MCID: FRS016
MIFTS: 15

Fraser Syndrome 2

Categories: Genetic diseases, Rare diseases, Eye diseases

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:



External Ids:

OMIM 57 617666
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)

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.

Related Diseases for Fraser Syndrome 2

Diseases in the Fraser-Like Syndrome family:

Fraser Syndrome 1 Fraser Syndrome 2
Fraser Syndrome 3

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

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

Anatomical Context for Fraser Syndrome 2

MalaCards organs/tissues related to Fraser Syndrome 2:

41
Kidney

Publications for Fraser Syndrome 2

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

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....