NDMSBA
MCID: NRD028
MIFTS: 26

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies (NDMSBA)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodevelopmental Disorder with Progressive Microcephaly,...

MalaCards integrated aliases for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies:

Name: Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 58 76 6
Ndmsba 58 76
Plaa-Associated Neurodevelopmental Disorder 60
Plaand 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
some patients die in early childhood


HPO:

33
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies:
Onset and clinical course variable expressivity congenital onset


Classifications:



Summaries for Neurodevelopmental Disorder with Progressive Microcephaly,...

OMIM : 58 NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017). (617527)

MalaCards based summary : Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies, is also known as ndmsba. An important gene associated with Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies is PLAA (Phospholipase A2 Activating Protein). Affiliated tissues include brain and eye, and related phenotypes are high palate and intellectual disability

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies: An autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, spastic quadriparesis, global developmental delay, profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy.

Related Diseases for Neurodevelopmental Disorder with Progressive Microcephaly,...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Progressive Microcephaly,...

Human phenotypes related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
2 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
3 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
4 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
5 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
6 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
7 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
8 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
9 abnormal facial shape 60 33 frequent (33%) Frequent (79-30%) HP:0001999
10 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
11 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
12 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
13 optic atrophy 60 33 very rare (1%) Frequent (79-30%) HP:0000648
14 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
15 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
16 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
17 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
18 apnea 60 33 frequent (33%) Frequent (79-30%) HP:0002104
19 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
20 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
21 exaggerated startle response 60 33 frequent (33%) Frequent (79-30%) HP:0002267
22 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
23 hypsarrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0002521
24 tented upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0010804
25 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
26 postaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001830
27 edema of the dorsum of hands 60 33 frequent (33%) Frequent (79-30%) HP:0007514
28 cerebellar cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008278
29 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
30 long fingers 60 33 frequent (33%) Frequent (79-30%) HP:0100807
31 single transverse palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0000954
32 progressive spastic quadriplegia 60 33 frequent (33%) Frequent (79-30%) HP:0002478
33 rocker bottom foot 60 33 frequent (33%) Frequent (79-30%) HP:0001838
34 bulbar palsy 60 33 frequent (33%) Frequent (79-30%) HP:0001283
35 hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0001007
36 central hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0011398
37 contractures of the large joints 60 33 frequent (33%) Frequent (79-30%) HP:0005781
38 abnormal cortical gyration 60 33 frequent (33%) Frequent (79-30%) HP:0002536
39 hyperextensibility of the finger joints 60 33 frequent (33%) Frequent (79-30%) HP:0001187
40 limb hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0002509
41 edema of the dorsum of feet 60 33 frequent (33%) Frequent (79-30%) HP:0012098
42 leukoencephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002352
43 cerebral white matter atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012762
44 delayed myelination 60 33 frequent (33%) Frequent (79-30%) HP:0012448
45 impaired oropharyngeal swallow response 60 33 frequent (33%) Frequent (79-30%) HP:0031162
46 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
47 hyperhidrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000975
48 seizures 60 33 very rare (1%) Occasional (29-5%) HP:0001250
49 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
50 bulbar signs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002483

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive

Skeletal Spine:
kyphosis

Head And Neck Nose:
short nose

Abdomen Gastrointestinal:
feeding difficulties
poor swallowing
poor sucking

Skin Nails Hair Hair:
hirsutism

Skeletal:
contractures of the large joints
distal contractures
hyperextensibility of the small joints

Head And Neck Mouth:
high-arched palate
tented upper lip

Head And Neck Head:
microcephaly, progressive

Skin Nails Hair Skin:
hyperhidrosis of the palms and feet
edema of the hands and feet

Head And Neck Eyes:
nystagmus
optic atrophy (in some patients)
roving eye movements

Respiratory:
respiratory insufficiency
apnea

Neurologic Central Nervous System:
global developmental delay
rigidity
exaggerated startle response
delayed myelination
enlarged ventricles
more
Head And Neck Face:
long philtrum
micrognathia
flat philtrum

Skeletal Hands:
long fingers
postaxial polydactyly
single palmar creases

Muscle Soft Tissue:
central hypotonia
bulbar weakness
peripheral hypertonia

Skeletal Feet:
postaxial polydactyly
rocker bottom feet

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some patients)

Chest External Features:
chest deformities (in some patients)

Clinical features from OMIM:

617527

MGI Mouse Phenotypes related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 IFT74 PLAA

Drugs & Therapeutics for Neurodevelopmental Disorder with Progressive Microcephaly,...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies

Genetic Tests for Neurodevelopmental Disorder with Progressive Microcephaly,...

Anatomical Context for Neurodevelopmental Disorder with Progressive Microcephaly,...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies:

42
Brain, Eye

Publications for Neurodevelopmental Disorder with Progressive Microcephaly,...

Articles related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies:

# Title Authors Year
1
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. ( 28413018 )
2017
2
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. ( 28007986 )
2017

Variations for Neurodevelopmental Disorder with Progressive Microcephaly,...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies:

76
# Symbol AA change Variation ID SNP ID
1 PLAA p.Gly23Val VAR_079276 rs747956857
2 PLAA p.Leu752Phe VAR_079277 rs111416745

ClinVar genetic disease variations for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLAA NM_001031689.2(PLAA): c.2254C> T (p.Leu752Phe) single nucleotide variant Pathogenic rs1114167457 GRCh37 Chromosome 9, 26905643: 26905643
2 PLAA NM_001031689.2(PLAA): c.2254C> T (p.Leu752Phe) single nucleotide variant Pathogenic rs1114167457 GRCh38 Chromosome 9, 26905645: 26905645
3 PLAA NM_001031689.2(PLAA): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs747956857 GRCh37 Chromosome 9, 26946976: 26946976
4 PLAA NM_001031689.2(PLAA): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs747956857 GRCh38 Chromosome 9, 26946978: 26946978
5 PLAA NM_001031689.2(PLAA): c.68dup (p.Leu24Profs) duplication Pathogenic rs1554662408 GRCh38 Chromosome 9, 26946978: 26946978
6 PLAA NM_001031689.2(PLAA): c.68dup (p.Leu24Profs) duplication Pathogenic rs1554662408 GRCh37 Chromosome 9, 26946976: 26946976

Expression for Neurodevelopmental Disorder with Progressive Microcephaly,...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies.

Pathways for Neurodevelopmental Disorder with Progressive Microcephaly,...

GO Terms for Neurodevelopmental Disorder with Progressive Microcephaly,...

Sources for Neurodevelopmental Disorder with Progressive Microcephaly,...

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