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 ⁶

Diencephalic-Mesencephalic Junction Dysplasia Syndrome ³⁶ 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:

KEGG ³⁶ H02487

ICD10 via Orphanet ³³ Q04.8

Orphanet ⁵⁸ ORPHA319192

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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.

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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 13)

#	Related Disease	Score	Top Affiliating Genes
1	diencephalic-mesencephalic junction dysplasia syndrome 1	32.5	PCDH12 DELE1
2	diencephalic-mesencephalic junction dysplasia syndrome 2	12.0
3	hydrocephalus	10.4
4	microcephaly	10.3
5	microcephaly with spastic quadriplegia	10.3
6	hypotonia	10.3
7	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	10.2
8	branchiootic syndrome 1	10.2
9	persistent hyperplastic primary vitreous	10.2
10	mild cognitive impairment	10.2
11	clubfoot	10.2
12	spasticity	10.2
13	dystonia	9.4	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:

(show all 12)

#	Title	Authors	PMID	Year
1	Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. ⁶¹	Mattioli F...Reymond A	33527719	2021
2	Prenatal Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes. ⁶¹	Lawrence AK...du Plessis AJ	33522008	2021
3	Type-B Diencephalic-Mesencephalic Junction Dysplasia Initially Presented With Secondary Cough-Induced Headaches: A Case Report. ⁶¹	Mehta DG...Swanson JW	32862470	2020
4	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
5	Thalamic Massa Intermedia in Children with and without Midline Brain Malformations. ⁶¹	Whitehead MT...Najim N	32115420	2020
6	Prenatal ultrasound signs of diencephalic-mesencephalic junction dysplasia. ⁶¹	Shah N	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	Dines JN...Dipple KM	31294511	2019
8	Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. ⁶¹	Guemez-Gamboa A...Gleeson JG	30178464	2018
9	The patient with mild diencephalic-mesencephalic junction dysplasia - Case report and review of literature. ⁶¹	Madry J...Friedman A	28864328	2017
10	MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly. ⁶¹	Severino M...Rossi A	28596193	2017
11	Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. ⁶¹	Abdel Razek AA...Castillo M	26599961	2016
12	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	778.62	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
2	GSX2	GS Homeobox 2	Protein Coding	17.97	GeneCards inferred via : Disorders Variants (show sections)
3	DELE1	DAP3 Binding Cell Death Enhancer 1	Protein Coding	7.77	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	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

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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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