Diencephalic-Mesencephalic Junction Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Diencephalic-Mesencephalic Junction Dysplasia

MalaCards integrated aliases for Diencephalic-Mesencephalic Junction Dysplasia:

Name: Diencephalic-Mesencephalic Junction Dysplasia ⁵⁸ ²⁹

Diencephalic-Mesencephalic Junction Dysplasia Syndrome ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

diencephalic-mesencephalic junction dysplasia
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other specified congenital malformations of brain

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q04.8

Orphanet ⁵⁸ ORPHA319192

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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.

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Related Diseases for Diencephalic-Mesencephalic Junction Dysplasia

Diseases in the Diencephalic-Mesencephalic Junction Dysplasia family:

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

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

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	diencephalic-mesencephalic junction dysplasia syndrome 1	33.8	PCDH12 DELE1
2	diencephalic-mesencephalic junction dysplasia syndrome 2	13.1
3	microcephaly	10.4
4	hydrocephalus	10.4
5	hypotonia	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	clubfoot	10.3
11	spasticity	10.3
12	dystonia	9.2	PCDH12 GSX2

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

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Symptoms & Phenotypes for Diencephalic-Mesencephalic Junction Dysplasia

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Drugs & Therapeutics for Diencephalic-Mesencephalic Junction Dysplasia

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

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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

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Anatomical Context for Diencephalic-Mesencephalic Junction Dysplasia

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

⁴⁰

Brain

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Publications for Diencephalic-Mesencephalic Junction Dysplasia

Articles related to Diencephalic-Mesencephalic Junction Dysplasia:

#	Title	Authors	PMID	Year
1	Thalamic Massa Intermedia in Children with and without Midline Brain Malformations. ⁶¹	Whitehead MT...Najim N	32115420	2020
2	Type B diencephalic-mesencephalic junction dysplasia, a congenital brainstem malformation that may be silent until adulthood: a case report. ⁶¹	Moreno-Estebanez A...Martin EB	32170504	2020
3	Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. ⁶¹	Dines JN...Dipple KM	31294511	2019
4	Prenatal ultrasound signs of diencephalic-mesencephalic junction dysplasia. ⁶¹	Shah N	30549120	2019
5	Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. ⁶¹	Guemez-Gamboa A...Gleeson JG	30178464	2018
6	The patient with mild diencephalic-mesencephalic junction dysplasia - Case report and review of literature. ⁶¹	Madry J...Friedman A	28864328	2017
7	MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly. ⁶¹	Severino M...Rossi A	28596193	2017
8	Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. ⁶¹	Abdel Razek AA...Castillo M	26599961	2016
9	Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. ⁶¹	Zaki MS...Grijalvo-Perez AM	22822038	2012

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Genes for Diencephalic-Mesencephalic Junction Dysplasia

Genes related to Diencephalic-Mesencephalic Junction Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PCDH12	Protocadherin 12	Protein Coding	768.06	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications Variants (show sections)
2	GSX2	GS Homeobox 2	Protein Coding	18.2	GeneCards inferred via : Disorders Variants (show sections)
3	DELE1	DAP3 Binding Cell Death Enhancer 1	Protein Coding	7.83	GeneCards inferred via : Variants (show sections)

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Variations for Diencephalic-Mesencephalic Junction Dysplasia

ClinVar genetic disease variations for Diencephalic-Mesencephalic Junction Dysplasia:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	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

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Expression for Diencephalic-Mesencephalic Junction Dysplasia

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

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Pathways for Diencephalic-Mesencephalic Junction Dysplasia

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GO Terms for Diencephalic-Mesencephalic Junction Dysplasia

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