MFRG
MCID: MCR366
MIFTS: 22

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 57 72 29 6
Mfrg 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 72 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, and related phenotypes are high palate and depressed nasal bridge

OMIM® : 57 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) (Updated 20-May-2021)

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

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

Human phenotypes related to Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 depressed nasal bridge 31 HP:0005280
3 hypertelorism 31 HP:0000316
4 macrotia 31 HP:0000400
5 microcephaly 31 HP:0000252
6 brachycephaly 31 HP:0000248
7 intrauterine growth retardation 31 HP:0001511
8 retrognathia 31 HP:0000278
9 micrognathia 31 HP:0000347
10 low-set ears 31 HP:0000369
11 atrial septal defect 31 HP:0001631
12 upslanted palpebral fissure 31 HP:0000582
13 micropenis 31 HP:0000054
14 patent ductus arteriosus 31 HP:0001643
15 highly arched eyebrow 31 HP:0002553
16 ventricular septal defect 31 HP:0001629
17 ambiguous genitalia 31 HP:0000062
18 unilateral renal agenesis 31 HP:0000122
19 bilateral talipes equinovarus 31 HP:0001776
20 overlapping fingers 31 HP:0010557
21 lissencephaly 31 HP:0001339
22 generalized hypotonia 31 HP:0001290
23 narrow forehead 31 HP:0000341
24 preaxial polydactyly 31 HP:0100258
25 postaxial polydactyly 31 HP:0100259
26 seizure 31 HP:0001250
27 dimple chin 31 HP:0010751

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
lissencephaly
hypotonia
corpus callosum agenesis/dysgenesis
reduced brain volume

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

Skeletal Skull:
microcephaly

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

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

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 Nose:
depressed nasal bridge

Head And Neck Head:
microcephaly
brachycephaly

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears
large ears

Genitourinary External Genitalia Male:
micropenis
ambiguous genitalia

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

Head And Neck Mouth:
high-arched palate

Clinical features from OMIM®:

618142 (Updated 20-May-2021)

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...

Genetic tests related to Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 29 CTU2

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

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

40
Brain, Kidney

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

Articles related to Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome:

# Title Authors PMID Year
1
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. 57 6
27480277 2016
2
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. 57 6
26633546 2016
3
Functional Regression Models for Epistasis Analysis of Multiple Quantitative Traits. 61
27104857 2016

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 Name Type Significance ClinVarId dbSNP ID Position
1 CTU2 NM_001012759.3(CTU2):c.282+5G>A SNV Pathogenic 637954 rs1351549465 GRCh37: 16:88776695-88776695
GRCh38: 16:88710287-88710287
2 CTU2 NM_001012759.3(CTU2):c.1514_1517del (p.Ile505fs) Deletion Pathogenic 635411 rs779980669 GRCh37: 16:88781622-88781625
GRCh38: 16:88715214-88715217
3 CTU2 NM_001012759.3(CTU2):c.188T>C (p.Leu63Pro) SNV Pathogenic 635410 rs147948789 GRCh37: 16:88776390-88776390
GRCh38: 16:88709982-88709982
4 CTU2 NM_001012759.3(CTU2):c.1206dup (p.Ala403fs) Duplication Pathogenic 635409 rs1597434884 GRCh37: 16:88780998-88780999
GRCh38: 16:88714590-88714591
5 CTU2 NM_001012759.3(CTU2):c.873G>A (p.Thr291=) SNV Pathogenic 585016 rs769481947 GRCh37: 16:88779855-88779855
GRCh38: 16:88713447-88713447
6 CTU2 NM_001012759.3(CTU2):c.873+5G>A SNV Uncertain significance 800762 rs1597431437 GRCh37: 16:88779860-88779860
GRCh38: 16:88713452-88713452

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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