MFRG
MCID: MCR366
MIFTS: 13

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

Categories: Genetic 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 58 76 6
Mfrg 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
respiratory support required in neonatal period
episodes of sepsis
death in utero or in neonatal period (in some patients)


Classifications:



External Ids:

OMIM 58 618142
MeSH 45 D000015

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

UniProtKB/Swiss-Prot : 76 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome: An autosomal dominant syndrome characterized by primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and unilateral renal agenesis. 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.

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 and kidney.

OMIM : 58 MFRG is an autosomal recessive 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)

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
arched eyebrows
shallow supraorbital ridges

Neurologic Central Nervous System:
seizures
lissencephaly
hypotonia
corpus callosum agenesis/dysgenesis
reduced brain volume

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
retrognathia
chin dimple
narrow forehead
hypoplastic maxilla
micrognathia, severe

Growth Other:
intrauterine growth retardation

Genitourinary Kidneys:
unilateral renal agenesis
unilateral small kidney

Skeletal Hands:
overlapping fingers
preaxial polydactyly (in 1 patient)

Skeletal Limbs:
contractures of joints of upper and lower extremities

Head And Neck Ears:
low-set ears
large ears

Head And Neck Nose:
depressed nasal bridge

Skeletal Skull:
microcephaly

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
ventricular septal defect
hypoplastic right ventricle (in 1 patient)

Genitourinary External Genitalia Male:
ambiguous genitalia
micropenis

Skeletal Feet:
bilateral talipes equinovarus
postaxial polydactyly (in 1 patient)

Head And Neck Mouth:
high-arched palate

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:

42
Brain, Kidney

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 GRCh38 Chromosome 16, 88713447: 88713447
2 CTU2 NM_001012762.2(CTU2): c.873G> A (p.Thr291=) single nucleotide variant Pathogenic 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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