MCID: FRM011
MIFTS: 9

Frem1 Autosomal Recessive Disorders

Aliases & Classifications for Frem1 Autosomal Recessive Disorders

MalaCards integrated aliases for Frem1 Autosomal Recessive Disorders:

Name: Frem1 Autosomal Recessive Disorders 24

Summaries for Frem1 Autosomal Recessive Disorders

MalaCards based summary : Frem1 Autosomal Recessive Disorders is related to anorectal anomalies and renal hypodysplasia/aplasia 1. An important gene associated with Frem1 Autosomal Recessive Disorders is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include kidney.

GeneReviews: NBK1728

Related Diseases for Frem1 Autosomal Recessive Disorders

Diseases related to Frem1 Autosomal Recessive Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 anorectal anomalies 10.2
2 renal hypodysplasia/aplasia 1 10.2
3 vesicoureteral reflux 1 10.2
4 manitoba oculotrichoanal syndrome 10.2
5 fryns microphthalmia syndrome 10.2
6 bifid nose with or without anorectal and renal anomalies 10.2
7 autosomal recessive disease 10.2
8 umbilical hernia 10.2
9 omphalocele 10.2
10 cakut 10.2
11 microphthalmia 10.2
12 keratopathy 10.2
13 bifid nose 10.2
14 cryptophthalmos 10.2
15 renal dysplasia 10.2

Graphical network of the top 20 diseases related to Frem1 Autosomal Recessive Disorders:



Diseases related to Frem1 Autosomal Recessive Disorders

Symptoms & Phenotypes for Frem1 Autosomal Recessive Disorders

Drugs & Therapeutics for Frem1 Autosomal Recessive Disorders

Search Clinical Trials , NIH Clinical Center for Frem1 Autosomal Recessive Disorders

Genetic Tests for Frem1 Autosomal Recessive Disorders

Anatomical Context for Frem1 Autosomal Recessive Disorders

MalaCards organs/tissues related to Frem1 Autosomal Recessive Disorders:

41
Kidney

Publications for Frem1 Autosomal Recessive Disorders

Articles related to Frem1 Autosomal Recessive Disorders:

(show all 21)
# Title Authors PMID Year
1
Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case. 4
28622873 2017
2
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature. 4
28111185 2017
3
Genetic, environmental, and epigenetic factors involved in CAKUT. 4
26281895 2015
4
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. 4
24700879 2014
5
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. 4
23221805 2013
6
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. 4
23401257 2013
7
MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features. 4
23112756 2012
8
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 4
21931569 2011
9
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 4
21507892 2011
10
The role of Fras1/Frem proteins in the structure and function of basement membrane. 4
21182980 2011
11
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 4
19732862 2009
12
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. 4
18452192 2008
13
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. 4
15124102 2004
14
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 4
15166289 2004
15
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. 4
12766770 2003
16
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. 4
12766769 2003
17
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. 4
12205104 2002
18
Congenital upper eyelid coloboma and cryptophthalmos. 4
12352825 2002
19
Congenital upper lid colobomas: management and visual outcome. 4
12021649 2002
20
An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. 4
11822703 2002
21
FREM1 Autosomal Recessive Disorders 38
20301721 2008

Variations for Frem1 Autosomal Recessive Disorders

Expression for Frem1 Autosomal Recessive Disorders

Search GEO for disease gene expression data for Frem1 Autosomal Recessive Disorders.

Pathways for Frem1 Autosomal Recessive Disorders

GO Terms for Frem1 Autosomal Recessive Disorders

Sources for Frem1 Autosomal Recessive Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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