NEDSG
MCID: NRD053
MIFTS: 15

Neurodevelopmental Disorder with Spasticity and Poor Growth (NEDSG)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Spasticity and Poor Growth

MalaCards integrated aliases for Neurodevelopmental Disorder with Spasticity and Poor Growth:

Name: Neurodevelopmental Disorder with Spasticity and Poor Growth 57 6
Nedsg 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



Summaries for Neurodevelopmental Disorder with Spasticity and Poor Growth

MalaCards based summary : Neurodevelopmental Disorder with Spasticity and Poor Growth, is also known as nedsg. An important gene associated with Neurodevelopmental Disorder with Spasticity and Poor Growth is UFC1 (Ubiquitin-Fold Modifier Conjugating Enzyme 1). Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

Description from OMIM: 618076

Related Diseases for Neurodevelopmental Disorder with Spasticity and Poor Growth

Symptoms & Phenotypes for Neurodevelopmental Disorder with Spasticity and Poor Growth

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
clonus
intention tremor
more
Abdomen Gastrointestinal:
constipation
poor feeding
gastric reflux

Growth Height:
short stature

Skeletal:
contractures

Head And Neck Face:
dysmorphic facial features, variable (in some patients)

Growth Other:
failure to thrive
poor growth

Head And Neck Head:
microcephaly

Head And Neck Eyes:
oculomotor apraxia
eye movement abnormalities
poor fixation

Muscle Soft Tissue:
axial hypotonia


Clinical features from OMIM:

618076

Human phenotypes related to Neurodevelopmental Disorder with Spasticity and Poor Growth:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 very rare (1%) HP:0001250
3 spasticity 32 HP:0001257
4 failure to thrive 32 HP:0001508
5 constipation 32 HP:0002019
6 clonus 32 HP:0002169
7 feeding difficulties 32 HP:0011968
8 absent speech 32 HP:0001344
9 growth delay 32 HP:0001510
10 intention tremor 32 HP:0002080
11 oculomotor apraxia 32 HP:0000657
12 poor head control 32 HP:0002421
13 abnormality of the cerebral white matter 32 very rare (1%) HP:0002500
14 delayed myelination 32 very rare (1%) HP:0012448

Drugs & Therapeutics for Neurodevelopmental Disorder with Spasticity and Poor Growth

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Spasticity and Poor Growth

Genetic Tests for Neurodevelopmental Disorder with Spasticity and Poor Growth

Anatomical Context for Neurodevelopmental Disorder with Spasticity and Poor Growth

MalaCards organs/tissues related to Neurodevelopmental Disorder with Spasticity and Poor Growth:

41
Eye

Publications for Neurodevelopmental Disorder with Spasticity and Poor Growth

Variations for Neurodevelopmental Disorder with Spasticity and Poor Growth

ClinVar genetic disease variations for Neurodevelopmental Disorder with Spasticity and Poor Growth:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UFC1 NM_016406.3(UFC1): c.317C> T (p.Thr106Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 161127468: 161127468
2 UFC1 NM_016406.3(UFC1): c.317C> T (p.Thr106Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 161157678: 161157678
3 UFC1 NM_016406.3(UFC1): c.68G> A (p.Arg23Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 161123855: 161123855
4 UFC1 NM_016406.3(UFC1): c.68G> A (p.Arg23Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 161154065: 161154065

Expression for Neurodevelopmental Disorder with Spasticity and Poor Growth

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Spasticity and Poor Growth.

Pathways for Neurodevelopmental Disorder with Spasticity and Poor Growth

GO Terms for Neurodevelopmental Disorder with Spasticity and Poor Growth

Sources for Neurodevelopmental Disorder with Spasticity and Poor Growth

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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