Dandy-walker Malformation malady

MalaCards: Dandy-walker Malformation, also known as dandy-walker syndrome, is related to blepharophimosis, ptosis, and epicanthus inversus syndrome and paraneoplastic neurologic disorders. An important gene associated with Dandy-walker Malformation is ZIC4 (Zic family member 4), and among its related pathways is Transcription factors in neurogenesis. Affiliated tissues include skin, and related mouse phenotypes are behavior/neurological and limbs/digits/tail.

OMIM: 220200

dandy-walker malformation 7 33 32 dandy-walker syndrome 43

Diseases related to dandy-walker malformation by text searches and GeneDecks gene sharing:

(show all 24)

id	Related Disease	Score	Top Affiliating Genes
1	blepharophimosis, ptosis, and epicanthus inversus syndrome	12.9	ZIC4, ZIC1
2	paraneoplastic neurologic disorders	12.9	ZIC1, ZIC4
3	neural tube defect	12.5	ZIC1, ZIC2
4	cerebellar degeneration	12.5	ZIC1, ZIC4
5	holoprosencephaly	12.4	ZIC1, ZIC2, ZIC5
6	spina bifida	12.3	ZIC4, ZIC2, ZIC1
7	cerebritis	11.6	ZIC5, ZIC4, ZIC2, ZIC1, NES
8	meningioma	11.3	GJB2, ZIC5, ZIC4, ZIC2, ZIC1
9	dandy-walker syndrome	10.9
10	dandy-walker malformation with mental retardation basal ganglia disease and seizures	9.1
11	dandy-walker malformation with sagittal craniosynostosis and hydrocephalus	9.1
12	dws-related dandy walker syndrome	8.8
13	mental retardation, x-linked, syndromic-5, with dandy-walker malformation, basal ganglia disease, and seizures	8.6
14	dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis	8.6
15	dandy-walker malformation with facial hemangioma	8.6
16	dandy-walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy	8.6
17	dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia	8.6
18	dandy-walker malformation with postaxial polydactyly	8.6
19	dandy-walker complex	8.2
20	kid syndrome	7.7
21	cerebellar hypoplasia	7.3
22	corpus callosum agenesis	7.3
23	cutis laxa	7.3
24	immunodeficiency	7.3

Clinical features from OMIM: 220200

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to dandy-walker malformation:

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MGI Mouse Phenotypes related to dandy-walker malformation:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological phenotype	MP:0005386	7.9	NES, PLOD1, ZIC5, ZIC4, ZIC2, ZIC1
2	limbs/digits/tail phenotype	MP:0005371	7.9	SMARCA4, GJB2, FOXC1, ZIC2
3	integument phenotype	MP:0010771	7.5	ZIC2, FOXC1, GJB2, SMARCA4, PLOD1
4	embryogenesis phenotype	MP:0005380	7.5	NES, SMARCA4, GJB2, FOXC1, ZIC5, ZIC2
5	nervous system phenotype	MP:0003631	6.8	NES, SMARCA4, GJB2, FOXC1, ZIC5, ZIC4
6	mortality/aging	MP:0010768	6.3	ZIC1, NES, PLOD1, SMARCA4, GJB2, FOXC1

Articles related to dandy-walker malformation:

id	Title	Authors	Year	Affiliating Genes
1	Dandy-Walker malformation associated with heterozygou s ZIC1 and ZIC4 deletion: Report of a new patient. (21204220)	Tohyama J.... Matsumoto N.	2011	ZIC1, ZIC4
2	Description of the smallest critical region for Dandy -Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). (20683983)	Mademont-Soler I.... SA!nchez A.	2010	ZIC2, ZIC5
3	Dandy-Walker malformation in patients with KID syndro me associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encodi ng connexin 26. (19793313)	Todt I.... Willems P.J.	2009	GJB2
4	FOXC1 is required for normal cerebellar development a nd is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. (19668217)	Aldinger K.A.... Millen K.J.	2009	FOXC1
5	Successful cochlear implantation in a child with Kera tosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. (18313767)	Cushing S.L.... Papsin B.C.	2008	GJB2
6	Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. (15338008)	Grinberg I.... Millen K.J.	2004	ZIC1, ZIC4, DWS
7	Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? (11446409)	McKee S.A.... McKeown C.	2001	PLOD1

Genes related to dandy-walker malformation according to GeneCards:

(show all 11)

id	Symbol	Description	Score	GeneCards Section Context
1	ZIC4	Zic family member 4	11.1	Summaries, Publications
2	MRXS5	mental retardation, X-linked, syndromic 5	11.1
3	NES	nestin	11.1
4	DWS	dandy-walker syndrome	11.0	Publications
5	ZIC5	Zic family member 5	11.0	Publications
6	ZIC1	Zic family member 1	11.0	Publications
7	ZIC2	Zic family member 2	11.0	Publications
8	FOXC1	forkhead box C1	11.0	Publications
9	PLOD1	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	11.0	Publications
10	GJB2	gap junction protein, beta 2, 26kDa	11.0	Publications
11	SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	9.8	Disorders

Pathways related to dandy-walker malformation according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Transcription factors in neurogenesis10	9.6	ZIC1, ZIC2

Biological processes related to dandy-walker malformation according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	neural tube closure	GO:001843	9.6	ZIC2, ZIC5
2	brain development	GO:007420	9.3	ZIC1, ZIC2, NES
3	forebrain development	GO:030900	9.3	ZIC5, SMARCA4
4	positive regulation of transcription, DNA-dependent	GO:045893	8.5	SMARCA4, FOXC1, ZIC2, ZIC1