MCID: MYP038
MIFTS: 20

Myopathy, Congenital, Compton-North

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Myopathy, Congenital, Compton-North

MalaCards integrated aliases for Myopathy, Congenital, Compton-North:

Name: Myopathy, Congenital, Compton-North 57 75 29 13 6 40 73
Mypcn 57 75
Congenital Lethal Myopathy, Compton-North Type 59
Compton-North Congenital Myopathy 12

Characteristics:

Orphanet epidemiological data:

59
congenital lethal myopathy, compton-north type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

32
myopathy, congenital, compton-north:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Congenital, Compton-North

UniProtKB/Swiss-Prot : 75 Myopathy, congenital, Compton-North: A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band.

MalaCards based summary : Myopathy, Congenital, Compton-North, is also known as mypcn. An important gene associated with Myopathy, Congenital, Compton-North is CNTN1 (Contactin 1). Affiliated tissues include skeletal muscle, and related phenotypes are hypertelorism and high palate

Description from OMIM: 612540

Related Diseases for Myopathy, Congenital, Compton-North

Symptoms & Phenotypes for Myopathy, Congenital, Compton-North

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Skeletal Hands:
arachnodactyly
overlapping fingers
camptodactyly

Abdomen Gastrointestinal:
poor suck
poor feeding

Skeletal:
joint contractures

Neurologic Central Nervous System:
absent deep tendon reflexes
no spontaneous movements
absent moro reflex

Growth Weight:
low birth weight

Muscle Soft Tissue:
hypotonia, neonatal
reduced muscle mass
skeletal muscle biopsy shows minor variation in fiber size
disruption of sarcomeres with disorganization of the z band
decreased mitochondria
more
Prenatal Manifestations Delivery:
prematurity

Respiratory:
respiratory insufficiency due to muscle weakness

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Face:
oval face

Head And Neck Mouth:
high arched palate

Head And Neck Head:
scaphocephaly

Laboratory Abnormalities:
normal serum creatine kinase

Prenatal Manifestations Movement:
decreased fetal movements
fetal akinesia


Clinical features from OMIM:

612540

Human phenotypes related to Myopathy, Congenital, Compton-North:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 high palate 32 HP:0000218
3 neonatal hypotonia 32 HP:0001319
4 respiratory insufficiency due to muscle weakness 32 HP:0002747
5 dolichocephaly 32 HP:0000268
6 high, narrow palate 32 HP:0002705
7 arachnodactyly 32 HP:0001166
8 polyhydramnios 32 HP:0001561
9 areflexia 32 HP:0001284
10 decreased fetal movement 32 HP:0001558
11 overlapping fingers 32 HP:0010557
12 poor suck 32 HP:0002033
13 camptodactyly 32 HP:0012385
14 small for gestational age 32 HP:0001518
15 akinesia 32 HP:0002304
16 oval face 32 HP:0000300
17 joint contracture of the hand 32 HP:0009473
18 fetal akinesia sequence 32 HP:0001989
19 scaphocephaly 32 HP:0030799

Drugs & Therapeutics for Myopathy, Congenital, Compton-North

Search Clinical Trials , NIH Clinical Center for Myopathy, Congenital, Compton-North

Genetic Tests for Myopathy, Congenital, Compton-North

Genetic tests related to Myopathy, Congenital, Compton-North:

# Genetic test Affiliating Genes
1 Myopathy, Congenital, Compton-North 29 CNTN1

Anatomical Context for Myopathy, Congenital, Compton-North

MalaCards organs/tissues related to Myopathy, Congenital, Compton-North:

41
Skeletal Muscle

Publications for Myopathy, Congenital, Compton-North

Variations for Myopathy, Congenital, Compton-North

ClinVar genetic disease variations for Myopathy, Congenital, Compton-North:

6
(show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNTN1 NM_001843.3(CNTN1): c.871dupT (p.Ser291Phefs) duplication Pathogenic rs587776718 GRCh37 Chromosome 12, 41327566: 41327566
2 CNTN1 NM_001843.3(CNTN1): c.871dupT (p.Ser291Phefs) duplication Pathogenic rs587776718 GRCh38 Chromosome 12, 40933764: 40933764
3 CNTN1 NM_001843.3(CNTN1): c.207C> T (p.Ala69=) single nucleotide variant Benign/Likely benign rs7297132 GRCh38 Chromosome 12, 40918751: 40918751
4 CNTN1 NM_001843.3(CNTN1): c.207C> T (p.Ala69=) single nucleotide variant Benign/Likely benign rs7297132 GRCh37 Chromosome 12, 41312553: 41312553
5 CNTN1 NM_001843.3(CNTN1): c.90T> C (p.His30=) single nucleotide variant Benign rs61748365 GRCh37 Chromosome 12, 41303903: 41303903
6 CNTN1 NM_001843.3(CNTN1): c.90T> C (p.His30=) single nucleotide variant Benign rs61748365 GRCh38 Chromosome 12, 40910101: 40910101
7 CNTN1 NM_001843.3(CNTN1): c.804-8A> G single nucleotide variant Likely benign rs56172264 GRCh37 Chromosome 12, 41327491: 41327491
8 CNTN1 NM_001843.3(CNTN1): c.804-8A> G single nucleotide variant Likely benign rs56172264 GRCh38 Chromosome 12, 40933689: 40933689
9 CNTN1 NM_001843.3(CNTN1): c.1401T> C (p.Gly467=) single nucleotide variant Benign/Likely benign rs61759480 GRCh37 Chromosome 12, 41337420: 41337420
10 CNTN1 NM_001843.3(CNTN1): c.1401T> C (p.Gly467=) single nucleotide variant Benign/Likely benign rs61759480 GRCh38 Chromosome 12, 40943618: 40943618
11 CNTN1 NM_001843.3(CNTN1): c.2598C> G (p.Ala866=) single nucleotide variant Benign/Likely benign rs140462332 GRCh37 Chromosome 12, 41419026: 41419026
12 CNTN1 NM_001843.3(CNTN1): c.2598C> G (p.Ala866=) single nucleotide variant Benign/Likely benign rs140462332 GRCh38 Chromosome 12, 41025224: 41025224
13 CNTN1 NM_001843.3(CNTN1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs148239965 GRCh37 Chromosome 12, 41421733: 41421733
14 CNTN1 NM_001843.3(CNTN1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs148239965 GRCh38 Chromosome 12, 41027931: 41027931
15 CNTN1 NM_001843.3(CNTN1): c.147T> C (p.Asn49=) single nucleotide variant Likely benign rs61754100 GRCh37 Chromosome 12, 41312493: 41312493
16 CNTN1 NM_001843.3(CNTN1): c.147T> C (p.Asn49=) single nucleotide variant Likely benign rs61754100 GRCh38 Chromosome 12, 40918691: 40918691
17 CNTN1 NM_001843.3(CNTN1): c.1251G> T (p.Met417Ile) single nucleotide variant Likely benign rs145510600 GRCh37 Chromosome 12, 41333159: 41333159
18 CNTN1 NM_001843.3(CNTN1): c.1251G> T (p.Met417Ile) single nucleotide variant Likely benign rs145510600 GRCh38 Chromosome 12, 40939357: 40939357
19 CNTN1 NM_001843.3(CNTN1): c.1095G> T (p.Leu365Phe) single nucleotide variant Uncertain significance rs151126410 GRCh37 Chromosome 12, 41330692: 41330692
20 CNTN1 NM_001843.3(CNTN1): c.1095G> T (p.Leu365Phe) single nucleotide variant Uncertain significance rs151126410 GRCh38 Chromosome 12, 40936890: 40936890
21 CNTN1 NM_001843.3(CNTN1): c.1508A> C (p.Asp503Ala) single nucleotide variant Uncertain significance rs199754941 GRCh38 Chromosome 12, 40943995: 40943995
22 CNTN1 NM_001843.3(CNTN1): c.1508A> C (p.Asp503Ala) single nucleotide variant Uncertain significance rs199754941 GRCh37 Chromosome 12, 41337797: 41337797
23 CNTN1 NM_001843.3(CNTN1): c.1683+1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 41337973: 41337973
24 CNTN1 NM_001843.3(CNTN1): c.1683+1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 40944171: 40944171
25 CNTN1 NM_001843.3(CNTN1): c.1805-3C> T single nucleotide variant Uncertain significance rs771301005 GRCh37 Chromosome 12, 41374708: 41374708
26 CNTN1 NM_001843.3(CNTN1): c.1805-3C> T single nucleotide variant Uncertain significance rs771301005 GRCh38 Chromosome 12, 40980906: 40980906
27 CNTN1 NM_001843.3(CNTN1): c.2795C> A (p.Ser932Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 41421743: 41421743
28 CNTN1 NM_001843.3(CNTN1): c.2795C> A (p.Ser932Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 41027941: 41027941
29 CNTN1 NC_000012.12: g.(?_40908413)_(40971533_?)dup duplication Uncertain significance GRCh37 Chromosome 12, 41302215: 41365335
30 CNTN1 NC_000012.12: g.(?_40908413)_(40971533_?)dup duplication Uncertain significance GRCh38 Chromosome 12, 40908413: 40971533
31 CNTN1 NM_001843.3(CNTN1): c.1921A> T (p.Thr641Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 41374827: 41374827
32 CNTN1 NM_001843.3(CNTN1): c.1921A> T (p.Thr641Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 40981025: 40981025
33 CNTN1 NM_001843.3(CNTN1): c.2284C> T (p.Pro762Ser) single nucleotide variant Uncertain significance rs566695601 GRCh37 Chromosome 12, 41410583: 41410583
34 CNTN1 NM_001843.3(CNTN1): c.2284C> T (p.Pro762Ser) single nucleotide variant Uncertain significance rs566695601 GRCh38 Chromosome 12, 41016781: 41016781
35 CNTN1 NM_001843.3(CNTN1): c.54T> C (p.Cys18=) single nucleotide variant Benign rs149203149 GRCh37 Chromosome 12, 41302288: 41302288
36 CNTN1 NM_001843.3(CNTN1): c.54T> C (p.Cys18=) single nucleotide variant Benign rs149203149 GRCh38 Chromosome 12, 40908486: 40908486
37 CNTN1 NM_001843.3(CNTN1): c.1712G> A (p.Arg571Gln) single nucleotide variant Uncertain significance rs142561108 GRCh37 Chromosome 12, 41352944: 41352944
38 CNTN1 NM_001843.3(CNTN1): c.1712G> A (p.Arg571Gln) single nucleotide variant Uncertain significance rs142561108 GRCh38 Chromosome 12, 40959142: 40959142
39 CNTN1 NM_001843.3(CNTN1): c.644G> A (p.Ser215Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 41323745: 41323745
40 CNTN1 NM_001843.3(CNTN1): c.644G> A (p.Ser215Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 40929943: 40929943
41 CNTN1 NM_001843.3(CNTN1): c.1280C> G (p.Ala427Gly) single nucleotide variant Uncertain significance rs141706688 GRCh37 Chromosome 12, 41333188: 41333188
42 CNTN1 NM_001843.3(CNTN1): c.1280C> G (p.Ala427Gly) single nucleotide variant Uncertain significance rs141706688 GRCh38 Chromosome 12, 40939386: 40939386
43 CNTN1 NM_001843.3(CNTN1): c.1842C> T (p.Asp614=) single nucleotide variant Likely benign rs371908420 GRCh37 Chromosome 12, 41374748: 41374748
44 CNTN1 NM_001843.3(CNTN1): c.1842C> T (p.Asp614=) single nucleotide variant Likely benign rs371908420 GRCh38 Chromosome 12, 40980946: 40980946
45 CNTN1 NM_001843.3(CNTN1): c.2184+10G> A single nucleotide variant Likely benign GRCh37 Chromosome 12, 41408110: 41408110
46 CNTN1 NM_001843.3(CNTN1): c.2184+10G> A single nucleotide variant Likely benign GRCh38 Chromosome 12, 41014308: 41014308
47 CNTN1 NM_001843.3(CNTN1): c.2294G> A (p.Gly765Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 41410593: 41410593
48 CNTN1 NM_001843.3(CNTN1): c.2294G> A (p.Gly765Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 41016791: 41016791
49 CNTN1 NM_001843.3(CNTN1): c.2498T> C (p.Leu833Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 41414217: 41414217
50 CNTN1 NM_001843.3(CNTN1): c.2498T> C (p.Leu833Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 41020415: 41020415

Expression for Myopathy, Congenital, Compton-North

Search GEO for disease gene expression data for Myopathy, Congenital, Compton-North.

Pathways for Myopathy, Congenital, Compton-North

GO Terms for Myopathy, Congenital, Compton-North

Sources for Myopathy, Congenital, Compton-North

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74 UMLS via Orphanet
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