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 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

diencephalic-mesencephalic junction dysplasia
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other specified congenital malformations of brain

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³⁴ Q04.8

Orphanet ⁵⁹ ORPHA319192

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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.

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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
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:

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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

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Anatomical Context for Diencephalic-Mesencephalic Junction Dysplasia

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

⁴¹

Brain

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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	Dines JN...Dipple KM	31294511	2019
2	Prenatal ultrasound signs of diencephalic-mesencephalic junction dysplasia. ³⁸	Shah N	30549120	2018
3	Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. ³⁸	Guemez-Gamboa A...Gleeson JG	30178464	2018
4	The patient with mild diencephalic-mesencephalic junction dysplasia - Case report and review of literature. ³⁸	Madry J...Friedman A	28864328	2017
5	MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly. ³⁸	Severino M...Rossi A	28596193	2017
6	Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. ³⁸	Abdel Razek AA...Castillo M	26599961	2016
7	Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. ³⁸	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	PubmedIds
1	PCDH12	Protocadherin 12	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Diencephalic-Mesencephalic Junction Dysplasia

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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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