FRASRS3
MCID: FRS015
MIFTS: 33

Fraser Syndrome 3 (FRASRS3)

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

Aliases & Classifications for Fraser Syndrome 3

MalaCards integrated aliases for Fraser Syndrome 3:

Name: Fraser Syndrome 3 57 12 72 29 6
Frasrs3 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
based on a report of 2 stillborn male fetuses (last curated september 2017)


HPO:

31
fraser syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111406
OMIM® 57 617667
OMIM Phenotypic Series 57 PS219000
MeSH 44 D058497

Summaries for Fraser Syndrome 3

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. (617667) (Updated 05-Apr-2021)

MalaCards based summary : Fraser Syndrome 3, also known as frasrs3, is related to chromosome 2q35 duplication syndrome and fraser syndrome 1. An important gene associated with Fraser Syndrome 3 is GRIP1 (Glutamate Receptor Interacting Protein 1). Affiliated tissues include lung, and related phenotypes are hydrops fetalis and micrognathia

Disease Ontology : 12 A Fraser syndrome that has material basis in homozygous or compound heterozygous mutation in GRIP1 on chromosome 12q14.3.

UniProtKB/Swiss-Prot : 72 Fraser syndrome 3: 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 3

Diseases in the Fraser-Like Syndrome family:

Fraser Syndrome 1 Fraser Syndrome 2
Fraser Syndrome 3

Diseases related to Fraser Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 10.0
2 fraser syndrome 1 10.0
3 cryptophthalmos 10.0
4 cryptophthalmia 10.0
5 developmental and epileptic encephalopathy 24 9.9 SPATA22 ASPA
6 canavan disease 9.8 SPATA22 ASPA

Graphical network of the top 20 diseases related to Fraser Syndrome 3:



Diseases related to Fraser Syndrome 3

Symptoms & Phenotypes for Fraser Syndrome 3

Human phenotypes related to Fraser Syndrome 3:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hydrops fetalis 31 HP:0001789
2 micrognathia 31 HP:0000347
3 short toe 31 HP:0001831
4 convex nasal ridge 31 HP:0000444
5 wide nose 31 HP:0000445
6 scrotal hypoplasia 31 HP:0000046
7 abnormal lung lobation 31 HP:0002101
8 tracheal atresia 31 HP:0100682
9 cryptophthalmos 31 HP:0001126
10 hypoplasia of the bladder 31 HP:0005343
11 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Prenatal Manifestations:
hydrops fetalis

Respiratory Lung:
abnormal lung lobation
pulmonary hyperplasia
hyperechogenic lungs seen on prenatal ultrasound

Head And Neck Nose:
beaked nose
broad nose
notched alae nasi

Genitourinary External Genitalia Male:
hypoplastic scrotum
malformed penis
hypoplastic penis

Skeletal Feet:
short toes
cutaneous syndactyly, partial bilateral

Respiratory Larynx:
malformed larynx

Head And Neck Ears:
low-set simple ears

Abdomen Gastrointestinal:
abnormally positioned anus

Head And Neck Mouth:
micrognathia

Respiratory Airways:
tracheal atresia

Skeletal Hands:
short fingers
cutaneous syndactyly, partial bilateral

Genitourinary Kidneys:
absent kidneys

Genitourinary Bladder:
hypoplastic bladder

Head And Neck Face:
abnormal frontal hairline

Head And Neck Eyes:
cryptophthalmos, bilateral
abnormal anterior chamber
normal retinal pigment epithelium

Clinical features from OMIM®:

617667 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Fraser Syndrome 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 ADAMTS14 AIPL1 ASPA BCLAF1 GNB5 GRIP1

Drugs & Therapeutics for Fraser Syndrome 3

Search Clinical Trials , NIH Clinical Center for Fraser Syndrome 3

Genetic Tests for Fraser Syndrome 3

Genetic tests related to Fraser Syndrome 3:

# Genetic test Affiliating Genes
1 Fraser Syndrome 3 29 GRIP1

Anatomical Context for Fraser Syndrome 3

MalaCards organs/tissues related to Fraser Syndrome 3:

40
Lung

Publications for Fraser Syndrome 3

Articles related to Fraser Syndrome 3:

# Title Authors PMID Year
1
Mutations in GRIP1 cause Fraser syndrome. 6 57
22510445 2012
2
Molecular study of 33 families with Fraser syndrome new data and mutation review. 57
18671281 2008
3
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. 57
16880404 2006
4
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 57
14730302 2004
5
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1. 61
33709629 2021

Variations for Fraser Syndrome 3

ClinVar genetic disease variations for Fraser Syndrome 3:

6 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIP1 NM_001366722.1(GRIP1):c.2269+1G>C SNV Pathogenic 36970 rs397514485 GRCh37: 12:66786456-66786456
GRCh38: 12:66392676-66392676
2 GRIP1 NM_001366722.1(GRIP1):c.1333_1336AAGA[1] (p.Lys446fs) Microsatellite Pathogenic 36971 rs397514486 GRCh37: 12:66849203-66849206
GRCh38: 12:66455423-66455426
3 GRIP1 NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter) SNV Pathogenic 974698 GRCh37: 12:66800117-66800117
GRCh38: 12:66406337-66406337
4 GRIP1 NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) SNV Conflicting interpretations of pathogenicity 402210 rs199768740 GRCh37: 12:66935707-66935707
GRCh38: 12:66541927-66541927
5 ADAMTS14 NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys) SNV Uncertain significance 974699 GRCh37: 10:72493750-72493750
GRCh38: 10:70733994-70733994
6 PTCH1 NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) SNV Uncertain significance 237484 rs200029534 GRCh37: 9:98211514-98211514
GRCh38: 9:95449232-95449232
7 TLCD3A NM_024792.3(TLCD3A):c.263C>T (p.Ser88Leu) SNV Uncertain significance 974700 GRCh37: 17:641142-641142
GRCh38: 17:737902-737902
8 BORCS6 NM_017622.3(BORCS6):c.326G>C (p.Arg109Pro) SNV Uncertain significance 974701 GRCh37: 17:8093133-8093133
GRCh38: 17:8189815-8189815
9 AIPL1 NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln) SNV Uncertain significance 974702 GRCh37: 17:6329946-6329946
GRCh38: 17:6426626-6426626
10 ASPA , SPATA22 NM_000049.4(ASPA):c.806C>T (p.Thr269Met) SNV Uncertain significance 974703 GRCh37: 17:3402246-3402246
GRCh38: 17:3498952-3498952
11 WDR81 NM_001163809.2(WDR81):c.682C>T (p.Pro228Ser) SNV Uncertain significance 974704 GRCh37: 17:1628935-1628935
GRCh38: 17:1725641-1725641
12 ZXDA NC_000023.11:g.57910017_57910018del Deletion Uncertain significance 974705 GRCh37: X:57936451-57936452
GRCh38: X:57910017-57910018
13 MYO18B NM_032608.7(MYO18B):c.6671C>A (p.Ala2224Asp) SNV Uncertain significance 974706 GRCh37: 22:26422611-26422611
GRCh38: 22:26026645-26026645
14 ODAD1 NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) SNV Uncertain significance 262501 rs367799104 GRCh37: 19:48809552-48809552
GRCh38: 19:48306295-48306295
15 GRIP1 NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) SNV Uncertain significance 265191 rs189438534 GRCh37: 12:66826340-66826340
GRCh38: 12:66432560-66432560
16 GRIP1 NM_001366722.1(GRIP1):c.*1262T>A SNV Uncertain significance 310276 rs886049791 GRCh37: 12:66741537-66741537
GRCh38: 12:66347757-66347757
17 GRIP1 NM_001366722.1(GRIP1):c.1688-6T>C SNV Uncertain significance 755754 rs111776176 GRCh37: 12:66826414-66826414
GRCh38: 12:66432634-66432634
18 GRIP1 NM_001366722.1(GRIP1):c.236G>A (p.Arg79Lys) SNV Uncertain significance 883643 GRCh37: 12:66935631-66935631
GRCh38: 12:66541851-66541851
19 GRIP1 NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu) SNV Uncertain significance 931511 GRCh37: 12:66786129-66786129
GRCh38: 12:66392349-66392349
20 MED23 NM_004830.4(MED23):c.3545A>C (p.Glu1182Ala) SNV Uncertain significance 974693 GRCh37: 6:131912594-131912594
GRCh38: 6:131591454-131591454
21 BCLAF1 NM_014739.3(BCLAF1):c.-114-2_-114-1insC Insertion Uncertain significance 974694 GRCh37: 6:136603826-136603827
GRCh38: 6:136282688-136282689
22 MPC1 NM_016098.4(MPC1):c.301C>T (p.His101Tyr) SNV Uncertain significance 974695 GRCh37: 6:166779466-166779466
GRCh38: 6:166365978-166365978
23 LSM10 NM_032881.3(LSM10):c.112G>A (p.Val38Met) SNV Uncertain significance 974696 GRCh37: 1:36859619-36859619
GRCh38: 1:36394018-36394018
24 GNB5 NM_016194.4(GNB5):c.391G>A (p.Val131Met) SNV Uncertain significance 974697 GRCh37: 15:52442107-52442107
GRCh38: 15:52149910-52149910
25 GRIP1 NM_001366722.1(GRIP1):c.3048T>C (p.Phe1016=) SNV Uncertain significance 310298 rs372970620 GRCh37: 12:66747308-66747308
GRCh38: 12:66353528-66353528
26 GRIP1 NM_001366722.1(GRIP1):c.2793G>A (p.Ser931=) SNV Uncertain significance 310301 rs371224677 GRCh37: 12:66765693-66765693
GRCh38: 12:66371913-66371913
27 GRIP1 NM_001366722.1(GRIP1):c.240A>G (p.Val80=) SNV Uncertain significance 310315 rs886049799 GRCh37: 12:66935627-66935627
GRCh38: 12:66541847-66541847
28 GRIP1 NM_001366722.1(GRIP1):c.*930T>A SNV Uncertain significance 310278 rs138773990 GRCh37: 12:66741869-66741869
GRCh38: 12:66348089-66348089
29 GRIP1 NM_001366722.1(GRIP1):c.*1328G>A SNV Uncertain significance 310271 rs886049790 GRCh37: 12:66741471-66741471
GRCh38: 12:66347691-66347691
30 GRIP1 NM_001366722.1(GRIP1):c.872+7A>G SNV Uncertain significance 310311 rs886049798 GRCh37: 12:66859048-66859048
GRCh38: 12:66465268-66465268
31 GRIP1 NM_001366722.1(GRIP1):c.*1287A>T SNV Uncertain significance 310274 rs544816589 GRCh37: 12:66741512-66741512
GRCh38: 12:66347732-66347732
32 GRIP1 NM_001366722.1(GRIP1):c.*138C>T SNV Uncertain significance 310296 rs191549204 GRCh37: 12:66742661-66742661
GRCh38: 12:66348881-66348881
33 GRIP1 NM_001366722.1(GRIP1):c.*417G>A SNV Uncertain significance 310293 rs886049795 GRCh37: 12:66742382-66742382
GRCh38: 12:66348602-66348602
34 GRIP1 NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) SNV Uncertain significance 310299 rs540468070 GRCh37: 12:66765601-66765601
GRCh38: 12:66371821-66371821
35 GRIP1 NM_001366722.1(GRIP1):c.*716T>C SNV Uncertain significance 310285 rs531925092 GRCh37: 12:66742083-66742083
GRCh38: 12:66348303-66348303
36 GRIP1 NM_001366722.1(GRIP1):c.1583A>G (p.Asn528Ser) SNV Uncertain significance 310307 rs374486330 GRCh37: 12:66838468-66838468
GRCh38: 12:66444688-66444688
37 GRIP1 NM_001366722.1(GRIP1):c.2870G>A (p.Arg957His) SNV Uncertain significance 310300 rs202030145 GRCh37: 12:66765616-66765616
GRCh38: 12:66371836-66371836
38 GRIP1 NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) SNV Uncertain significance 198899 rs201673783 GRCh37: 12:66859110-66859110
GRCh38: 12:66465330-66465330
39 GRIP1 NM_001366722.1(GRIP1):c.553G>A (p.Val185Ile) SNV Uncertain significance 310312 rs754804786 GRCh37: 12:66911706-66911706
GRCh38: 12:66517926-66517926
40 GRIP1 NM_001366722.1(GRIP1):c.*821T>G SNV Uncertain significance 310280 rs867272684 GRCh37: 12:66741978-66741978
GRCh38: 12:66348198-66348198
41 GRIP1 NM_001366722.1(GRIP1):c.*235G>T SNV Uncertain significance 310294 rs886049796 GRCh37: 12:66742564-66742564
GRCh38: 12:66348784-66348784
42 GRIP1 NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) SNV Uncertain significance 310302 rs760273176 GRCh37: 12:66773123-66773123
GRCh38: 12:66379343-66379343
43 GRIP1 NM_001366722.1(GRIP1):c.270T>C (p.Ala90=) SNV Uncertain significance 310314 rs867711989 GRCh37: 12:66935597-66935597
GRCh38: 12:66541817-66541817
44 GRIP1 NM_001366722.1(GRIP1):c.-165A>C SNV Uncertain significance 310317 rs566069611 GRCh37: 12:67072849-67072849
GRCh38: 12:66679069-66679069
45 GRIP1 NM_001366722.1(GRIP1):c.345C>T (p.Asp115=) SNV Uncertain significance 310313 rs760613522 GRCh37: 12:66932931-66932931
GRCh38: 12:66539151-66539151
46 GRIP1 NM_001366722.1(GRIP1):c.*915T>C SNV Uncertain significance 310279 rs886049792 GRCh37: 12:66741884-66741884
GRCh38: 12:66348104-66348104
47 GRIP1 NM_001366722.1(GRIP1):c.-158G>A SNV Uncertain significance 310316 rs559798312 GRCh37: 12:67072842-67072842
GRCh38: 12:66679062-66679062
48 GRIP1 NM_001366722.1(GRIP1):c.-172A>G SNV Uncertain significance 310318 rs188800373 GRCh37: 12:67072856-67072856
GRCh38: 12:66679076-66679076
49 GRIP1 NM_001366722.1(GRIP1):c.92A>G (p.Lys31Arg) SNV Uncertain significance 881294 GRCh37: 12:66990671-66990671
GRCh38: 12:66596891-66596891
50 GRIP1 NM_001366722.1(GRIP1):c.*1511G>A SNV Uncertain significance 881608 GRCh37: 12:66741288-66741288
GRCh38: 12:66347508-66347508

Expression for Fraser Syndrome 3

Search GEO for disease gene expression data for Fraser Syndrome 3.

Pathways for Fraser Syndrome 3

GO Terms for Fraser Syndrome 3

Cellular components related to Fraser Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.62 MED23 BCLAF1

Molecular functions related to Fraser Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 ZXDA WDR81 TLCD3A SPATA22 PTCH1 ODAD1

Sources for Fraser Syndrome 3

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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