MCID: FRS015
MIFTS: 17

Fraser Syndrome 3

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Fraser Syndrome 3

MalaCards integrated aliases for Fraser Syndrome 3:

Name: Fraser Syndrome 3 57 75 29 6
Frasrs3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617667
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)

MalaCards based summary : Fraser Syndrome 3, is also known as frasrs3. An important gene associated with Fraser Syndrome 3 is GRIP1 (Glutamate Receptor Interacting Protein 1). Affiliated tissues include lung and kidney.

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Fraser Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
micrognathia

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

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis

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

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

Anatomical Context for Fraser Syndrome 3

MalaCards organs/tissues related to Fraser Syndrome 3:

41
Lung, Kidney

Publications for Fraser Syndrome 3

Variations for Fraser Syndrome 3

ClinVar genetic disease variations for Fraser Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIP1 NM_021150.3(GRIP1): c.2113+1G> C single nucleotide variant Pathogenic rs397514485 GRCh37 Chromosome 12, 66786456: 66786456
2 GRIP1 NM_021150.3(GRIP1): c.2113+1G> C single nucleotide variant Pathogenic rs397514485 GRCh38 Chromosome 12, 66392676: 66392676
3 GRIP1 NM_021150.3(GRIP1): c.1181_1184delAAGA (p.Lys394Thrfs) deletion Pathogenic rs397514486 GRCh37 Chromosome 12, 66849203: 66849206
4 GRIP1 NM_021150.3(GRIP1): c.1181_1184delAAGA (p.Lys394Thrfs) deletion Pathogenic rs397514486 GRCh38 Chromosome 12, 66455423: 66455426

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

Sources for Fraser Syndrome 3

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....