NEDSWMA
MCID: NRD108
MIFTS: 20

Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities (NEDSWMA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

MalaCards integrated aliases for Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities:

Name: Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 57 6 39
Nedswma 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
variable severity
progressive disorder
some patients may have normal early development and then show regression


HPO:

31
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive congenital onset childhood onset neonatal onset


Classifications:



Summaries for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

OMIM® : 57 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances, episodic respiratory failure, and nonspecific dysmorphic facial features. The intellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination (summary by Husain et al., 2020). (619026) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities, is also known as nedswma. An important gene associated with Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities is HPDL (4-Hydroxyphenylpyruvate Dioxygenase Like). Affiliated tissues include brain, and related phenotypes are intellectual disability and scoliosis

Related Diseases for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

Human phenotypes related to Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 scoliosis 31 very rare (1%) HP:0002650
3 nystagmus 31 very rare (1%) HP:0000639
4 high palate 31 very rare (1%) HP:0000218
5 short neck 31 very rare (1%) HP:0000470
6 developmental regression 31 very rare (1%) HP:0002376
7 hypertelorism 31 very rare (1%) HP:0000316
8 microcephaly 31 very rare (1%) HP:0000252
9 anteverted nares 31 very rare (1%) HP:0000463
10 visual impairment 31 very rare (1%) HP:0000505
11 flexion contracture 31 very rare (1%) HP:0001371
12 growth delay 31 very rare (1%) HP:0001510
13 retrognathia 31 very rare (1%) HP:0000278
14 failure to thrive in infancy 31 very rare (1%) HP:0001531
15 motor delay 31 very rare (1%) HP:0001270
16 long philtrum 31 very rare (1%) HP:0000343
17 increased serum lactate 31 very rare (1%) HP:0002151
18 decreased motor nerve conduction velocity 31 very rare (1%) HP:0003431
19 spastic paraplegia 31 very rare (1%) HP:0001258
20 long eyelashes 31 very rare (1%) HP:0000527
21 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
22 increased csf lactate 31 very rare (1%) HP:0002490
23 external ophthalmoplegia 31 very rare (1%) HP:0000544
24 respiratory failure requiring assisted ventilation 31 very rare (1%) HP:0004887
25 axial dystonia 31 very rare (1%) HP:0002530
26 increased variability in muscle fiber diameter 31 very rare (1%) HP:0003557
27 esotropia 31 very rare (1%) HP:0000565
28 drooling 31 very rare (1%) HP:0002307
29 decreased sensory nerve conduction velocity 31 very rare (1%) HP:0003448
30 elevated brain lactate level by mrs 31 very rare (1%) HP:0012707
31 exodeviation 31 very rare (1%) HP:0020049
32 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
developmental regression
global developmental delay
spastic tetraplegia
more
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
dysphagia
poor feeding

Muscle Soft Tissue:
muscle weakness
variation in fiber size seen on muscle biopsy

Head And Neck Mouth:
drooling
high-arched palate

Skeletal:
joint contractures

Head And Neck Head:
microcephaly, progressive (down to -5 sd)

Neurologic Peripheral Nervous System:
reduced motor or sensory nerve conduction velocities (in some patients)

Growth Other:
failure to thrive
poor overall growth

Head And Neck Eyes:
nystagmus
strabismus
ophthalmoplegia
long eyelashes
esotropia
more
Head And Neck Neck:
short neck

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

Head And Neck Nose:
anteverted nostrils

Laboratory Abnormalities:
increased lactate (in some patients)
variable abnormalities in mitochondrial respiratory enzyme complexes

Respiratory:
respiratory failure, acute, episodic (in some patients)

Clinical features from OMIM®:

619026 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

Anatomical Context for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities:

40
Brain

Publications for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

Articles related to Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities:

# Title Authors PMID Year
1
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. 57 6
32707086 2020

Variations for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HPDL NM_032756.3:c.342_343insTGCC Insertion Pathogenic 979207 1:45793162-45793163 1:45327490-45327491
2 HPDL NM_032756.3:c.779G>A SNV Pathogenic 979208 1:45793599-45793599 1:45327927-45327927
3 HPDL NM_032756.3:c.1024C>T SNV Pathogenic 979209 1:45793844-45793844 1:45328172-45328172
4 HPDL NM_032756.3:c.503G>A SNV Pathogenic 979210 1:45793323-45793323 1:45327651-45327651
5 HPDL NM_032756.3:c.537G>C SNV Pathogenic 979211 1:45793357-45793357 1:45327685-45327685
6 HPDL NM_032756.2:c.788C>T SNV Likely pathogenic 982397 1:45793608-45793608 1:45327936-45327936
7 HPDL NM_032756.2:c.342_345dup Duplication Likely pathogenic 982398 1:45793161-45793162 1:45327489-45327490

Expression for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities.

Pathways for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

GO Terms for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

Sources for Neurodevelopmental Disorder with Progressive Spasticity and Brain...

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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