FRASRS2
MCID: FRS016
MIFTS: 31

Fraser Syndrome 2 (FRASRS2)

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

Aliases & Classifications for Fraser Syndrome 2

MalaCards integrated aliases for Fraser Syndrome 2:

Name: Fraser Syndrome 2 57 12 72 29 6 15
Frasrs2 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fraser syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111407
OMIM® 57 617666
OMIM Phenotypic Series 57 PS219000
MeSH 44 D058497

Summaries for Fraser Syndrome 2

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). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000. (617666) (Updated 05-Apr-2021)

MalaCards based summary : Fraser Syndrome 2, also known as frasrs2, is related to congenital symblepharon and partial cryptophthalmia. An important gene associated with Fraser Syndrome 2 is FREM2 (FRAS1 Related Extracellular Matrix 2). Affiliated tissues include kidney and eye, and related phenotypes are short thorax and narrow mouth

Disease Ontology : 12 A Fraser syndrome that has material basis in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3.

UniProtKB/Swiss-Prot : 72 Fraser syndrome 2: 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.

Related Diseases for Fraser Syndrome 2

Diseases in the Fraser-Like Syndrome family:

Fraser Syndrome 1 Fraser Syndrome 2
Fraser Syndrome 3

Diseases related to Fraser Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital symblepharon 9.6 FREM2 EGR1
2 partial cryptophthalmia 9.6 FREM2 EGR1
3 cryptophthalmos, unilateral or bilateral, isolated 9.5 FREM2 EGR1

Symptoms & Phenotypes for Fraser Syndrome 2

Human phenotypes related to Fraser Syndrome 2:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 short thorax 31 HP:0010306
2 narrow mouth 31 HP:0000160
3 renal hypoplasia 31 HP:0000089
4 ambiguous genitalia 31 HP:0000062
5 underdeveloped nasal alae 31 HP:0000430
6 renal agenesis 31 HP:0000104
7 abdominal distention 31 HP:0003270
8 cryptophthalmos 31 HP:0001126
9 aplasia of the bladder 31 HP:0010477
10 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Chest External Features:
short thorax

Genitourinary External Genitalia Female:
ambiguous genitalia

Skeletal Hands:
cutaneous syndactyly

Head And Neck Mouth:
small mouth

Genitourinary Kidneys:
absent kidney
hypoplastic kidney

Abdomen External Features:
abdominal distension

Head And Neck Face:
abnormally low hairline

Genitourinary External Genitalia Male:
ambiguous genitalia

Head And Neck Eyes:
cryptophthalmos

Skeletal Feet:
cutaneous syndactyly

Head And Neck Nose:
hypoplastic alae nasi

Genitourinary Bladder:
absent bladder

Genitourinary Ureters:
absent ureter
ureter directly connected to vagina

Genitourinary Internal Genitalia Female:
dilated vagina

Clinical features from OMIM®:

617666 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Fraser Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 EGR1 FREM2

Drugs & Therapeutics for Fraser Syndrome 2

Search Clinical Trials , NIH Clinical Center for Fraser Syndrome 2

Genetic Tests for Fraser Syndrome 2

Genetic tests related to Fraser Syndrome 2:

# Genetic test Affiliating Genes
1 Fraser Syndrome 2 29 FREM2

Anatomical Context for Fraser Syndrome 2

MalaCards organs/tissues related to Fraser Syndrome 2:

40
Kidney, Eye

Publications for Fraser Syndrome 2

Articles related to Fraser Syndrome 2:

# Title Authors PMID Year
1
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. 57 6
29688405 2018
2
Molecular study of 33 families with Fraser syndrome new data and mutation review. 57 6
18671281 2008
3
Fraser syndrome due to homozygosity for a splice site mutation of FREM2. 6 57
18203166 2008
4
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. 57 6
15838507 2005
5
Loss-of-function mutations in FREM2 disrupt eye morphogenesis. 6
30802441 2019
6
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. 57
16880404 2006

Variations for Fraser Syndrome 2

ClinVar genetic disease variations for Fraser Syndrome 2:

6 (show top 50) (show all 361)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FREM2 NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys) SNV Pathogenic 1985 rs121434355 GRCh37: 13:39358846-39358846
GRCh38: 13:38784709-38784709
2 FREM2 NM_207361.6(FREM2):c.7519+1G>A SNV Pathogenic 1986 rs1566169711 GRCh37: 13:39433728-39433728
GRCh38: 13:38859591-38859591
3 FREM2 NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs) Deletion Pathogenic 522531 rs1555261304 GRCh37: 13:39264583-39264584
GRCh38: 13:38690446-38690447
4 FREM2 NM_207361.6(FREM2):c.3890del (p.Ile1297fs) Deletion Pathogenic 522532 rs776269575 GRCh37: 13:39265371-39265371
GRCh38: 13:38691234-38691234
5 FREM2 NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) SNV Pathogenic 284704 rs114837786 GRCh37: 13:39424294-39424294
GRCh38: 13:38850157-38850157
6 FREM2 NM_207361.6(FREM2):c.15del (p.Thr6fs) Deletion Pathogenic 625181 GRCh37: 13:39261494-39261494
GRCh38: 13:38687357-38687357
7 FREM2 NM_207361.6(FREM2):c.1266del (p.Asp423fs) Deletion Pathogenic 916635 GRCh37: 13:39262747-39262747
GRCh38: 13:38688610-38688610
8 FREM2 NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs) Indel Pathogenic 916636 GRCh37: 13:39422614-39422616
GRCh38: 13:38848477-38848479
9 FREM2 NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter) SNV Pathogenic 916648 GRCh37: 13:39263411-39263411
GRCh38: 13:38689274-38689274
10 FREM2 NM_207361.6(FREM2):c.399del (p.Gly134fs) Deletion Pathogenic 916649 GRCh37: 13:39261880-39261880
GRCh38: 13:38687743-38687743
11 FREM2 NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) Duplication Pathogenic 983512 GRCh37: 13:39266642-39266643
GRCh38: 13:38692505-38692506
12 FREM2 NM_207361.6(FREM2):c.750_751dup (p.Thr251fs) Microsatellite Pathogenic 983513 GRCh37: 13:39262228-39262229
GRCh38: 13:38688091-38688092
13 FREM2 NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly) SNV Likely pathogenic 916634 GRCh37: 13:39266019-39266019
GRCh38: 13:38691882-38691882
14 FREM2 NM_207361.6(FREM2):c.2580T>C (p.Asp860=) SNV Uncertain significance 883377 GRCh37: 13:39264061-39264061
GRCh38: 13:38689924-38689924
15 FREM2 NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser) SNV Uncertain significance 702800 rs143576067 GRCh37: 13:39425177-39425177
GRCh38: 13:38851040-38851040
16 FREM2 NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser) SNV Uncertain significance 883565 GRCh37: 13:39438633-39438633
GRCh38: 13:38864496-38864496
17 FREM2 NM_207361.6(FREM2):c.8172T>A (p.Leu2724=) SNV Uncertain significance 883566 GRCh37: 13:39447067-39447067
GRCh38: 13:38872930-38872930
18 FREM2 NM_207361.6(FREM2):c.*174C>G SNV Uncertain significance 883604 GRCh37: 13:39455098-39455098
GRCh38: 13:38880961-38880961
19 FREM2 NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) SNV Uncertain significance 193530 rs139804851 GRCh37: 13:39263061-39263061
GRCh38: 13:38688924-38688924
20 FREM2 NM_207361.6(FREM2):c.4558C>T (p.Arg1520Trp) SNV Uncertain significance 311978 rs142322683 GRCh37: 13:39266039-39266039
GRCh38: 13:38691902-38691902
21 FREM2 NM_207361.6(FREM2):c.7216-5C>T SNV Uncertain significance 312015 rs534318261 GRCh37: 13:39433419-39433419
GRCh38: 13:38859282-38859282
22 FREM2 NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln) SNV Uncertain significance 883419 GRCh37: 13:39265653-39265653
GRCh38: 13:38691516-38691516
23 FREM2 NM_207361.6(FREM2):c.4309G>A (p.Val1437Ile) SNV Uncertain significance 883420 GRCh37: 13:39265790-39265790
GRCh38: 13:38691653-38691653
24 FREM2 NM_207361.6(FREM2):c.5378G>A (p.Arg1793His) SNV Uncertain significance 883468 GRCh37: 13:39338555-39338555
GRCh38: 13:38764418-38764418
25 FREM2 NM_207361.6(FREM2):c.5410+11T>A SNV Uncertain significance 883469 GRCh37: 13:39338598-39338598
GRCh38: 13:38764461-38764461
26 FREM2 NM_207361.6(FREM2):c.5494C>A (p.Gln1832Lys) SNV Uncertain significance 883470 GRCh37: 13:39343798-39343798
GRCh38: 13:38769661-38769661
27 FREM2 NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) SNV Uncertain significance 883515 GRCh37: 13:39422795-39422795
GRCh38: 13:38848658-38848658
28 FREM2 NM_207361.6(FREM2):c.6380-15C>G SNV Uncertain significance 883516 GRCh37: 13:39424160-39424160
GRCh38: 13:38850023-38850023
29 FREM2 NM_207361.6(FREM2):c.*224G>A SNV Uncertain significance 883606 GRCh37: 13:39455148-39455148
GRCh38: 13:38881011-38881011
30 FREM2 NM_207361.6(FREM2):c.*294G>T SNV Uncertain significance 883607 GRCh37: 13:39455218-39455218
GRCh38: 13:38881081-38881081
31 FREM2 NM_207361.6(FREM2):c.*1695T>C SNV Uncertain significance 883652 GRCh37: 13:39456619-39456619
GRCh38: 13:38882482-38882482
32 FREM2 NM_207361.6(FREM2):c.*1797C>T SNV Uncertain significance 883653 GRCh37: 13:39456721-39456721
GRCh38: 13:38882584-38882584
33 FREM2 NM_207361.6(FREM2):c.*3487A>C SNV Uncertain significance 883705 GRCh37: 13:39458411-39458411
GRCh38: 13:38884274-38884274
34 FREM2 NM_207361.6(FREM2):c.*3553C>T SNV Uncertain significance 883706 GRCh37: 13:39458477-39458477
GRCh38: 13:38884340-38884340
35 FREM2 NM_207361.6(FREM2):c.*3650A>G SNV Uncertain significance 883707 GRCh37: 13:39458574-39458574
GRCh38: 13:38884437-38884437
36 FREM2 NM_207361.6(FREM2):c.*4141T>G SNV Uncertain significance 883708 GRCh37: 13:39459065-39459065
GRCh38: 13:38884928-38884928
37 FREM2 NM_207361.6(FREM2):c.*5614G>T SNV Uncertain significance 883762 GRCh37: 13:39460538-39460538
GRCh38: 13:38886401-38886401
38 FREM2 NM_207361.6(FREM2):c.*5616T>A SNV Uncertain significance 883763 GRCh37: 13:39460540-39460540
GRCh38: 13:38886403-38886403
39 FREM2 NM_207361.6(FREM2):c.*5640C>T SNV Uncertain significance 883764 GRCh37: 13:39460564-39460564
GRCh38: 13:38886427-38886427
40 FREM2 NM_207361.6(FREM2):c.-33A>G SNV Uncertain significance 884194 GRCh37: 13:39261449-39261449
GRCh38: 13:38687312-38687312
41 FREM2 NM_207361.6(FREM2):c.65C>T (p.Pro22Leu) SNV Uncertain significance 884195 GRCh37: 13:39261546-39261546
GRCh38: 13:38687409-38687409
42 FREM2 NM_207361.6(FREM2):c.109C>T (p.Leu37Phe) SNV Uncertain significance 703191 rs183560588 GRCh37: 13:39261590-39261590
GRCh38: 13:38687453-38687453
43 FREM2 NM_207361.6(FREM2):c.6017A>T (p.Asp2006Val) SNV Uncertain significance 1029536 GRCh37: 13:39358943-39358943
GRCh38: 13:38784806-38784806
44 FREM2 NM_207361.6(FREM2):c.8855T>C (p.Ile2952Thr) SNV Uncertain significance 1029537 GRCh37: 13:39452454-39452454
GRCh38: 13:38878317-38878317
45 FREM2 NM_207361.6(FREM2):c.6101G>T (p.Gly2034Val) SNV Uncertain significance 1033702 GRCh37: 13:39420791-39420791
GRCh38: 13:38846654-38846654
46 FREM2 NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) SNV Uncertain significance 631701 rs750020230 GRCh37: 13:39264089-39264089
GRCh38: 13:38689952-38689952
47 FREM2 NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter) SNV Uncertain significance 631702 rs148965852 GRCh37: 13:39266540-39266540
GRCh38: 13:38692403-38692403
48 FREM2 NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) SNV Uncertain significance 548551 rs767743882 GRCh37: 13:39343807-39343807
GRCh38: 13:38769670-38769670
49 FREM2 NM_207361.6(FREM2):c.38G>A (p.Arg13Gln) SNV Uncertain significance 286386 rs765718616 GRCh37: 13:39261519-39261519
GRCh38: 13:38687382-38687382
50 FREM2 NM_207361.6(FREM2):c.3737C>T (p.Thr1246Met) SNV Uncertain significance 311965 rs201865313 GRCh37: 13:39265218-39265218
GRCh38: 13:38691081-38691081

UniProtKB/Swiss-Prot genetic disease variations for Fraser Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 FREM2 p.Glu1972Lys VAR_023201 rs121434356
2 FREM2 p.Arg2167Trp VAR_082584 rs114837786

Expression for Fraser Syndrome 2

Search GEO for disease gene expression data for Fraser Syndrome 2.

Pathways for Fraser Syndrome 2

GO Terms for Fraser Syndrome 2

Sources for Fraser Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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