MCID: DNC006
MIFTS: 12

Diencephalic-Mesencephalic Junction Dysplasia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diencephalic-Mesencephalic Junction Dysplasia

MalaCards integrated aliases for Diencephalic-Mesencephalic Junction Dysplasia:

Name: Diencephalic-Mesencephalic Junction Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
diencephalic-mesencephalic junction dysplasia
Inheritance: Autosomal recessive;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q04.8
Orphanet 59 ORPHA319192

Summaries for Diencephalic-Mesencephalic Junction Dysplasia

MalaCards based summary : Diencephalic-Mesencephalic Junction Dysplasia is related to hydrocephalus and microcephaly. An important gene associated with Diencephalic-Mesencephalic Junction Dysplasia is PCDH12 (Protocadherin 12). Affiliated tissues include brain.

Related Diseases for Diencephalic-Mesencephalic Junction Dysplasia

Diseases related to Diencephalic-Mesencephalic Junction Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.4
2 microcephaly 10.4
3 congenital hydrocephalus 10.4
4 hypotonia 10.4
5 cerebral malformation 10.4
6 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
7 hydrocephalus, congenital, 1 10.3
8 branchiootic syndrome 1 10.3
9 persistent hyperplastic primary vitreous 10.3
10 talipes equinovarus 10.3
11 spasticity 10.3

Graphical network of the top 20 diseases related to Diencephalic-Mesencephalic Junction Dysplasia:



Diseases related to Diencephalic-Mesencephalic Junction Dysplasia

Symptoms & Phenotypes for Diencephalic-Mesencephalic Junction Dysplasia

Drugs & Therapeutics for Diencephalic-Mesencephalic Junction Dysplasia

Search Clinical Trials , NIH Clinical Center for Diencephalic-Mesencephalic Junction Dysplasia

Genetic Tests for Diencephalic-Mesencephalic Junction Dysplasia

Anatomical Context for Diencephalic-Mesencephalic Junction Dysplasia

MalaCards organs/tissues related to Diencephalic-Mesencephalic Junction Dysplasia:

41
Brain

Publications for Diencephalic-Mesencephalic Junction Dysplasia

Articles related to Diencephalic-Mesencephalic Junction Dysplasia:

# Title Authors PMID Year
1
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 38
31294511 2019
2
Prenatal ultrasound signs of diencephalic-mesencephalic junction dysplasia. 38
30549120 2018
3
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. 38
30178464 2018
4
The patient with mild diencephalic-mesencephalic junction dysplasia - Case report and review of literature. 38
28864328 2017
5
MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly. 38
28596193 2017
6
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 38
26599961 2016
7
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. 38
22822038 2012

Variations for Diencephalic-Mesencephalic Junction Dysplasia

Expression for Diencephalic-Mesencephalic Junction Dysplasia

Search GEO for disease gene expression data for Diencephalic-Mesencephalic Junction Dysplasia.

Pathways for Diencephalic-Mesencephalic Junction Dysplasia

GO Terms for Diencephalic-Mesencephalic Junction Dysplasia

Sources for Diencephalic-Mesencephalic Junction Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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