MCADD
MCID: MDM001
MIFTS: 30

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (MCADD)

Categories: Rare diseases

Aliases & Classifications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards integrated aliases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24 53 29 6 40 73
Mcad Deficiency 24 53
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 53
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 53
Medium Chain Acyl Coa Dehydrogenase Deficiency 53
Medium Chain Acyl Dehydrogenase Deficiency 73
Acadm Deficiency 53
Mcadh Deficiency 53
Mcadd 53

Classifications:



External Ids:

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

NIH Rare Diseases : 53 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inheritedmetabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early childhood and may include vomiting, lack of energy, and low blood sugar (hypoglycemia). Symptoms can be triggered by periods of fasting or by illnesses. MCADD is caused by mutations in the ACADM gene and inheritance is autosomal recessive. Treatment includes strict avoidance of fasting and avoidance of medium chain triglycerides in the diet. If not treated, people with MCADD are at risk of serious complications including sudden death.

MalaCards based summary : Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium-chain, deficiency of and acyl-coa dehydrogenase, very long-chain, deficiency of, and has symptoms including seizures, vomiting and lethargy. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase Medium Chain). The drugs Glycerol and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and whole blood.

Wikipedia : 76 Medium-chain acyl-CoA dehydrogenase deficiency, often known as MCAD deficiency or MCADD, is a disorder... more...

GeneReviews: NBK1424

Related Diseases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Graphical network of the top 20 diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Symptoms & Phenotypes for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


seizures, vomiting, lethargy

Drugs & Therapeutics for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Drugs for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 1,Not Applicable 56-81-5 753
2 Protective Agents Phase 1,Not Applicable
3 4-phenylbutyric acid Phase 1
4
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
5 Soybean oil, phospholipid emulsion Not Applicable
6 Fat Emulsions, Intravenous Not Applicable
7 Hypoglycemic Agents Not Applicable
8 insulin Not Applicable
9 Calcium, Dietary Not Applicable
10 Insulin, Globin Zinc Not Applicable
11 Pharmaceutical Solutions Not Applicable
12 Soy Bean Not Applicable
13 Anticoagulants Not Applicable
14 calcium heparin Not Applicable
15 Fibrinolytic Agents Not Applicable
16 Parenteral Nutrition Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
2 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
4 Fasting Tolerance in MCADD-infants Not yet recruiting NCT03761693 Not Applicable

Search NIH Clinical Center for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic Tests for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic tests related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 29 ACADM

Anatomical Context for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards organs/tissues related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

41
Liver, Brain, Whole Blood

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show top 50) (show all 71)
# Title Authors Year
1
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month. ( 28753542 )
2017
2
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child. ( 27903579 )
2016
3
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. ( 27477829 )
2016
4
cis-4-Decenoic and decanoic acids impair mitochondrial energy, redox and Ca(2+) homeostasis and induce mitochondrial permeability transition pore opening in rat brain and liver: Possible implications for the pathogenesis of MCAD deficiency. ( 27240720 )
2016
5
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. ( 26404458 )
2015
6
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 26215884 )
2015
7
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T. ( 26798524 )
2015
8
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. ( 24403369 )
2014
9
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. ( 25503862 )
2014
10
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 24799540 )
2014
11
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. ( 23426616 )
2013
12
Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency. ( 23151387 )
2013
13
Macro-AST: misleading finding in an adolescent with MCAD-deficiency. ( 22935320 )
2012
14
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. ( 23095120 )
2012
15
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 21824573 )
2011
16
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. ( 20580581 )
2010
17
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population. ( 20532824 )
2010
18
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. ( 20923556 )
2010
19
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. ( 18608229 )
2009
20
Screening for MCAD deficiency in newborns. ( 19282441 )
2009
21
Genetics: newborn screening for MCAD deficiency. ( 19439701 )
2009
22
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. ( 18534147 )
2008
23
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. ( 18256406 )
2008
24
Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening. ( 18649007 )
2008
25
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. ( 17960024 )
2007
26
Expanded newborn screening: Lessons learned from MCAD deficiency. ( 19655016 )
2004
27
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias. ( 12897989 )
2003
28
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns. ( 12043106 )
2002
29
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. ( 11346377 )
2001
30
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). ( 11392180 )
2001
31
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
32
Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat. ( 10381140 )
1999
33
MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment. ( 10709663 )
1999
34
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. ( 9667375 )
1998
35
Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 9234867 )
1997
36
Comment on "Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS): MCAD deficiency". ( 8947364 )
1996
37
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. ( 7815228 )
1995
38
MCAD deficiency and anaesthesia. ( 7717506 )
1995
39
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8017963 )
1994
40
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. ( 8134205 )
1994
41
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. ( 8120710 )
1994
42
Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 7981832 )
1994
43
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8215568 )
1993
44
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ( 20301597 )
1993
45
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8419594 )
1993
46
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. ( 8496748 )
1993
47
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8463904 )
1993
48
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. ( 8432018 )
1993
49
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. ( 1456259 )
1992
50
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. ( 1447668 )
1992

Variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

ClinVar genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

6 (show top 50) (show all 419)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
2 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh38 Chromosome 1, 75761161: 75761161
3 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh37 Chromosome 1, 76226860: 76226872
4 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh38 Chromosome 1, 75761175: 75761187
5 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
6 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh38 Chromosome 1, 75749509: 75749509
7 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
8 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh38 Chromosome 1, 75761300: 75761300
9 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
10 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh38 Chromosome 1, 75749440: 75749440
11 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
12 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
13 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
14 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh38 Chromosome 1, 75761278: 75761281
15 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
16 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh37 Chromosome 1, 76199269: 76199274
17 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh37 Chromosome 1, 76205779: 76205779
18 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh38 Chromosome 1, 75740094: 75740094
19 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh37 Chromosome 1, 76205773: 76205773
20 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh38 Chromosome 1, 75740088: 75740088
21 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh37 Chromosome 1, 76215237: 76215237
22 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh38 Chromosome 1, 75749552: 75749552
23 ACADM NM_000016.5(ACADM): c.199T> C (p.Tyr67His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434280 GRCh37 Chromosome 1, 76198409: 76198409
24 ACADM NM_000016.5(ACADM): c.199T> C (p.Tyr67His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434280 GRCh38 Chromosome 1, 75732724: 75732724
25 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh37 Chromosome 1, 76215129: 76215129
26 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh38 Chromosome 1, 75749444: 75749444
27 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh37 Chromosome 1, 76199288: 76199288
28 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh38 Chromosome 1, 75733603: 75733603
29 ACADM NM_000016.5(ACADM): c.1091T> C (p.Ile364Thr) single nucleotide variant Uncertain significance rs150710061 GRCh37 Chromosome 1, 76226952: 76226952
30 ACADM NM_000016.5(ACADM): c.1091T> C (p.Ile364Thr) single nucleotide variant Uncertain significance rs150710061 GRCh38 Chromosome 1, 75761267: 75761267
31 ACADM NM_000016.5(ACADM): c.1161A> G (p.Val387=) single nucleotide variant Benign/Likely benign rs1061337 GRCh37 Chromosome 1, 76227022: 76227022
32 ACADM NM_000016.5(ACADM): c.1161A> G (p.Val387=) single nucleotide variant Benign/Likely benign rs1061337 GRCh38 Chromosome 1, 75761337: 75761337
33 ACADM NM_000016.5(ACADM): c.127G> A (p.Glu43Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147559466 GRCh37 Chromosome 1, 76198337: 76198337
34 ACADM NM_000016.5(ACADM): c.127G> A (p.Glu43Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147559466 GRCh38 Chromosome 1, 75732652: 75732652
35 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh37 Chromosome 1, 76198367: 76198367
36 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh38 Chromosome 1, 75732682: 75732682
37 ACADM NM_000016.5(ACADM): c.216+10T> C single nucleotide variant Benign/Likely benign rs2275378 GRCh37 Chromosome 1, 76198436: 76198436
38 ACADM NM_000016.5(ACADM): c.216+10T> C single nucleotide variant Benign/Likely benign rs2275378 GRCh38 Chromosome 1, 75732751: 75732751
39 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh37 Chromosome 1, 76198428: 76198428
40 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh38 Chromosome 1, 75732743: 75732743
41 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh37 Chromosome 1, 76198554: 76198554
42 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh38 Chromosome 1, 75732869: 75732869
43 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh37 Chromosome 1, 76198574: 76198574
44 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh38 Chromosome 1, 75732889: 75732889
45 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh37 Chromosome 1, 76199277: 76199277
46 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh38 Chromosome 1, 75733592: 75733592
47 ACADM NM_000016.5(ACADM): c.489T> G (p.Pro163=) single nucleotide variant Benign/Likely benign rs78392995 GRCh37 Chromosome 1, 76205685: 76205685
48 ACADM NM_000016.5(ACADM): c.489T> G (p.Pro163=) single nucleotide variant Benign/Likely benign rs78392995 GRCh38 Chromosome 1, 75740000: 75740000
49 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh37 Chromosome 1, 76211507: 76211507
50 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh38 Chromosome 1, 75745822: 75745822

Expression for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

GO Terms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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