MCID: NRD028
MIFTS: 18

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies

Categories: Genetic 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


Classifications:



External Ids:

OMIM 57 617527
MeSH 44 D065886

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 phenotype is respiratory system.

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

Skeletal Hands:
long fingers
postaxial polydactyly
single palmar creases

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

Skin Nails Hair Hair:
hirsutism

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:

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

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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11 DGIdb
17 ExPASy
19 FMA
28 GO
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36 IUPHAR
37 KEGG
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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