 occasional (7.5%) HP:0000204
38 atresia of the external auditory canal 32 occasional (7.5%) HP:0000413
39 wide nose 32 HP:0000445
40 urethral atresia 32 occasional (7.5%) HP:0000068
41 anophthalmia 32 frequent (33%) HP:0000528
42 encephalocele 32 occasional (7.5%) HP:0002084
43 omphalocele 32 occasional (7.5%) HP:0001539
44 ectopic anus 32 occasional (7.5%) HP:0004397
45 aplasia/hypoplasia of the thumb 32 HP:0009601
46 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
47 scrotal hypoplasia 32 frequent (33%) HP:0000046
48 absent eyelashes 32 HP:0000561
49 facial cleft 32 HP:0002006
50 abnormal lung lobation 32 occasional (7.5%) HP:0002101

MGI Mouse Phenotypes related to Fraser Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.86 EYA1 FRAS1 FREM1 FREM2 GRIP1 HOXD11
2 limbs/digits/tail MP:0005371 9.72 FRAS1 FREM1 FREM2 GRIP1 HOXD11
3 respiratory system MP:0005388 9.55 EYA1 FRAS1 FREM1 FREM2 ITGA8
4 skeleton MP:0005390 9.43 FRAS1 FREM1 FREM2 HOXD11 ITGA8 EYA1
5 vision/eye MP:0005391 9.1 EYA1 FRAS1 FREM1 FREM2 GRIP1 SIX5

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 29 FRAS1 FREM2 GRIP1

Anatomical Context for Fraser Syndrome 1

MalaCards organs/tissues related to Fraser Syndrome 1:

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

Publications for Fraser Syndrome 1

Articles related to Fraser Syndrome 1:

(show top 50) (show all 109)
# Title Authors Year
1
Oral healthcare in Fraser syndrome. ( 29120500 )
2017
2
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. ( 27624506 )
2016
3
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. ( 27859469 )
2016
4
Fraser Syndrome - a Case Report and Review of Literature. ( 28465758 )
2016
5
Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing - report of a novel homozygous missense FRAS1 mutation. ( 27341656 )
2016
6
Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. ( 26267579 )
2015
7
Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome. ( 25811163 )
2015
8
A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. ( 26043503 )
2015
9
Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature. ( 26384833 )
2015
10
Fraser Syndrome. ( 26522198 )
2015
11
Prenatal diagnosis of Fraser syndrome: a matter of life or death? ( 26552811 )
2015
12
Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics. ( 25230075 )
2014
13
Fraser syndrome-oral manifestations and a dental care protocol. ( 25587460 )
2014
14
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. ( 24700879 )
2014
15
Vaginal atresia in a case of fraser syndrome. ( 25404827 )
2014
16
Anesthetic management in a case of Fraser syndrome. ( 23717248 )
2013
17
Fraser syndrome: epidemiological study in a European population. ( 23532946 )
2013
18
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. ( 23473829 )
2013
19
Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum. ( 24357607 )
2013
20
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. ( 24551978 )
2013
21
Basement membrane assembly of the integrin I+8I^1 ligand nephronectin requires Fraser syndrome-associated proteins. ( 22613833 )
2012
22
Mutations in GRIP1 cause Fraser syndrome. ( 22510445 )
2012
23
Expression of Fraser syndrome genes in normal and polycystic murine kidneys. ( 21993971 )
2012
24
Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele. ( 22730198 )
2012
25
MRI findings of intracranial malformations in a case with Fraser syndrome. ( 22827970 )
2012
26
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. ( 23064016 )
2012
27
Fused pulmonary lobes is a rat model of human Fraser syndrome. ( 21756877 )
2011
28
Fraser syndrome in three consecutive siblings. ( 21897626 )
2011
29
Case report: hypodontia and short roots in a child with Fraser syndrome. ( 21806907 )
2011
30
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
31
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. ( 20419147 )
2010
32
A surgical strategy for the correction of Fraser syndrome cryptophthalmos. ( 19643480 )
2009
33
Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome. ( 18083592 )
2008
34
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
35
The presence of bilateral hip dysplasia and genu valgum in Fraser syndrome. ( 19292157 )
2008
36
Fraser syndrome: a new case report with review of the literature. ( 18568997 )
2008
37
Fraser syndrome. ( 18603689 )
2008
38
Fraser syndrome. ( 19065328 )
2008
39
Fraser syndrome with partial anomalous pulmonary venous connection. ( 18599943 )
2008
40
Fraser syndrome due to homozygosity for a splice site mutation of FREM2. ( 18203166 )
2008
41
Molecular study of 33 families with Fraser syndrome new data and mutation review. ( 18671281 )
2008
42
The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. ( 18661360 )
2008
43
Quiz page April 2008: deafness, preauricular pits, and renal failure. BOR syndrome or Melnick-Fraser syndrome. ( 18371523 )
2008
44
Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy. ( 17990920 )
2008
45
Intrafamilial variability in Fraser syndrome. ( 17546704 )
2007
46
Fraser syndrome: recurrence in a family. ( 18175849 )
2007
47
Clinical manifestations and oral findings in Fraser syndrome. ( 18482521 )
2007
48
Recurrent Fraser syndrome. ( 17266165 )
2007
49
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. ( 18000968 )
2007
50
Noncompaction in Melnick Fraser syndrome. ( 17669095 )
2007

Variations for Fraser Syndrome 1

ClinVar genetic disease variations for Fraser Syndrome 1:

6
(show top 50) (show all 1157)
# 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_207361.5(FREM2): c.1580C> T (p.Ser527Leu) single nucleotide variant Uncertain significance rs139804851 GRCh37 Chromosome 13, 39263061: 39263061
25 FREM2 NM_207361.5(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.1931delG (p.Gly644Valfs) deletion Pathogenic rs794727195 GRCh37 Chromosome 4, 79238633: 79238633
43 FRAS1 NM_025074.6(FRAS1): c.1931delG (p.Gly644Valfs) deletion Pathogenic rs794727195 GRCh38 Chromosome 4, 78317479: 78317479
44 FRAS1 NM_025074.6(FRAS1): c.1947T> C (p.His649=) single nucleotide variant Benign rs345514 GRCh37 Chromosome 4, 79238649: 79238649
45 FRAS1 NM_025074.6(FRAS1): c.1947T> C (p.His649=) single nucleotide variant Benign rs345514 GRCh38 Chromosome 4, 78317495: 78317495
46 GRIP1 NM_021150.3(GRIP1): c.2450G> A (p.Arg817Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145115262 GRCh37 Chromosome 12, 66773075: 66773075
47 GRIP1 NM_021150.3(GRIP1): c.2450G> A (p.Arg817Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145115262 GRCh38 Chromosome 12, 66379295: 66379295
48 FRAS1 NM_025074.6(FRAS1): c.2722+1G> A single nucleotide variant Pathogenic rs794727365 GRCh37 Chromosome 4, 79285209: 79285209
49 FRAS1 NM_025074.6(FRAS1): c.2722+1G> A single nucleotide variant Pathogenic rs794727365 GRCh38 Chromosome 4, 78364055: 78364055
50 FRAS1 NM_025074.6(FRAS1): c.3312T> C (p.Ser1104=) single nucleotide variant Benign/Likely benign rs35774552 GRCh37 Chromosome 4, 79300899: 79300899

Expression for Fraser Syndrome 1

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

Pathways for Fraser Syndrome 1

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 extracellular matrix GO:0031012 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.72 FREM1 FREM2 FREM3 ITGA8 NPNT
2 cell-matrix adhesion GO:0007160 9.54 FREM1 ITGA8 NPNT
3 inner ear morphogenesis GO:0042472 9.51 EYA1 ITGA8
4 multicellular organism development GO:0007275 9.5 EYA1 FREM1 FREM2 HOXD11 ITGA8 NPNT
5 ureteric bud development GO:0001657 9.49 EYA1 NPNT
6 establishment of protein localization GO:0045184 9.48 ITGA8 NPNT
7 metanephros development GO:0001656 9.46 EYA1 ITGA8
8 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.43 ITGA8 NPNT
9 branching involved in ureteric bud morphogenesis GO:0001658 9.43 EYA1 HOXD11 NPNT
10 morphogenesis of an epithelium GO:0002009 9.4 FRAS1 FREM2
11 positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000721 9.16 ITGA8 NPNT
12 cell communication GO:0007154 8.92 FRAS1 FREM1 FREM2 FREM3

Sources for Fraser Syndrome 1

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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