FRASRS1
MCID: FRS014
MIFTS: 56

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 56 12 73 29 6 15
Fraser Syndrome 56 12 74 52 25 58 36 13 54 43 15 39
Cryptophthalmos with Other Malformations 56 12 52 25
Cryptophthalmos Syndrome 52 25 29 71
Cryptophthalmos-Syndactyly Syndrome 56 52 58
Frasrs1 56 12 73
Fraser-Francois Syndrome 52 25
Cryptophthalmos Syndactyly Syndrome 25
Meyer-Schwickerath's Syndrome 52
Meyer-Schwickerath Syndrome 25
Ullrich-Feichtiger Syndrome 25
Ulrich-Feichtiger Syndrome 52
Fraser's Syndrome 25
Cyclopism 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
fraser syndrome 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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 cryptophthalmos and cakut. An important gene associated with Fraser Syndrome 1 is FRAS1 (Fraser Extracellular Matrix Complex Subunit 1), and among its related pathways/superpathways are Phospholipase-C Pathway and ECM-receptor interaction. Affiliated tissues include kidney, skin and testes, and related phenotypes are blindness and renal hypoplasia

Disease Ontology : 12 A syndrome 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 : 52 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 : 56 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 : 36 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 : 73 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 : 74 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 top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 cryptophthalmos 33.1 GRIP1 FREM2 FREM1 FRAS1
2 cakut 32.9 FREM2 FREM1 FRAS1
3 chromosome 2q35 duplication syndrome 31.7 GRIP1 FREM3 FREM2 FREM1 FRAS1
4 partial cryptophthalmia 30.9 FREM2 FREM1 FRAS1
5 coloboma of macula 30.6 FREM2 FREM1 FRAS1
6 renal hypodysplasia/aplasia 1 30.4 GRIP1 FREM3 FREM2 FREM1 FRAS1
7 anus, imperforate 30.0 FREM2 FRAS1
8 fraser syndrome 2 12.7
9 fraser syndrome 3 12.7
10 sanderson fraser syndrome 12.2
11 branchiootorenal syndrome 1 12.2
12 branchiootorenal syndrome 12.1
13 oculodentodigital dysplasia 11.6
14 vaginal atresia 11.5
15 gnathomiasis 11.3
16 branchiootorenal/branchiootic syndrome 11.2
17 bifid nose with or without anorectal and renal anomalies 11.2
18 acrorenal syndrome 10.5 FREM2 FRAS1
19 congenital symblepharon 10.5 FREM2 FRAS1
20 chromosomal triplication 10.5
21 laryngostenosis 10.5 FREM2 FREM1 FRAS1
22 renal hypodysplasia/aplasia 3 10.5 FREM2 FREM1 FRAS1
23 cryptophthalmos, unilateral or bilateral, isolated 10.4 FREM2 FREM1 FRAS1
24 oculoectodermal syndrome 10.4 FREM2 FRAS1
25 dwarfism 10.4
26 dacryocystocele 10.4 FREM2 FRAS1
27 diaphragmatic hernia, congenital 10.4 FREM2 FREM1 FRAS1
28 holoprosencephaly 10.4
29 synostosis 10.4 FREM2 FREM1 FRAS1
30 chronic inflammation of lacrimal passage 10.4 FREM2 FRAS1
31 microphthalmia 10.4
32 oligohydramnios 10.3
33 severe acute respiratory syndrome 10.3
34 cyanosis, transient neonatal 10.3
35 congenital subglottic stenosis 10.3
36 renal agenesis, bilateral 10.3
37 papillorenal syndrome 10.2 FREM2 FRAS1
38 holoprosencephaly 1 10.2
39 patau syndrome 10.2
40 hypertelorism 10.2
41 fryns microphthalmia syndrome 10.2
42 umbilical hernia 10.2
43 frem1 autosomal recessive disorders 10.2
44 holoprosencephaly 3 10.1
45 papillomatosis, confluent and reticulated 10.1
46 dracunculiasis 10.1
47 vasculitis 10.1
48 alobar holoprosencephaly 10.1
49 hypospadias 10.1
50 fraser-like syndrome 10.1

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



Diseases related to Fraser Syndrome 1

Symptoms & Phenotypes for Fraser Syndrome 1

Human phenotypes related to Fraser Syndrome 1:

58 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
2 renal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000089
3 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
4 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
5 cryptophthalmos 58 31 hallmark (90%) Very frequent (99-80%) HP:0001126
6 lacrimal duct aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007925
7 malformed lacrimal duct 31 hallmark (90%) HP:0007993
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
10 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
11 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
12 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
13 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
14 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
15 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
16 anophthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000528
17 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
18 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
19 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
20 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
21 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
22 anal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002025
23 female pseudohermaphroditism 58 31 frequent (33%) Frequent (79-30%) HP:0010458
24 laryngeal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001602
25 vaginal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000148
26 wide pubic symphysis 58 31 frequent (33%) Frequent (79-30%) HP:0003183
27 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
28 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
29 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
30 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
31 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
32 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
33 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
34 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
35 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
36 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
37 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
38 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
39 atresia of the external auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0000413
40 abnormal hair pattern 58 31 occasional (7.5%) Occasional (29-5%) HP:0010720
41 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
42 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
43 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
44 urethral atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000068
45 abnormal lung lobation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002101
46 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
47 tracheal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002777
48 myelomeningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002475
49 bicornuate uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000813
50 subglottic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001607

Symptoms via clinical synopsis from OMIM:

56
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

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 Fraser Syndrome 1 29 FRAS1
2 Cryptophthalmos Syndrome 29

Anatomical Context for Fraser Syndrome 1

MalaCards organs/tissues related to Fraser Syndrome 1:

40
Kidney, Skin, Testes, Heart, Eye, Trachea, Tongue

Publications for Fraser Syndrome 1

Articles related to Fraser Syndrome 1:

(show top 50) (show all 209)
# Title Authors PMID Year
1
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. 61 56 6
17163535 2007
2
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. 61 56 6
16894541 2006
3
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. 61 6 56
12766769 2003
4
Molecular study of 33 families with Fraser syndrome new data and mutation review. 61 56
18671281 2008
5
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. 56 61
18000968 2007
6
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. 56 61
16880404 2006
7
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. 61 56
15838507 2005
8
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 56 61
14730302 2004
9
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. 61 56
12766770 2003
10
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. 56 61
12205104 2002
11
Fraser syndrome: diagnosed in a 50-year-old museum specimen. 56 61
10995515 2000
12
Fraser syndrome associated with anterior urethral atresia. 56 61
10051174 1999
13
Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome. 56 61
7747754 1994
14
A mouse model for Fraser syndrome? 56 61
8055142 1994
15
Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids. 56 61
7917132 1994
16
Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. 56 61
2175543 1990
17
Fraser syndrome with renal agenesis in two consanguineous Turkish families. 61 56
2389805 1990
18
Fraser syndrome and mouse 'bleb' mutants. 56 61
2166630 1990
19
Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. 61 56
2155726 1990
20
Fraser syndrome: prenatal ultrasonic detection. 61 56
2672816 1989
21
Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. 56 61
2851937 1988
22
The clinical spectrum of the Fraser syndrome: report of three new cases and review. 56 61
3118036 1987
23
Isolated and syndromic cryptophthalmos. 56 61
3099574 1986
24
Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis. 61 56
3920396 1985
25
Fraser syndrome presenting as bilateral renal agenesis in three sibs. 56 61
7143389 1982
26
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. 61 52
27859469 2016
27
Syndromic cryptophthalmos. 56
3142259 1988
28
Cryptophthalmos-syndactyly syndrome without cryptophthalmos. 56
3102131 1986
29
Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome. 56
3086530 1986
30
Cryptophthalmos--syndactyly syndrome without cryptophthalmos. 56
3091298 1986
31
Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. 56
6329562 1984
32
Cryptophthalmos syndrome with bilateral renal agenesis. 56
6264788 1981
33
Cryptophthalmos in two families from Bahia, Brazil. 56
4774831 1973
34
Multiple congenital abnormalities associated with cryptophthalmia. 56
4305611 1969
35
[Malformative syndrome with cryptophthalmos]. 56
5799332 1969
36
CRYPTOPHTHALMOS. 56
18170825 1962
37
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. 61 54
20419147 2010
38
Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice. 61 54
18563433 2008
39
Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy. 54 61
17990920 2008
40
Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. 54 61
18155042 2008
41
Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa. 61 54
17596926 2007
42
Ultrastructural localization of Fras1 in the sublamina densa of embryonic epithelial basement membranes. 54 61
17576586 2007
43
Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development. 54 61
17251066 2007
44
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. 61
32488952 2020
45
Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report. 61
32522149 2020
46
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. 61
31999076 2020
47
Fraser syndrome without cryptophthalmos: Two cases. 61
31923588 2020
48
Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse. 61
32333816 2020
49
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome. 61
32277492 2020
50
Anesthetic management of Fraser syndrome-Check laryngoscopy can help! 61
32077566 2020

Variations for Fraser Syndrome 1

ClinVar genetic disease variations for Fraser Syndrome 1:

6 (show top 50) (show all 544) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FRAS1 NM_025074.7(FRAS1):c.11266_11269AACA[1] (p.Lys3757fs)short repeat Pathogenic 626320 4:79458320-79458323 4:78537166-78537169
2 FRAS1 NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)SNV Pathogenic 633615 rs1006839535 4:79447706-79447706 4:78526552-78526552
3 FRAS1 NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs)duplication Pathogenic 633784 rs1560433104 4:79462135-79462136 4:78540981-78540982
4 FRAS1 NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter)SNV Pathogenic 635334 4:79176442-79176442 4:78255288-78255288
5 FRAS1 NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter)SNV Pathogenic 916637 4:79166455-79166455 4:78245301-78245301
6 FRAS1 NM_025074.7(FRAS1):c.570_571CA[4] (p.Ala192fs)short repeat Pathogenic 916642 4:79176495-79176496 4:78255341-78255342
7 FRAS1 NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter)SNV Pathogenic 916645 4:79186194-79186194 4:78265040-78265040
8 FRAS1 NC_000004.12:g.78268671_78298757deldeletion Pathogenic 916640
9 FRAS1 NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter)SNV Pathogenic 916650 4:79203987-79203987 4:78282833-78282833
10 FRAS1 NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter)SNV Pathogenic 916647 4:79204019-79204019 4:78282865-78282865
11 FRAS1 NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter)SNV Pathogenic 916655 4:79240013-79240013 4:78318859-78318859
12 FRAS1 NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)SNV Pathogenic 916643 4:79308610-79308610 4:78387456-78387456
13 FRAS1 NM_025074.7(FRAS1):c.4032dup (p.Met1345fs)duplication Pathogenic 916659 4:79321938-79321939 4:78400784-78400785
14 FRAS1 NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter)SNV Pathogenic 916639 4:79322023-79322023 4:78400869-78400869
15 FRAS1 NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)SNV Pathogenic 916660 4:79328870-79328870 4:78407716-78407716
16 FRAS1 NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter)SNV Pathogenic 916646 4:79353675-79353675 4:78432521-78432521
17 FRAS1 NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs)deletion Pathogenic 916654 4:79353708-79353714 4:78432554-78432560
18 FRAS1 NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs)duplication Pathogenic 916657 4:79362353-79362354 4:78441199-78441200
19 FRAS1 NM_025074.7(FRAS1):c.5716del (p.Ile1906fs)deletion Pathogenic 916662 4:79366726-79366726 4:78445572-78445572
20 FRAS1 NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs)duplication Pathogenic 916664 4:79367974-79367975 4:78446820-78446821
21 FRAS1 NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)SNV Pathogenic 916663 4:79368034-79368034 4:78446880-78446880
22 FRAS1 NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter)SNV Pathogenic 916661 4:79428724-79428724 4:78507570-78507570
23 FRAS1 NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter)SNV Pathogenic 916666 4:79430007-79430007 4:78508853-78508853
24 FRAS1 NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter)SNV Pathogenic 916669 4:79455676-79455676 4:78534522-78534522
25 FRAS1 NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter)SNV Pathogenic 916641 4:79458214-79458214 4:78537060-78537060
26 FRAS1 NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter)SNV Pathogenic 916656 4:79461712-79461712 4:78540558-78540558
27 FRAS1 NM_025074.7(FRAS1):c.688-5T>GSNV Pathogenic 916644 4:79187983-79187983 4:78266829-78266829
28 FRAS1 NM_025074.7(FRAS1):c.1399+1G>ASNV Pathogenic 916652 4:79205703-79205703 4:78284549-78284549
29 FRAS1 NM_025074.7(FRAS1):c.8098+1G>TSNV Pathogenic 916665 4:79399216-79399216 4:78478062-78478062
30 FRAS1 NM_025074.7(FRAS1):c.9316+2T>ASNV Pathogenic 916638 4:79421077-79421077 4:78499923-78499923
31 FRAS1 NM_025074.7(FRAS1):c.10541-1G>ASNV Pathogenic 916668 4:79442676-79442676 4:78521522-78521522
32 FRAS1 NM_025074.7(FRAS1):c.11298+1G>ASNV Pathogenic 916651 4:79458355-79458355 4:78537201-78537201
33 FRAS1 NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter)SNV Pathogenic 2809 rs120074156 4:79403116-79403116 4:78481962-78481962
34 FRAS1 NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter)SNV Pathogenic 2812 rs120074158 4:79308679-79308679 4:78387525-78387525
35 FRAS1 NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)SNV Pathogenic 2813 rs120074159 4:79328958-79328958 4:78407804-78407804
36 FRAS1 NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter)SNV Pathogenic 2810 rs120074157 4:79418013-79418013 4:78496859-78496859
37 FRAS1 FRAS1, 1-BP INS, 5605Tinsertion Pathogenic 2811
38 FRAS1 NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)duplication Pathogenic 2815 rs730882179 4:79385669-79385670 4:78464515-78464516
39 FRAS1 NM_025074.7(FRAS1):c.7522+1G>TSNV Pathogenic 2816 rs730882180 4:79393485-79393485 4:78472331-78472331
40 FRAS1 NM_025074.7(FRAS1):c.2722+1G>ASNV Pathogenic 195697 rs794727365 4:79285209-79285209 4:78364055-78364055
41 FRAS1 NM_025074.7(FRAS1):c.5664_5665+19delinsTindel Pathogenic 219183 rs886037766 4:79362450-79362470 4:78441296-78441316
42 FRAS1 NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)deletion Pathogenic 219182 rs886037765 4:79437065-79437065 4:78515911-78515911
43 FRAS1 NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)SNV Pathogenic 197861 rs377046630 4:79173606-79173606 4:78252452-78252452
44 FRAS1 NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)SNV Pathogenic/Likely pathogenic 435260 rs755750961 4:79285205-79285205 4:78364051-78364051
45 FREM2 NM_207361.6(FREM2):c.6348_6349CA[1] (p.Thr2117fs)short repeat Likely pathogenic 667374 13:39422776-39422777 13:38848639-38848640
46 FRAS1 NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe)SNV Likely pathogenic 633785 rs1325190118 4:79293896-79293896 4:78372742-78372742
47 FRAS1 NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter)SNV Likely pathogenic 623172 rs757311669 4:79360059-79360059 4:78438905-78438905
48 FRAS1 NM_025074.7(FRAS1):c.11445+5_11445+11delinsCindel Likely pathogenic 916670 4:79460599-79460605 4:78539445-78539451
49 FRAS1 NM_025074.7(FRAS1):c.8604+5G>ASNV Likely pathogenic 916658 4:79403123-79403123 4:78481969-78481969
50 FRAS1 NM_025074.7(FRAS1):c.2647G>A (p.Val883Met)SNV Conflicting interpretations of pathogenicity 702716 4:79285133-79285133 4:78363979-78363979

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
Show member pathways
12.45 ITGA3 FREM2 FREM1 FRAS1 ECM2
2
Show member pathways
11.12 ITGA3 FREM2 FREM1 FRAS1
3 10.26 ITGA3 FREM2 FREM1 FRAS1 ECM2

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 basement membrane GO:0005604 9.02 HMCN1 FREM3 FREM2 FREM1 FRAS1

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

# Name GO ID Score Top Affiliating Genes
1 cell-matrix adhesion GO:0007160 9.33 ITGA3 FREM1 ECM2
2 positive regulation of cell-substrate adhesion GO:0010811 9.32 ITGA3 ECM2
3 morphogenesis of an epithelium GO:0002009 9.26 FREM2 FRAS1
4 heart development GO:0007507 9.26 MICAL2 ITGA3 FREM2 CDKL1
5 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 metal ion binding GO:0046872 9.32 ZNF665 TRHDE PXDNL MICAL2 LIMD2 ITGA3

Sources for Fraser Syndrome 1

3 CDC
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