MCID: FRS014
MIFTS: 51

Fraser Syndrome 1

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Fraser Syndrome 1

MalaCards integrated aliases for Fraser Syndrome 1:

Name: Fraser Syndrome 1 54
Fraser Syndrome 12 50 25 71 13 52 14
Cryptophthalmos Syndrome 50 25 29 69
Cryptophthalmos with Other Malformations 12 50 25
Fraser-Francois Syndrome 50 25
Cryptophthalmos-Syndactyly Syndrome 50
Cryptophthalmos Syndactyly Syndrome 25
Meyer-Schwickerath's Syndrome 50
Meyer-Schwickerath Syndrome 25
Ullrich-Feichtiger Syndrome 25
Ulrich-Feichtiger Syndrome 50
Fraser's Syndrome 25
Cyclopism 50
Frass 71

Characteristics:

OMIM:

54
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 : 50 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.  last updated: 12/7/2016

MalaCards based summary : Fraser Syndrome 1, also known as fraser syndrome, is related to fraser syndrome 3 and fraser syndrome 2, and has symptoms including umbilical hernia, microcephaly and hydrocephalus. An important gene associated with Fraser Syndrome 1 is FRAS1 (Fraser Extracellular Matrix Complex Subunit 1). The drugs Minocycline and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related phenotypes are renal/urinary system and limbs/digits/tail

UniProtKB/Swiss-Prot : 71 Fraser syndrome: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects.

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.

OMIM : 54
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)

Disease Ontology : 12 An autosomal recessive disorder 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 : 72 Fraser syndrome (also known as Meyer-Schwickerath\'s syndrome, Fraser-François syndrome, or... more...

Related Diseases for Fraser Syndrome 1

Diseases in the Fraser Syndrome 1 family:

Fraser Syndrome 3 Fraser Syndrome 2
Fras1-Related Fraser Syndrome Frem2-Related Fraser Syndrome
Grip1-Related Fraser Syndrome

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

(show all 39)
id Related Disease Score Top Affiliating Genes
1 fraser syndrome 3 12.0
2 fraser syndrome 2 12.0
3 sanderson fraser syndrome 11.7
4 fras1-related fraser syndrome 11.7
5 frem2-related fraser syndrome 11.7
6 grip1-related fraser syndrome 11.7
7 cryptophthalmos 11.2
8 oculodentodigital dysplasia 11.2
9 branchiootorenal syndrome 1, with or without cataracts 10.9
10 branchiootorenal syndrome 10.9
11 gnathomiasis 10.9
12 bifid nose with or without anorectal and renal anomalies 10.8
13 branchiootorenal/branchiootic syndrome 10.7
14 deafness, autosomal dominant 68 10.5 FRAS1 FREM2
15 coronary artery disease 10.3 FRAS1 FREM2
16 unilateral congenital megacalycosis 10.2 FRAS1 FREM1 FREM2
17 catsper-related male infertility 10.1 EYA1 SIX5
18 auriculocondylar syndrome 3 10.1 EYA1 SIX5
19 amenorrhea 10.0 EYA1 SIX5
20 laryngitis 10.0
21 cardiomyopathy, dilated, 1j 9.9 EYA1 SIX5
22 holoprosencephaly 9.9
23 cushing syndrome, familial 9.9 FRAS1 FREM1 FREM2 GRIP1
24 simosa craniofacial syndrome 9.8 FRAS1 FREM1 FREM2 GRIP1
25 xanthinuria 9.8 EYA1 SIX5
26 iniencephaly 9.8
27 dracunculiasis 9.8
28 alobar holoprosencephaly 9.8
29 ovarian cyst 9.7
30 encephalocele 9.7
31 cytomegalovirus infection 9.7
32 frontal encephalocele 9.7
33 urethritis 9.7
34 vaginal atresia 9.7
35 vaginitis 9.7
36 autosomal dominant microcephaly 9.6 EYA1 SIX5
37 renal tubular dysgenesis, ren-related 9.6 EYA1 ITGA8
38 cataract 30, pulverulent 7.7 EYA1 FRAS1 FREM1 FREM2 FREM3 GRIP1
39 renal tubular acidosis, proximal, with ocular abnormalities 6.1 EYA1 FRAS1 FREM1 FREM2 FREM3 GRIP1

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:

54

Neurologic- Central Nervous System:
mental retardation
microcephaly
encephalocele
meningomyelocele

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

Genitourinary- Internal Genitalia Male:
hypospadias
cryptorchidism

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

Genitourinary- Internal Genitalia Female:
bicornuate uterus
vaginal atresia

Respiratory- Larynx:
laryngeal stenosis
laryngeal atresia

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

Genitourinary- External Genitalia Female:
clitoral enlargement

Head And Neck- Mouth:
cleft palate
cleft lip

Chest- Breasts:
widely spaced nipples

Skeletal- Limbs:
syndactyly

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)
id Description HPO Frequency HPO Source Accession
1 umbilical hernia 32 occasional (7.5%) HP:0001537
2 microcephaly 32 occasional (7.5%) HP:0000252
3 hydrocephalus 32 HP:0000238
4 low-set ears 32 HP:0000369
5 depressed nasal bridge 32 frequent (33%) HP:0005280
6 ambiguous genitalia 32 frequent (33%) HP:0000062
7 micropenis 32 HP:0000054
8 hypertelorism 32 frequent (33%) HP:0000316
9 cleft palate 32 HP:0000175
10 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089
11 hypospadias 32 occasional (7.5%) HP:0000047
12 microphthalmia 32 frequent (33%) HP:0000568
13 cryptorchidism 32 occasional (7.5%) HP:0000028
14 intellectual disability 32 occasional (7.5%) HP:0001249
15 blindness 32 hallmark (90%) HP:0000618
16 omphalocele 32 occasional (7.5%) HP:0001539
17 wide nasal bridge 32 frequent (33%) HP:0000431
18 absent eyelashes 32 HP:0000561
19 finger syndactyly 32 hallmark (90%) HP:0006101
20 toe syndactyly 32 frequent (33%) HP:0001770
21 bicornuate uterus 32 occasional (7.5%) HP:0000813
22 renal hypoplasia 32 hallmark (90%) HP:0000089
23 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
24 high palate 32 occasional (7.5%) HP:0000218
25 scrotal hypoplasia 32 frequent (33%) HP:0000046
26 dental malocclusion 32 frequent (33%) HP:0000689
27 anophthalmia 32 frequent (33%) HP:0000528
28 difficulty in tongue movements 32 HP:0000183
29 encephalocele 32 occasional (7.5%) HP:0002084
30 cryptophthalmos 32 hallmark (90%) HP:0001126
31 clitoral hypertrophy 32 HP:0008665
32 tracheal stenosis 32 occasional (7.5%) HP:0002777
33 laryngeal stenosis 32 frequent (33%) HP:0001602
34 dental crowding 32 frequent (33%) HP:0000678
35 laryngeal atresia 32 HP:0008750
36 vaginal atresia 32 frequent (33%) HP:0000148
37 wide nose 32 HP:0000445
38 anal stenosis 32 frequent (33%) HP:0002025
39 corneal opacity 32 HP:0007957
40 anal atresia 32 frequent (33%) HP:0002023
41 hypoplastic superior helix 32 HP:0008559
42 wide pubic symphysis 32 frequent (33%) HP:0003183
43 subglottic stenosis 32 occasional (7.5%) HP:0001607
44 abnormal lung lobation 32 occasional (7.5%) HP:0002101
45 choanal stenosis 32 HP:0000452
46 abnormal cortical gyration 32 HP:0002536
47 ectopic anus 32 occasional (7.5%) HP:0004397
48 upper eyelid coloboma 32 HP:0000636
49 myelomeningocele 32 occasional (7.5%) HP:0002475
50 severe t-cell immunodeficiency 32 HP:0005352

MGI Mouse Phenotypes related to Fraser Syndrome 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.86 ITGA8 NPNT EYA1 FRAS1 FREM1 FREM2
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 9.35 EYA1 FRAS1 FREM1 FREM2 HOXD11
5 vision/eye MP:0005391 9.1 EYA1 FRAS1 FREM1 FREM2 GRIP1 SIX5

Drugs & Therapeutics for Fraser Syndrome 1

Drugs for Fraser Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
2
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
3
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
4
Ticlopidine Approved Phase 3 55142-85-3 5472
5 Orange Approved, Nutraceutical Phase 3
6
Clopidogrel Approved, Nutraceutical Phase 3 120202-66-6, 113665-84-2 60606
7 Anti-Bacterial Agents Phase 3
8 Anti-Infective Agents Phase 3
9 Carboxymethylcellulose Sodium Phase 3
10 Analgesics Phase 3
11 Analgesics, Non-Narcotic Phase 3
12 Antacids Phase 3
13 Anti-Inflammatory Agents Phase 3
14 Anti-Inflammatory Agents, Non-Steroidal Phase 3
15 Antipyretics Phase 3
16 Antirheumatic Agents Phase 3
17 Anti-Ulcer Agents Phase 3
18 Cyclooxygenase Inhibitors Phase 3
19 Cytochrome P-450 Enzyme Inhibitors Phase 3
20 Fibrinolytic Agents Phase 3
21 Gastrointestinal Agents Phase 3
22 Neurotransmitter Agents Phase 3
23 Peripheral Nervous System Agents Phase 3
24 Platelet Aggregation Inhibitors Phase 3
25
Proton pump inhibitors Phase 3
26 Purinergic P2 Receptor Antagonists Phase 3
27 Purinergic P2Y Receptor Antagonists Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3 Minocycline;Placebo
2 Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1) Terminated NCT00557921 Phase 3 CGT-2168 (clopidogrel 75 mg/omeprazole 20 mg) and aspirin;Plavix (clopidogrel 75 mg) and aspirin
3 Evaluation of Two Treatments for Chronic Post Concussion Syndrome Terminated NCT00871884 Phase 1, Phase 2
4 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
5 The Use of Texting Messaging to Improve the Hospital-to-community Transition Period in Cardiovascular Disease Patients Completed NCT02336919
6 PRCT: Comparing Two Procedures for Ulno-Carpal Abutment Syndrome. Terminated NCT00564980

Search NIH Clinical Center for Fraser Syndrome 1

Genetic Tests for Fraser Syndrome 1

Genetic tests related to Fraser Syndrome 1:

id Genetic test Affiliating Genes
1 Cryptophthalmos Syndrome 29

Anatomical Context for Fraser Syndrome 1

MalaCards organs/tissues related to Fraser Syndrome 1:

39
Skin, Heart, Kidney, Testes, Trachea, Eye, Tongue

Publications for Fraser Syndrome 1

Articles related to Fraser Syndrome 1:

id Title Authors Year
1
Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele. ( 22730198 )
2012

Variations for Fraser Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Fraser Syndrome 1:

71
id Symbol AA change Variation ID SNP ID
1 FREM2 p.Glu1972Lys VAR_023201

ClinVar genetic disease variations for Fraser Syndrome 1:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 FREM2 NM_207361.5(FREM2): c.5920G> A (p.Glu1974Lys) single nucleotide variant Pathogenic rs121434355 GRCh37 Chromosome 13, 39358846: 39358846
2 FREM2 FREM2, IVS14, G-A, +1 single nucleotide variant Pathogenic
3 FREM2 NM_207361.5(FREM2): c.5914G> A (p.Glu1972Lys) single nucleotide variant Pathogenic rs121434356 GRCh37 Chromosome 13, 39358840: 39358840
4 FRAS1 NM_025074.6(FRAS1): c.8602C> T (p.Gln2868Ter) single nucleotide variant Pathogenic rs120074156 GRCh37 Chromosome 4, 79403116: 79403116
5 FRAS1 NM_025074.6(FRAS1): c.9013C> T (p.Gln3005Ter) single nucleotide variant Pathogenic rs120074157 GRCh37 Chromosome 4, 79418013: 79418013
6 FRAS1 FRAS1, 1-BP INS, 5605T insertion Pathogenic
7 FRAS1 NM_025074.6(FRAS1): c.3799C> T (p.Gln1267Ter) single nucleotide variant Pathogenic rs120074158 GRCh37 Chromosome 4, 79308679: 79308679
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.5419_5424delTTCTCT (p.Phe1807_Ser1808del) deletion Pathogenic rs730882178 GRCh37 Chromosome 4, 79360108: 79360113
10 FRAS1 NM_025074.6(FRAS1): c.6963_6964dupGG (p.Val2322Glyfs) duplication Pathogenic rs730882179 GRCh37 Chromosome 4, 79385671: 79385672
11 FRAS1 NM_025074.6(FRAS1): c.7522+1G> T single nucleotide variant Pathogenic rs730882180 GRCh37 Chromosome 4, 79393485: 79393485
12 GRIP1 NM_021150.3(GRIP1): c.2113+1G> C single nucleotide variant Pathogenic rs397514485 GRCh37 Chromosome 12, 66786456: 66786456
13 GRIP1 NM_021150.3(GRIP1): c.1181_1184delAAGA (p.Lys394Thrfs) deletion Pathogenic rs397514486 GRCh37 Chromosome 12, 66849203: 66849206
14 FRAS1 NM_025074.6(FRAS1): c.1931delG (p.Gly644Valfs) deletion Pathogenic rs794727195 GRCh37 Chromosome 4, 79238633: 79238633
15 FRAS1 NM_025074.6(FRAS1): c.2722+1G> A single nucleotide variant Pathogenic rs794727365 GRCh37 Chromosome 4, 79285209: 79285209
16 FRAS1 NM_025074.6(FRAS1): c.3370dupT (p.Ser1124Phefs) duplication Pathogenic rs797044696 GRCh37 Chromosome 4, 79300957: 79300957
17 FRAS1 NM_025074.6(FRAS1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs377046630 GRCh37 Chromosome 4, 79173606: 79173606
18 FRAS1 NM_025074.6(FRAS1): c.5664_5665+19delinsT indel Pathogenic rs886037766 GRCh38 Chromosome 4, 78441296: 78441316
19 FRAS1 NM_025074.6(FRAS1): c.10287delC (p.Tyr3429Terfs) deletion Pathogenic rs886037765 GRCh38 Chromosome 4, 78515911: 78515911
20 FRAS1 NM_025074.6(FRAS1): c.7551T> A (p.Tyr2517Ter) single nucleotide variant Pathogenic rs745597204 GRCh38 Chromosome 4, 78473466: 78473466
21 FREM2 NM_207361.5(FREM2): c.5954dupT (p.Met1985Ilefs) duplication Pathogenic rs886043213 GRCh37 Chromosome 13, 39358880: 39358880
22 FRAS1 NM_025074.6(FRAS1): c.2719C> T (p.Gln907Ter) single nucleotide variant Pathogenic rs755750961 GRCh38 Chromosome 4, 78364051: 78364051

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:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.56 FREM1 FREM3 HMCN1 NPNT
2 extracellular matrix GO:0031012 9.46 FRAS1 FREM3 HMCN1 NPNT
3 basement membrane GO:0005604 9.1 FRAS1 FREM1 FREM2 FREM3 HMCN1 NPNT
4 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)
id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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