DMJDS2
MCID: DNC008
MIFTS: 23

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 (DMJDS2)

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

Aliases & Classifications for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

MalaCards integrated aliases for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2:

Name: Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 57 73 29 6
Spastic Tetraparesis, Dystonia, Developmental Delay, and Structural Abnormalities of the Basal Ganglia 57 73
Dmjds2 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
two unrelated patients have been reported (last curated october 2019)


HPO:

31
diencephalic-mesencephalic junction dysplasia syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 618646
OMIM Phenotypic Series 57 PS251280
MeSH 44 D065886

Summaries for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

OMIM® : 57 Diencephalic-mesencephalic junction dysplasia syndrome-2 (DMJDS2) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and hypotonia apparent from infancy. Affected individuals develop severe progressive hyperkinetic movements, including spastic tetraplegia, dystonia, and bulbar dysphagia necessitating tube feeding. Patients are unable to walk and have severely impaired intellectual development with absent speech. Brain imaging shows a unique malformation reflecting abnormal embryonic development of the diencephalic-mesencephalic junction (DMJ), with agenesis of the basal ganglia and olfactory bulb, hypoplasia of the thalamus, and abnormal course of the corticospinal tracts (summary by De Mori et al., 2019). For a discussion of genetic heterogeneity of DMJDS, see DMJDS1 (251280). (618646) (Updated 05-Mar-2021)

MalaCards based summary : Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2, is also known as spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia. An important gene associated with Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 is GSX2 (GS Homeobox 2). Affiliated tissues include olfactory bulb, thalamus and brain, and related phenotypes are feeding difficulties in infancy and spastic tetraplegia

UniProtKB/Swiss-Prot : 73 Diencephalic-mesencephalic junction dysplasia syndrome 2: An autosomal recessive neurodevelopmental disorder with onset at birth, characterized by severe global developmental delay, hypotonia, spastic tetraparesis, generalized dystonia and severe intellectual impairment. Brain imaging shows a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course.

Related Diseases for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Diseases in the Diencephalic-Mesencephalic Junction Dysplasia family:

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Symptoms & Phenotypes for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Human phenotypes related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 feeding difficulties in infancy 31 very rare (1%) HP:0008872
2 spastic tetraplegia 31 very rare (1%) HP:0002510
3 absent speech 31 very rare (1%) HP:0001344
4 dystonia 31 very rare (1%) HP:0001332
5 severe global developmental delay 31 very rare (1%) HP:0011344
6 inability to walk 31 very rare (1%) HP:0002540
7 hypoplasia of the olfactory bulb 31 very rare (1%) HP:0040326
8 abnormality of the basal ganglia 31 very rare (1%) HP:0002134
9 decreased thalamic volume 31 very rare (1%) HP:0012695

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
dysphagia
poor feeding
tube feeding
bulbar dystonia

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Skeletal Hands:
clenched hands

Head And Neck Head:
microcephaly (1 patient)

Neurologic Central Nervous System:
absent speech
dystonia
inability to walk
spastic quadriplegia
impaired intellectual development, severe to profound
more
Skeletal Feet:
foot deformities

Skeletal:
contractures

Clinical features from OMIM®:

618646 (Updated 05-Mar-2021)

Drugs & Therapeutics for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Search Clinical Trials , NIH Clinical Center for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Genetic Tests for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Genetic tests related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2:

# Genetic test Affiliating Genes
1 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 29 GSX2

Anatomical Context for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

MalaCards organs/tissues related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2:

40
Olfactory Bulb, Thalamus, Brain, Globus Pallidus

Publications for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Articles related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2:

# Title Authors PMID Year
1
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. 57 6
31412107 2019
2
Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction. 57
26446148 2016
3
Distinct temporal requirements for the homeobox gene Gsx2 in specifying striatal and olfactory bulb neuronal fates. 57
19709628 2009
4
The Gsh2 homeodomain gene controls multiple aspects of telencephalic development. 57
11060228 2000
5
Altered forebrain and hindbrain development in mice mutant for the Gsh-2 homeobox gene. 57
9398437 1997

Variations for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

ClinVar genetic disease variations for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GSX2 NM_133267.3(GSX2):c.26C>A (p.Ser9Ter) SNV Pathogenic 694062 rs1578004339 4:54966537-54966537 4:54100370-54100370
2 GSX2 NM_133267.3(GSX2):c.752A>G (p.Gln251Arg) SNV Pathogenic 694063 rs1578005344 4:54967926-54967926 4:54101759-54101759

UniProtKB/Swiss-Prot genetic disease variations for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 GSX2 p.Gln251Arg VAR_083533

Expression for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Search GEO for disease gene expression data for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2.

Pathways for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

GO Terms for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

Sources for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

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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