NEDSG
MCID: NRD053
MIFTS: 21

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 72 6
Nedsg 57 72

Characteristics:

OMIM®:

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


HPO:

31
neurodevelopmental disorder with spasticity and poor growth:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Spasticity and Poor Growth

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder with spasticity and poor growth: An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities.

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 brain, and related phenotypes are abnormal facial shape and abnormality of the cerebral white matter

More information from OMIM: 618076

Related Diseases for Neurodevelopmental Disorder with Spasticity and Poor Growth

Symptoms & Phenotypes for Neurodevelopmental Disorder with Spasticity and Poor Growth

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

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 very rare (1%) HP:0001999
2 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
3 delayed myelination 31 very rare (1%) HP:0012448
4 seizure 31 very rare (1%) HP:0001250
5 intellectual disability 31 HP:0001249
6 spasticity 31 HP:0001257
7 failure to thrive 31 HP:0001508
8 clonus 31 HP:0002169
9 constipation 31 HP:0002019
10 microcephaly 31 HP:0000252
11 short stature 31 HP:0004322
12 flexion contracture 31 HP:0001371
13 absent speech 31 HP:0001344
14 poor head control 31 HP:0002421
15 feeding difficulties 31 HP:0011968
16 oculomotor apraxia 31 HP:0000657
17 intention tremor 31 HP:0002080
18 muscular hypotonia of the trunk 31 HP:0008936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
clonus
poor head control
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 (Updated 05-Apr-2021)

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:

40
Eye, Brain

Publications for Neurodevelopmental Disorder with Spasticity and Poor Growth

Articles related to Neurodevelopmental Disorder with Spasticity and Poor Growth:

# Title Authors PMID Year
1
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 57 6
29868776 2018
2
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 6 57
27431290 2017

Variations for Neurodevelopmental Disorder with Spasticity and Poor Growth

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UFC1 NM_016406.4(UFC1):c.317C>T (p.Thr106Ile) SNV Pathogenic 559447 rs1553232770 GRCh37: 1:161127468-161127468
GRCh38: 1:161157678-161157678
2 UFC1 NM_016406.4(UFC1):c.68G>A (p.Arg23Gln) SNV Pathogenic 559448 rs1181612302 GRCh37: 1:161123855-161123855
GRCh38: 1:161154065-161154065
3 UFC1 NM_016406.4(UFC1):c.153C>A (p.Asn51Lys) SNV Uncertain significance 1029601 GRCh37: 1:161126769-161126769
GRCh38: 1:161156979-161156979
4 UFC1 NM_016406.4(UFC1):c.41C>T (p.Pro14Leu) SNV Uncertain significance 1033413 GRCh37: 1:161123828-161123828
GRCh38: 1:161154038-161154038

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Spasticity and Poor Growth:

72
# Symbol AA change Variation ID SNP ID
1 UFC1 p.Arg23Gln VAR_081216 rs118161230
2 UFC1 p.Thr106Ile VAR_081217 rs155323277

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