NMOAS
MCID: NRM024
MIFTS: 20

Neuromuscular Oculoauditory Syndrome (NMOAS)

Categories: Ear diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neuromuscular Oculoauditory Syndrome

MalaCards integrated aliases for Neuromuscular Oculoauditory Syndrome:

Name: Neuromuscular Oculoauditory Syndrome 57 73
Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures 57 73 6
Nmoas 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
based on 4 patients in one report (last curated january 2020)


HPO:

31
neuromuscular oculoauditory syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuromuscular Oculoauditory Syndrome

UniProtKB/Swiss-Prot : 73 Neuromuscular oculoauditory syndrome: An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures.

MalaCards based summary : Neuromuscular Oculoauditory Syndrome, is also known as neuromuscular disease and ocular or auditory anomalies with or without seizures. An important gene associated with Neuromuscular Oculoauditory Syndrome is DHX16 (DEAH-Box Helicase 16). Affiliated tissues include eye, and related phenotypes are agenesis of corpus callosum and global developmental delay

More information from OMIM: 618733

Related Diseases for Neuromuscular Oculoauditory Syndrome

Symptoms & Phenotypes for Neuromuscular Oculoauditory Syndrome

Human phenotypes related to Neuromuscular Oculoauditory Syndrome:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 very rare (1%) HP:0001274
2 global developmental delay 31 very rare (1%) HP:0001263
3 sensorineural hearing impairment 31 very rare (1%) HP:0000407
4 epicanthus 31 very rare (1%) HP:0000286
5 elevated serum creatine kinase 31 very rare (1%) HP:0003236
6 emg: myopathic abnormalities 31 very rare (1%) HP:0003458
7 talipes equinovarus 31 very rare (1%) HP:0001762
8 areflexia 31 very rare (1%) HP:0001284
9 multiple renal cysts 31 very rare (1%) HP:0005562
10 wrist flexion contracture 31 very rare (1%) HP:0001239
11 infantile spasms 31 very rare (1%) HP:0012469
12 poor head control 31 very rare (1%) HP:0002421
13 respiratory distress 31 very rare (1%) HP:0002098
14 posteriorly rotated ears 31 very rare (1%) HP:0000358
15 knee flexion contracture 31 very rare (1%) HP:0006380
16 calf muscle hypertrophy 31 very rare (1%) HP:0008981
17 generalized hypotonia 31 very rare (1%) HP:0001290
18 unsteady gait 31 very rare (1%) HP:0002317
19 aspiration 31 very rare (1%) HP:0002835
20 sensory axonal neuropathy 31 very rare (1%) HP:0003390
21 retinal pigment epithelial mottling 31 very rare (1%) HP:0007814
22 muscle fiber necrosis 31 very rare (1%) HP:0003713
23 slow saccadic eye movements 31 very rare (1%) HP:0000514
24 reduced renal corticomedullary differentiation 31 very rare (1%) HP:0005565
25 peripheral hypomyelination 31 very rare (1%) HP:0007182
26 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
27 chorioretinal lacunae 31 very rare (1%) HP:0007858
28 simple ear 31 very rare (1%) HP:0020206
29 intellectual disability 31 HP:0001249
30 decreased nerve conduction velocity 31 HP:0000762
31 periventricular heterotopia 31 HP:0007165
32 decreased amplitude of sensory action potentials 31 HP:0007078

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
infantile spasms
hypotonia
developmental delay
agenesis of the corpus callosum
more
Muscle Soft Tissue:
myopathy

Skeletal Feet:
talipes equinovarus

Neurologic Peripheral Nervous System:
neuropathy

Skeletal Hands:
flexion contractures

Genitourinary Kidneys:
cystic kidneys

Head And Neck Eyes:
nystagmus
blindness
retinopathy
chorioretinal lacunae
epicanthal folds

Growth Other:
growth delay

Head And Neck Ears:
posteriorly rotated ears
sensorineural hearing loss
simple auricles

Skeletal Limbs:
joint contractures
short limbs

Abdomen Gastrointestinal:
feeding problems

Clinical features from OMIM®:

618733 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neuromuscular Oculoauditory Syndrome

Search Clinical Trials , NIH Clinical Center for Neuromuscular Oculoauditory Syndrome

Genetic Tests for Neuromuscular Oculoauditory Syndrome

Anatomical Context for Neuromuscular Oculoauditory Syndrome

MalaCards organs/tissues related to Neuromuscular Oculoauditory Syndrome:

40
Eye

Publications for Neuromuscular Oculoauditory Syndrome

Articles related to Neuromuscular Oculoauditory Syndrome:

# Title Authors PMID Year
1
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. 6 57
31256877 2019

Variations for Neuromuscular Oculoauditory Syndrome

ClinVar genetic disease variations for Neuromuscular Oculoauditory Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX16 NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) SNV Pathogenic 691931 rs1582940678 6:30627820-30627820 6:30660043-30660043
2 DHX16 NM_003587.5(DHX16):c.2091G>T (p.Gln697His) SNV Pathogenic 691932 rs1582931640 6:30624786-30624786 6:30657009-30657009
3 DHX16 NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu) SNV Pathogenic 691933 rs1582953009 6:30632615-30632615 6:30664838-30664838
4 DHX16 NM_003587.5(DHX16):c.2021C>T (p.Thr674Met) SNV Pathogenic 691934 rs1582931908 6:30624856-30624856 6:30657079-30657079

UniProtKB/Swiss-Prot genetic disease variations for Neuromuscular Oculoauditory Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 DHX16 p.Gly427Glu VAR_083621

Expression for Neuromuscular Oculoauditory Syndrome

Search GEO for disease gene expression data for Neuromuscular Oculoauditory Syndrome.

Pathways for Neuromuscular Oculoauditory Syndrome

GO Terms for Neuromuscular Oculoauditory Syndrome

Sources for Neuromuscular Oculoauditory Syndrome

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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