NDMSBA
MCID: NRD028
MIFTS: 22

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

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal 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 57 75 6
Ndmsba 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 57 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 low-set ears and high palate

UniProtKB/Swiss-Prot : 75 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,...

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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

46
# 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:

41
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:

75
# 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 rs1114167458 GRCh38 Chromosome 9, 26946978: 26946978
6 PLAA NM_001031689.2(PLAA): c.68dup (p.Leu24Profs) duplication Pathogenic rs1114167458 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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