NEDSCAC
MCID: NRD122
MIFTS: 15

Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia (NEDSCAC)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia:

Name: Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia 57 6
Nedscac 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or early childhood


Classifications:



External Ids:

OMIM® 57 619286

Summaries for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

OMIM® : 57 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) is an autosomal recessive disorder characterized by global developmental delay with variably impaired intellectual development. More severely affected individuals are nonverbal and do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia with variable additional abnormalities, such as thin corpus callosum, cerebral atrophy, and hypomyelination (summary by Meng et al., 2021). (619286) (Updated 20-May-2021)

MalaCards based summary : Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia, is also known as nedscac. An important gene associated with Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia is MED27 (Mediator Complex Subunit 27). Affiliated tissues include tongue and brain.

Related Diseases for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
global developmental delay
dystonia
cerebral atrophy
more
Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Head And Neck Mouth:
protruding tongue
drooling
tongue fasciculations

Head And Neck Ears:
large ears

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
frontal bossing
micrognathia
dysmorphic facial features, variable

Head And Neck Eyes:
hypertelorism
long eyelashes
cataracts
prominent eyebrows

Head And Neck Nose:
broad nose
flat nasal bridge

Growth Other:
poor overall growth

Clinical features from OMIM®:

619286 (Updated 20-May-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia

Genetic Tests for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

Anatomical Context for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia:

40
Tongue, Brain

Publications for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

Articles related to Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia:

# Title Authors PMID Year
1
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. 6 57
33443317 2021

Variations for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED27 NM_004269.4(MED27):c.776C>T (p.Pro259Leu) SNV Pathogenic 1064746 GRCh37: 9:134738475-134738475
GRCh38: 9:131863088-131863088
2 MED27 NM_004269.4(MED27):c.188T>G (p.Val63Gly) SNV Pathogenic 1064747 GRCh37: 9:134955044-134955044
GRCh38: 9:132079657-132079657
3 MED27 NM_004269.4(MED27):c.392_393del (p.Gln131fs) Deletion Pathogenic 1064748 GRCh37: 9:134889810-134889811
GRCh38: 9:132014423-132014424
4 MED27 NM_004269.4(MED27):c.839C>T (p.Pro280Leu) SNV Pathogenic 1064749 GRCh37: 9:134736022-134736022
GRCh38: 9:131860635-131860635
5 MED27 NM_004269.4(MED27):c.871G>A (p.Gly291Ser) SNV Pathogenic 1064750 GRCh37: 9:134735990-134735990
GRCh38: 9:131860603-131860603
6 MED27 NM_004269.4(MED27):c.682-2A>G SNV Pathogenic 1064751 GRCh37: 9:134759488-134759488
GRCh38: 9:131884101-131884101
7 MED27 NM_004269.4(MED27):c.565_566del (p.Met189fs) Deletion Pathogenic 1064752 GRCh37: 9:134814775-134814776
GRCh38: 9:131939388-131939389

Expression for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia.

Pathways for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

GO Terms for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

Sources for Neurodevelopmental Disorder with Spasticity, Cataracts, and...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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