MCID: DNC006
MIFTS: 17

Diencephalic-Mesencephalic Junction Dysplasia

Categories: Fetal diseases, Genetic 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 58
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 6

Characteristics:

Orphanet epidemiological data:

58
diencephalic-mesencephalic junction dysplasia
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.8
Orphanet 58 ORPHA319192

Summaries for Diencephalic-Mesencephalic Junction Dysplasia

MalaCards based summary : Diencephalic-Mesencephalic Junction Dysplasia, also known as diencephalic-mesencephalic junction dysplasia syndrome, is related to diencephalic-mesencephalic junction dysplasia syndrome 1 and diencephalic-mesencephalic junction dysplasia syndrome 2. An important gene associated with Diencephalic-Mesencephalic Junction Dysplasia is PCDH12 (Protocadherin 12). Affiliated tissues include brain and bone, and related phenotype is normal.

Related Diseases for Diencephalic-Mesencephalic Junction Dysplasia

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

MGI Mouse Phenotypes related to Diencephalic-Mesencephalic Junction Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.62 GSX2 PCDH12

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:

40
Brain, Bone

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. 61
31294511 2019
2
Prenatal ultrasound signs of diencephalic-mesencephalic junction dysplasia. 61
30549120 2019
3
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. 61
30178464 2018
4
The patient with mild diencephalic-mesencephalic junction dysplasia - Case report and review of literature. 61
28864328 2017
5
MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly. 61
28596193 2017
6
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 61
26599961 2016
7
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. 61
22822038 2012

Variations for Diencephalic-Mesencephalic Junction Dysplasia

ClinVar genetic disease variations for Diencephalic-Mesencephalic Junction Dysplasia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCDH12 NM_016580.3(PCDH12):c.2765_2766del (p.Pro922fs)deletion Pathogenic 684719 5:141334651-141334652 5:141955086-141955087
2 PCDH12 NM_016580.3(PCDH12):c.2511del (p.Ser838fs)deletion Pathogenic 684718 5:141334906-141334906 5:141955341-141955341
3 PCDH12 NM_016580.3(PCDH12):c.1060del (p.Val354fs)deletion Pathogenic 684720 5:141336357-141336357 5:141956792-141956792

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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