Fraser Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FRASRS2 MCID: FRS016 MIFTS: 31	Fraser Syndrome 2 (FRASRS2) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Nephrological diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111407

OMIM® ⁵⁷ 617666

OMIM Phenotypic Series ⁵⁷ PS219000

MeSH ⁴⁴ D058497

MedGen ⁴¹ C4540036 CN464191

SNOMED-CT via HPO ⁶⁸ 14582003 204942005 21321009 more

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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.

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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

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Symptoms & Phenotypes for Fraser Syndrome 2

Human phenotypes related to Fraser Syndrome 2:

³¹ (show all 10)

#	Description	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

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Drugs & Therapeutics for Fraser Syndrome 2

Search Clinical Trials , NIH Clinical Center for Fraser Syndrome 2

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Genetic Tests for Fraser Syndrome 2

Genetic tests related to Fraser Syndrome 2:

#	Genetic test	Affiliating Genes
1	Fraser Syndrome 2 ²⁹	FREM2

Sources

Anatomical Context for Fraser Syndrome 2

MalaCards organs/tissues related to Fraser Syndrome 2:

⁴⁰

Kidney, Eye

Sources

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	Yu Q...Xie Z	29688405	2018
2	Molecular study of 33 families with Fraser syndrome new data and mutation review. ⁵⁷ ⁶	van Haelst MM...Scambler PJ	18671281	2008
3	Fraser syndrome due to homozygosity for a splice site mutation of FREM2. ⁶ ⁵⁷	Shafeghati Y...Zenker M	18203166	2008
4	Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. ⁵⁷ ⁶	Jadeja S...Scambler PJ	15838507	2005
5	Loss-of-function mutations in FREM2 disrupt eye morphogenesis. ⁶	Zhang X...Lin H	30802441	2019
6	Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. ⁵⁷	Kiyozumi D...Sekiguchi K	16880404	2006

Sources

Genes for Fraser Syndrome 2

Genes related to Fraser Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FREM2	FRAS1 Related Extracellular Matrix 2	Protein Coding	1344.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15838507 18671281 29688405
2	EGR1	Early Growth Response 1	Protein Coding	5.28	DISEASES inferred ¹⁵

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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

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Expression for Fraser Syndrome 2

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

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Pathways for Fraser Syndrome 2

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GO Terms for Fraser Syndrome 2

Sources

Sources for Fraser Syndrome 2

¹ BioSystems

² BitterDB

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³³ ICD10 via Orphanet

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⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁶⁷ SNOMED-CT

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Fraser Syndrome 2 (FRASRS2)

Aliases & Classifications for Fraser Syndrome 2

MalaCards integrated aliases for Fraser Syndrome 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Fraser Syndrome 2

Related Diseases for Fraser Syndrome 2

Diseases in the Fraser-Like Syndrome family:

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

Symptoms & Phenotypes for Fraser Syndrome 2

Human phenotypes related to Fraser Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Fraser Syndrome 2:

Drugs & Therapeutics for Fraser Syndrome 2

Genetic Tests for Fraser Syndrome 2

Genetic tests related to Fraser Syndrome 2:

Anatomical Context for Fraser Syndrome 2

MalaCards organs/tissues related to Fraser Syndrome 2:

Publications for Fraser Syndrome 2

Articles related to Fraser Syndrome 2:

Genes for Fraser Syndrome 2

Genes related to Fraser Syndrome 2 (1 elite genes):

Variations for Fraser Syndrome 2

ClinVar genetic disease variations for Fraser Syndrome 2:

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

Expression for Fraser Syndrome 2

Pathways for Fraser Syndrome 2

GO Terms for Fraser Syndrome 2

Sources for Fraser Syndrome 2