DMJDS1
MCID: DNC007
MIFTS: 28

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 (DMJDS1)

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

Aliases & Classifications for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

MalaCards integrated aliases for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1:

Name: Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 57 73 29 6
Microcephaly, Seizures, Spasticity, and Brain Calcifications 57 73
Dmjds1 57 73
Missbc 57 73
Microcephaly, Seizures, Spasticity, and Brain Calcifications; Missbc 57
Microcephaly with Spastic Quadriplegia 73

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy


HPO:

31
diencephalic-mesencephalic junction dysplasia syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

OMIM® : 57 Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present (summary by Aran et al., 2016 and Guemez-Gamboa et al., 2018). (251280) (Updated 05-Mar-2021)

MalaCards based summary : Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1, also known as microcephaly, seizures, spasticity, and brain calcifications, is related to microcephaly with spastic quadriplegia and diencephalic-mesencephalic junction dysplasia syndrome 2. An important gene associated with Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 is PCDH12 (Protocadherin 12). Affiliated tissues include brain and hypothalamus, and related phenotypes are hyperreflexia and global developmental delay

UniProtKB/Swiss-Prot : 73 Diencephalic-mesencephalic junction dysplasia syndrome 1: An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications.

Related Diseases for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

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 Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly with spastic quadriplegia 11.6
2 diencephalic-mesencephalic junction dysplasia syndrome 2 10.9
3 diencephalic-mesencephalic junction dysplasia 9.5 PCDH12 DELE1

Symptoms & Phenotypes for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Human phenotypes related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 global developmental delay 31 HP:0001263
3 visual impairment 31 HP:0000505
4 spastic tetraplegia 31 HP:0002510
5 intrauterine growth retardation 31 HP:0001511
6 dystonia 31 HP:0001332
7 intellectual disability, profound 31 HP:0002187
8 postnatal microcephaly 31 HP:0005484
9 muscular hypotonia of the trunk 31 HP:0008936
10 progressive microcephaly 31 HP:0000253
11 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
absent speech
dystonia
intellectual disability, profound
enlarged ventricles
more
Head And Neck Neck:
short neck

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Nose:
prominent nasal bridge
broad nasal bridge

Growth Other:
intrauterine growth retardation (iugr)

Head And Neck Head:
microcephaly, progressive (down to -8 sd)

Metabolic Features:
unexplained fever in early childhood (in some patients)

Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
strabismus
bushy eyebrows
visual impairment, severe
poor visual tracking

Head And Neck Face:
long philtrum
broad chin
bitemporal narrowing
flat philtrum

Head And Neck Mouth:
thin upper lip

Muscle Soft Tissue:
axial hypotonia

Cardiovascular Vascular:
vasomotor instability (in some patients)

Clinical features from OMIM®:

251280 (Updated 05-Mar-2021)

Drugs & Therapeutics for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Search Clinical Trials , NIH Clinical Center for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Genetic Tests for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Genetic tests related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1:

# Genetic test Affiliating Genes
1 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 29 PCDH12

Anatomical Context for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

MalaCards organs/tissues related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1:

40
Brain, Hypothalamus

Publications for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Articles related to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1:

(show all 13)
# Title Authors PMID Year
1
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. 6 57
27164683 2016
2
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. 6 57
22822038 2012
3
Familial microcephaly with severe neurological deficits: a description of five affected siblings. 6 57
7774041 1995
4
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. 6
30178464 2018
5
Brain calcifications and PCDH12 variants. 57
28804758 2017
6
Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings. 57
9805130 1998
7
Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome. 57
8368248 1993
8
Autosomal recessive microcephaly with early onset seizures and spasticity. 57
1395086 1992
9
Allan-Herndon syndrome--or X-linked cerebral palsy? 57
2035542 1991
10
Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. 57
3307411 1987
11
Recurrence risks in families of children with symmetrical spasticity. 57
870357 1977
12
Familial cerebral palsy. 57
13681498 1961
13
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. 61
33527719 2021

Variations for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

ClinVar genetic disease variations for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCDH12 NM_016580.3(PCDH12):c.2515C>T (p.Arg839Ter) SNV Pathogenic 440889 rs375346212 5:141334902-141334902 5:141955337-141955337
2 PCDH12 PCDH12, ARG151TER SNV Pathogenic 694061
3 PCDH12 NM_016580.3(PCDH12):c.2765_2766del (p.Pro922fs) Deletion Pathogenic 684719 rs1596646165 5:141334651-141334652 5:141955086-141955087
4 PCDH12 NM_016580.3(PCDH12):c.2511del (p.Ser838fs) Deletion Pathogenic 684718 rs1596646372 5:141334906-141334906 5:141955341-141955341
5 PCDH12 NM_016580.3(PCDH12):c.2734C>T (p.Arg912Trp) SNV Uncertain significance 587639 rs574087581 5:141334683-141334683 5:141955118-141955118
6 DELE1 NM_016580.4(PCDH12):c.3445G>T (p.Asp1149Tyr) SNV Uncertain significance 816886 rs762172327 5:141325056-141325056 5:141945491-141945491

Expression for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Search GEO for disease gene expression data for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1.

Pathways for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

GO Terms for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

Sources for Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

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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