NDMSBA
MCID: NRD028
MIFTS: 24

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 seizures and optic atrophy

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:

33 (show all 34)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 optic atrophy 33 very rare (1%) HP:0000648
3 low-set ears 33 HP:0000369
4 high palate 33 HP:0000218
5 nystagmus 33 HP:0000639
6 hyperhidrosis 33 HP:0000975
7 intellectual disability 33 HP:0001249
8 dysphagia 33 HP:0002015
9 respiratory insufficiency 33 HP:0002093
10 global developmental delay 33 HP:0001263
11 smooth philtrum 33 HP:0000319
12 hypertonia 33 HP:0001276
13 long philtrum 33 HP:0000343
14 micrognathia 33 HP:0000347
15 edema 33 HP:0000969
16 apnea 33 HP:0002104
17 ventriculomegaly 33 HP:0002119
18 cerebral cortical atrophy 33 HP:0002120
19 rigidity 33 HP:0002063
20 tented upper lip vermilion 33 HP:0010804
21 hypoplasia of the corpus callosum 33 HP:0002079
22 long fingers 33 HP:0100807
23 single transverse palmar crease 33 HP:0000954
24 rocker bottom foot 33 HP:0001838
25 poor suck 33 HP:0002033
26 bulbar palsy 33 HP:0001283
27 hypomimic face 33 HP:0000338
28 posteriorly rotated ears 33 HP:0000358
29 exaggerated startle response 33 HP:0002267
30 central hypotonia 33 HP:0011398
31 contractures of the large joints 33 HP:0005781
32 delayed myelination 33 HP:0012448
33 postaxial polydactyly 33 HP:0100259
34 progressive leukoencephalopathy 33 HP:0006980

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,...

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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....