MCID: MYS070
MIFTS: 21

Myasthenic Syndrome, Congenital, 19

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 19

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 19:

Name: Myasthenic Syndrome, Congenital, 19 57 75 29 6
Cms19 57 12 75
Myasthenic Syndrome, Congenital, Type 19 40
Congenital Myasthenic Syndrome 19 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three patients from 2 unrelated families have been reported (last curated december 2015)
possible benefit from treatment with 3,4-diaminopyridine and salbutamol


HPO:

32
myasthenic syndrome, congenital, 19:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 19

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 19: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.

MalaCards based summary : Myasthenic Syndrome, Congenital, 19, is also known as cms19. An important gene associated with Myasthenic Syndrome, Congenital, 19 is COL13A1 (Collagen Type XIII Alpha 1 Chain). Related phenotypes are high palate and retrognathia

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has material basis in homozygous mutation in the COL13A1 gene on chromosome 10q22.

OMIM : 57 Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616720)

Related Diseases for Myasthenic Syndrome, Congenital, 19

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 19

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Respiratory:
respiratory insufficiency
recurrent chest infections

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Muscle Soft Tissue:
exercise intolerance
hypotonia
muscle weakness, proximal and distal
bulbar weakness
decreased muscle bulk
more
Head And Neck Mouth:
high-arched palate

Head And Neck Neck:
neck weakness

Skeletal:
distal joint laxity (in some patients)

Head And Neck Eyes:
ptosis

Chest External Features:
pectus carinatum

Head And Neck Face:
micrognathia
retrognathia
facial weakness (in some patients)

Head And Neck Head:
poor head control

Neurologic Central Nervous System:
delayed motor development (in some patients)
learning disabilities (in some patients)

Skeletal Feet:
pes cavus (in some patients)

Skeletal Spine:
spinal rigidity (in some patients)


Clinical features from OMIM:

616720

Human phenotypes related to Myasthenic Syndrome, Congenital, 19:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 retrognathia 32 HP:0000278
3 micrognathia 32 HP:0000347
4 low-set ears 32 HP:0000369
5 ptosis 32 HP:0000508
6 pectus carinatum 32 HP:0000768
7 motor delay 32 occasional (7.5%) HP:0001270
8 bulbar palsy 32 HP:0001283
9 generalized hypotonia 32 HP:0001290
10 pes cavus 32 occasional (7.5%) HP:0001761
11 gastroesophageal reflux 32 HP:0002020
12 respiratory insufficiency 32 HP:0002093
13 poor head control 32 HP:0002421
14 recurrent lower respiratory tract infections 32 HP:0002783
15 spinal rigidity 32 occasional (7.5%) HP:0003306
16 exercise intolerance 32 HP:0003546
17 facial palsy 32 occasional (7.5%) HP:0010628
18 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 19

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 19

Genetic Tests for Myasthenic Syndrome, Congenital, 19

Genetic tests related to Myasthenic Syndrome, Congenital, 19:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 19 29 COL13A1

Anatomical Context for Myasthenic Syndrome, Congenital, 19

Publications for Myasthenic Syndrome, Congenital, 19

Variations for Myasthenic Syndrome, Congenital, 19

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL13A1 NM_001130103.1(COL13A1): c.1173delG (p.Leu392Serfs) deletion Pathogenic rs864309662 GRCh38 Chromosome 10, 69922770: 69922770
2 COL13A1 NM_001130103.1(COL13A1): c.1173delG (p.Leu392Serfs) deletion Pathogenic rs864309662 GRCh37 Chromosome 10, 71682526: 71682526
3 COL13A1 NM_001130103.1(COL13A1): c.523-1delG deletion Pathogenic rs864309663 GRCh38 Chromosome 10, 69888303: 69888303
4 COL13A1 NM_001130103.1(COL13A1): c.523-1delG deletion Pathogenic rs864309663 GRCh37 Chromosome 10, 71648059: 71648059
5 COL13A1 NM_001130103.1(COL13A1): c.714+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 71657289: 71657289
6 COL13A1 NM_001130103.1(COL13A1): c.714+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 69897533: 69897533

Expression for Myasthenic Syndrome, Congenital, 19

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 19.

Pathways for Myasthenic Syndrome, Congenital, 19

GO Terms for Myasthenic Syndrome, Congenital, 19

Sources for Myasthenic Syndrome, Congenital, 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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