MCID: DNC006
MIFTS: 20

Diencephalic-Mesencephalic Junction Dysplasia

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Diencephalic-Mesencephalic Junction Dysplasia

MalaCards integrated aliases for Diencephalic-Mesencephalic Junction Dysplasia:

Name: Diencephalic-Mesencephalic Junction Dysplasia 58 29 6
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 36 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:

KEGG 36 H02487
ICD10 via Orphanet 33 Q04.8
Orphanet 58 ORPHA319192

Summaries for Diencephalic-Mesencephalic Junction Dysplasia

KEGG : 36 Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial sections on MRI. Patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. A few genes that cause DMJDS have been identified.

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.

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

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

Genetic tests related to Diencephalic-Mesencephalic Junction Dysplasia:

# Genetic test Affiliating Genes
1 Diencephalic-Mesencephalic Junction Dysplasia 29

Anatomical Context for Diencephalic-Mesencephalic Junction Dysplasia

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

40
Brain

Publications for Diencephalic-Mesencephalic Junction Dysplasia

Articles related to Diencephalic-Mesencephalic Junction Dysplasia:

(show all 12)
# Title Authors PMID Year
1
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. 61
33527719 2021
2
Prenatal Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes. 61
33522008 2021
3
Type-B Diencephalic-Mesencephalic Junction Dysplasia Initially Presented With Secondary Cough-Induced Headaches: A Case Report. 61
32862470 2020
4
Type B diencephalic-mesencephalic junction dysplasia, a congenital brainstem malformation that may be silent until adulthood: a case report. 61
32170504 2020
5
Thalamic Massa Intermedia in Children with and without Midline Brain Malformations. 61
32115420 2020
6
Prenatal ultrasound signs of diencephalic-mesencephalic junction dysplasia. 61
30549120 2019
7
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 61
31294511 2019
8
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. 61
30178464 2018
9
The patient with mild diencephalic-mesencephalic junction dysplasia - Case report and review of literature. 61
28864328 2017
10
MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly. 61
28596193 2017
11
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 61
26599961 2016
12
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.2511del (p.Ser838fs) Deletion Pathogenic 684718 rs1596646372 5:141334906-141334906 5:141955341-141955341
2 PCDH12 NM_016580.3(PCDH12):c.2765_2766del (p.Pro922fs) Deletion Pathogenic 684719 rs1596646165 5:141334651-141334652 5:141955086-141955087
3 PCDH12 NM_016580.3(PCDH12):c.1060del (p.Val354fs) Deletion Pathogenic 684720 rs1199523766 5:141336357-141336357 5:141956792-141956792
4 PCDH12 NM_016580.3(PCDH12):c.2765_2766del (p.Pro922fs) Deletion Uncertain significance 684719 rs1596646165 5:141334651-141334652 5:141955086-141955087
5 PCDH12 NM_016580.4(PCDH12):c.838G>T (p.Glu280Ter) SNV Uncertain significance 977136 5:141336579-141336579 5:141957014-141957014

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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