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Meckel syndrome, type 11(MKS11)

MedGen UID:
815682
•Concept ID:
C3809352
•
Disease or Syndrome
Synonym: MKS11
 
Gene (location): TMEM231 (16q23.1)
 
Monarch Initiative: MONDO:0014164
OMIM®: 615397

Definition

Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. [from MONDO]

Clinical features

From HPO
Polycystic kidney disease
MedGen UID:
9639
•Concept ID:
C0022680
•
Disease or Syndrome
The presence of multiple cysts in both kidneys.
See: Feature record | Search on this feature
Polydactyly
MedGen UID:
57774
•Concept ID:
C0152427
•
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
See: Feature record | Search on this feature
Occipital encephalocele
MedGen UID:
4935
•Concept ID:
C0014067
•
Congenital Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
See: Feature record | Search on this feature
Oligohydramnios
MedGen UID:
86974
•Concept ID:
C0079924
•
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. PMID: 25182137Free PMC Article

Recent clinical studies

Etiology

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
Meckel Gruber syndrome, A case report.
Aslan K, Külahçı Aslan E, Orhan A, Atalay MA
Organogenesis 2015;11(2):87-92. Epub 2015 Jun 2 doi: 10.1080/15476278.2015.1055431. PMID: 26037304Free PMC Article
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM
Eur J Hum Genet 2013 Oct;21(10):1074-8. Epub 2013 Feb 6 doi: 10.1038/ejhg.2012.305. PMID: 23386033Free PMC Article

Diagnosis

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. PMID: 25182137Free PMC Article
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM
Eur J Hum Genet 2013 Oct;21(10):1074-8. Epub 2013 Feb 6 doi: 10.1038/ejhg.2012.305. PMID: 23386033Free PMC Article

Prognosis

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
Meckel Gruber syndrome, A case report.
Aslan K, Külahçı Aslan E, Orhan A, Atalay MA
Organogenesis 2015;11(2):87-92. Epub 2015 Jun 2 doi: 10.1080/15476278.2015.1055431. PMID: 26037304Free PMC Article
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
Zhang D, Aravind L
Cell Cycle 2012 Oct 15;11(20):3861-75. Epub 2012 Sep 14 doi: 10.4161/cc.22068. PMID: 22983010Free PMC Article

Clinical prediction guides

Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
Meckel Gruber syndrome, A case report.
Aslan K, Külahçı Aslan E, Orhan A, Atalay MA
Organogenesis 2015;11(2):87-92. Epub 2015 Jun 2 doi: 10.1080/15476278.2015.1055431. PMID: 26037304Free PMC Article
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. PMID: 25182137Free PMC Article
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM
Eur J Hum Genet 2013 Oct;21(10):1074-8. Epub 2013 Feb 6 doi: 10.1038/ejhg.2012.305. PMID: 23386033Free PMC Article

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