Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Mowat-Wilson-Syndrom

Mikrozephalie, mentale Retardierung, und unterschiedliche Gesichtsveränderungen, mit und ohne Morbus Hirschsprung ist eine autosomal rezessive Erkrankung, die durch Mutationen im ZEB2-Gen hervorgerufen wird. Neben den Genannten finden sich gelegentlich auch urogenitale Fehlbildungen.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
ZEB2
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom
autosomal rezessives Robinow-Syndrom

Referenzen:

1.

Mowat DR et al. (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

external link
2.

Cordelli DM et al. (2013) Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

external link
3.

Evans E et al. (2012) The behavioral phenotype of Mowat-Wilson syndrome.

external link
4.

Garavelli L et al. (2009) Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

external link
5.

Cecconi M et al. (2008) Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

external link
6.

Engenheiro E et al. (2008) Mowat-Wilson syndrome: an underdiagnosed syndrome?

external link
7.

Strenge S et al. (2007) Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.

external link
8.

Adam MP et al. (2006) Clinical features and management issues in Mowat-Wilson syndrome.

external link
9.

Zweier C et al. () Clinical and mutational spectrum of Mowat-Wilson syndrome.

external link
10.

Silengo M et al. (2004) Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.

external link
11.

Cerruti Mainardi P et al. (2004) Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

external link
12.

Horn D et al. (2004) Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

external link
13.

Wilson M et al. (2003) Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

external link
14.

Mowat DR et al. (2003) Mowat-Wilson syndrome.

external link
15.

Garavelli L et al. (2003) Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

external link
16.

Ohnuma K et al. (1997) Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

external link
17.

Hurst JA et al. (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

external link
18.

de Pontual L et al. (2006) Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

external link
19.

Wakamatsu N et al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

external link
20.

Cacheux V et al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

external link
21.

Yamada K et al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

external link
22.

Amiel J et al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

external link
23.

Zweier C et al. (2002) "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

external link
24.

Yoneda M et al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

external link
25.

Zweier C et al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

external link
26.

Ishihara N et al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

external link
27.

McGaughran J et al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

external link
28.

Zweier C et al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

external link
29.

Heinritz W et al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

external link
30.

Dastot-Le Moal F et al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome.

external link
31.

Ghoumid J et al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

external link
32.

Tanaka H et al. () Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.

external link
33.

Orphanet article

Orphanet ID 2152 external link
34.

OMIM.ORG article

Omim 235730 external link
35.

Wikipedia Artikel

Wikipedia DE (Mowat-Wilson-Syndrom) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz