NEDCASB
MCID: NRD115
MIFTS: 21

Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities (NEDCASB)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities:

Name: Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities 57 6
Nedcasb 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in utero or at birth
onset of cardiomyopathy in childhood
cardiomyopathy is progressive


HPO:

31
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset neonatal onset


Classifications:



Summaries for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

OMIM® : 57 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is an autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. Most affected individuals also develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Additional more variable features include dysmorphic facies and axonal sensory peripheral neuropathy. Brain imaging tends to show thin corpus callosum and polymicrogyria (summary by Garcia-Cazorla et al., 2020). (619121) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities, is also known as nedcasb. An important gene associated with Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities is SHMT2 (Serine Hydroxymethyltransferase 2). Affiliated tissues include brain, eye and heart, and related phenotypes are scoliosis and microcephaly

Related Diseases for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

Human phenotypes related to Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 microcephaly 31 very rare (1%) HP:0000252
3 stereotypy 31 very rare (1%) HP:0000733
4 spastic tetraplegia 31 very rare (1%) HP:0002510
5 intellectual disability, severe 31 very rare (1%) HP:0010864
6 strabismus 31 very rare (1%) HP:0000486
7 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
8 growth delay 31 very rare (1%) HP:0001510
9 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
10 downturned corners of mouth 31 very rare (1%) HP:0002714
11 highly arched eyebrow 31 very rare (1%) HP:0002553
12 thin upper lip vermilion 31 very rare (1%) HP:0000219
13 long philtrum 31 very rare (1%) HP:0000343
14 ventriculomegaly 31 very rare (1%) HP:0002119
15 intellectual disability, moderate 31 very rare (1%) HP:0002342
16 short philtrum 31 very rare (1%) HP:0000322
17 adducted thumb 31 very rare (1%) HP:0001181
18 dysmetria 31 very rare (1%) HP:0001310
19 proximal placement of thumb 31 very rare (1%) HP:0009623
20 babinski sign 31 very rare (1%) HP:0003487
21 bifid uvula 31 very rare (1%) HP:0000193
22 complete duplication of thumb phalanx 31 very rare (1%) HP:0009943
23 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
24 aggressive behavior 31 very rare (1%) HP:0000718
25 expressive language delay 31 very rare (1%) HP:0002474
26 2-3 toe syndactyly 31 very rare (1%) HP:0004691
27 secundum atrial septal defect 31 very rare (1%) HP:0001684
28 drooling 31 very rare (1%) HP:0002307
29 truncal ataxia 31 very rare (1%) HP:0002078
30 sensory axonal neuropathy 31 very rare (1%) HP:0003390
31 slow saccadic eye movements 31 very rare (1%) HP:0000514
32 facial diplegia 31 very rare (1%) HP:0001349
33 conjunctival hyperemia 31 very rare (1%) HP:0030953
34 scissor gait 31 very rare (1%) HP:0012407
35 perisylvian polymicrogyria 31 very rare (1%) HP:0012650
36 delayed ability to walk 31 very rare (1%) HP:0031936
37 hyperreflexia 31 HP:0001347

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
global developmental delay
hypertonia
dysmetria
dystonia
more
Head And Neck Face:
retrognathia
long philtrum
short philtrum
dysmorphic facial features

Cardiovascular Heart:
atrial septal defect
hypertrophic cardiomyopathy
ragged red fibers seen on cardiac muscle biopsy

Head And Neck Mouth:
drooling
thin upper lip
orofacial dyspraxia

Growth Other:
poor overall growth

Neurologic Peripheral Nervous System:
sensory axonal neuropathy (in some patients)

Head And Neck Eyes:
strabismus
long eyelashes
high-arched eyebrows
slow saccades
long palpebral fissures

Neurologic Behavioral Psychiatric Manifestations:
anxiety
aggressive behavior
autistic features
adhd
stereotypies

Skeletal Feet:
2-3 toe syndactyly

Skeletal Hands:
short fifth finger
low-set thumbs

Head And Neck Head:
microcephaly, mild

Clinical features from OMIM®:

619121 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

Anatomical Context for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities:

40
Brain, Eye, Heart

Publications for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

Articles related to Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities:

# Title Authors PMID Year
1
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. 57 6
33015733 2020

Variations for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SHMT2 NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala) SNV Pathogenic 988632 12:57628124-57628124 12:57234341-57234341
2 SHMT2 NM_005412.6(SHMT2):c.1124-4_1126delinsA Indel Pathogenic 988634 12:57627528-57627534 12:57233745-57233751
3 SHMT2 NM_005412.6(SHMT2):c.1304A>C (p.Gln435Pro) SNV Pathogenic 988635 12:57627810-57627810 12:57234027-57234027
4 SHMT2 NM_005412.6(SHMT2):c.469C>T (p.Pro157Ser) SNV Pathogenic 988636 12:57625653-57625653 12:57231870-57231870
5 SHMT2 NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp) SNV Pathogenic 988638 12:57627543-57627543 12:57233760-57233760
6 SHMT2 NM_005412.6(SHMT2):c.1267G>A (p.Gly423Ser) SNV Pathogenic 988633 12:57627675-57627675 12:57233892-57233892
7 SHMT2 NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg) SNV Pathogenic 988637 12:57626038-57626038 12:57232255-57232255

Expression for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities.

Pathways for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

GO Terms for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

Sources for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and...

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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