From Wikipedia, the free encyclopedia
Medical condition
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic
genetic disorder which is characterized by
developmental delay ,
seizures ,
hypotonia and heart,
urinary , and gastrointestinal abnormalities.
[1]
Presentation
People with this disorder often show the following symptoms:
[2]
General
Heart
Genito-urinary
Hydrocele
Renal collection system dilatation
Hydroureter
Hydronephrosis
Trabecular urinary bladder hypertrophy
Gastrointestinal
Facial
Auricular
Causes
It is caused by an autosomal recessive mutation in the
PIGN gene, in
chromosome 18 , to be more specific; it is caused by a base pair substitution of C to A somewhere in the gene.
[3]
[4]
[5]
[6]
Epidemiology
Only 15 cases of this syndrome have been reported in medical literature.
[7]
References
^ RESERVED, INSERM US14-- ALL RIGHTS.
"Orphanet: Multiple congenital anomalies hypotonia seizures syndrome" . www.orpha.net . Retrieved 2022-05-20 . {{
cite web }}
: CS1 maint: numeric names: authors list (
link )
^
"Multiple congenital anomalies-hypotonia-seizures syndrome - About the Disease - Genetic and Rare Diseases Information Center" . rarediseases.info.nih.gov . Retrieved 2022-05-20 .
^ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J (2011-06-01).
"Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN" . Journal of Medical Genetics . 48 (6): 383–389.
doi :
10.1136/jmg.2010.087114 .
ISSN
1468-6244 .
PMID
21493957 .
S2CID
39973123 .
^ Jiao, Xianru; Xue, Jiao; Gong, Pan; Bao, Xinhua; Wu, Ye; Zhang, Yuehua; Jiang, Yuwu; Yang, Zhixian (2020-03-27).
"Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)" . Orphanet Journal of Rare Diseases . 15 (1): 78.
doi :
10.1186/s13023-020-01365-0 .
ISSN
1750-1172 .
PMC
7099766 .
PMID
32220244 .
^ Yang, Li; Peng, Jing; Yin, Xiao-Meng; Pang, Nan; Chen, Chen; Wu, Teng-Hui; Zou, Xiao-Min; Yin, Fei (2018).
"Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3" . Frontiers in Genetics . 9 .
doi :
10.3389/fgene.2018.00153 .
ISSN
1664-8021 .
PMC
5951959 .
^ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J. (2011-06-01).
"Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN" . Journal of Medical Genetics . 48 (6): 383–389.
doi :
10.1136/jmg.2010.087114 .
ISSN
0022-2593 .
PMID
21493957 .
S2CID
39973123 .
^
"OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1" . omim.org . Retrieved 2022-05-20 .