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

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Aliases & Classifications for Fraser Syndrome 2

MalaCards integrated aliases for Fraser Syndrome 2:

Name: Fraser Syndrome 2 ⁵⁷ ⁷⁵ ²⁹ ⁶

Frasrs2 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617666

MedGen ⁴² C4540036 CN464191

MeSH ⁴⁴ D058497

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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)

MalaCards based summary : Fraser Syndrome 2, is also known as frasrs2. An important gene associated with Fraser Syndrome 2 is FREM2 (FRAS1 Related Extracellular Matrix Protein 2). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : ⁷⁵ 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

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Symptoms & Phenotypes for Fraser Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Face:
abnormally low hairline

Head And Neck Nose:
hypoplastic alae nasi

Chest External Features:
short thorax

Genitourinary External Genitalia Male:
ambiguous genitalia

Genitourinary Internal Genitalia Female:
dilated vagina

Genitourinary Ureters:
absent ureter
ureter directly connected to vagina

Skeletal Hands:
cutaneous syndactyly

Head And Neck Eyes:
cryptophthalmos

Head And Neck Mouth:
small mouth

Abdomen External Features:
abdominal distension

Genitourinary External Genitalia Female:
ambiguous genitalia

Genitourinary Kidneys:
absent kidney
hypoplastic kidney

Genitourinary Bladder:
absent bladder

Skeletal Feet:
cutaneous syndactyly

Clinical features from OMIM:

617666

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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

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Anatomical Context for Fraser Syndrome 2

MalaCards organs/tissues related to Fraser Syndrome 2:

⁴¹

Kidney

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Publications for Fraser Syndrome 2

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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	PubmedIds
1	FREM2	FRAS1 Related Extracellular Matrix Protein 2	Protein Coding	1227.18	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	18203166 15838507 18671281

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Variations for Fraser Syndrome 2

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

⁷⁵

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

ClinVar genetic disease variations for Fraser Syndrome 2:

⁶

#	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	NM_207361.5(FREM2): c.5920G> A (p.Glu1974Lys)	single nucleotide variant	Pathogenic	rs121434355	GRCh38	Chromosome 13, 38784709: 38784709
3	FREM2	FREM2, IVS14DS, G-A, +1	single nucleotide variant	Pathogenic
4	FREM2	NM_207361.5(FREM2): c.3103_3104delAG (p.Leu1036Valfs)	deletion	Pathogenic		GRCh37	Chromosome 13, 39264584: 39264585
5	FREM2	NM_207361.5(FREM2): c.3103_3104delAG (p.Leu1036Valfs)	deletion	Pathogenic		GRCh38	Chromosome 13, 38690447: 38690448
6	FREM2	NM_207361.5(FREM2): c.3890delT (p.Ile1297Thrfs)	deletion	Pathogenic	rs776269575	GRCh37	Chromosome 13, 39265371: 39265371
7	FREM2	NM_207361.5(FREM2): c.3890delT (p.Ile1297Thrfs)	deletion	Pathogenic	rs776269575	GRCh38	Chromosome 13, 38691234: 38691234

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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

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Sources for Fraser Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia