MFRG
MCID: MCR366
MIFTS: 8

Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome (MFRG)

Categories: Genetic diseases, Nephrological diseases, Reproductive diseases

Aliases & Classifications for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

MalaCards integrated aliases for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome:

Name: Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 57 6
Mfrg 57

Classifications:



External Ids:

OMIM 57 618142

Summaries for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

OMIM : 57 MFRG is an autosomal dominant syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures (Shaheen et al., 2016). (618142)

MalaCards based summary : Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome, is also known as mfrg. An important gene associated with Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome is CTU2 (Cytosolic Thiouridylase Subunit 2). Affiliated tissues include brain.

Related Diseases for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

Symptoms & Phenotypes for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

Clinical features from OMIM:

618142

Drugs & Therapeutics for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome

Genetic Tests for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

Anatomical Context for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

MalaCards organs/tissues related to Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome:

41
Brain

Publications for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

Variations for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

ClinVar genetic disease variations for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTU2 NM_001012762.2(CTU2): c.873G> A (p.Thr291=) single nucleotide variant Pathogenic rs769481947 GRCh38 Chromosome 16, 88713447: 88713447
2 CTU2 NM_001012762.2(CTU2): c.873G> A (p.Thr291=) single nucleotide variant Pathogenic rs769481947 GRCh37 Chromosome 16, 88779855: 88779855

Expression for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

Search GEO for disease gene expression data for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome.

Pathways for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

GO Terms for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

Sources for Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous...

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17 ExPASy
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33 ICD10
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69 SNOMED-CT via HPO
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