MYPCN
MCID: MYP038
MIFTS: 20

Myopathy, Congenital, Compton-North (MYPCN)

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

Aliases & Classifications for Myopathy, Congenital, Compton-North

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

Name: Myopathy, Congenital, Compton-North 58 76 30 13 6 41 74
Mypcn 58 76
Congenital Lethal Myopathy, Compton-North Type 60
Compton-North Congenital Myopathy 12

Characteristics:

Orphanet epidemiological data:

60
congenital lethal myopathy, compton-north type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

33
myopathy, congenital, compton-north:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Congenital, Compton-North

UniProtKB/Swiss-Prot : 76 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

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

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 high palate 33 HP:0000218
3 neonatal hypotonia 33 HP:0001319
4 respiratory insufficiency due to muscle weakness 33 HP:0002747
5 dolichocephaly 33 HP:0000268
6 high, narrow palate 33 HP:0002705
7 fetal akinesia sequence 33 HP:0001989
8 arachnodactyly 33 HP:0001166
9 polyhydramnios 33 HP:0001561
10 areflexia 33 HP:0001284
11 decreased fetal movement 33 HP:0001558
12 overlapping fingers 33 HP:0010557
13 poor suck 33 HP:0002033
14 camptodactyly 33 HP:0012385
15 small for gestational age 33 HP:0001518
16 akinesia 33 HP:0002304
17 oval face 33 HP:0000300
18 joint contracture of the hand 33 HP:0009473
19 scaphocephaly 33 HP:0030799

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CNTN1

Anatomical Context for Myopathy, Congenital, Compton-North

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

42
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 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNTN1 NM_001843.3(CNTN1): c.207C> T (p.Ala69=) single nucleotide variant Benign/Likely benign rs7297132 GRCh38 Chromosome 12, 40918751: 40918751
2 CNTN1 NM_001843.3(CNTN1): c.207C> T (p.Ala69=) single nucleotide variant Benign/Likely benign rs7297132 GRCh37 Chromosome 12, 41312553: 41312553
3 CNTN1 NM_001843.3(CNTN1): c.871dupT (p.Ser291Phefs) duplication Pathogenic rs587776718 GRCh37 Chromosome 12, 41327566: 41327566
4 CNTN1 NM_001843.3(CNTN1): c.871dupT (p.Ser291Phefs) duplication Pathogenic rs587776718 GRCh38 Chromosome 12, 40933764: 40933764
5 CNTN1 NM_001843.3(CNTN1): c.1893T> C (p.His631=) single nucleotide variant Benign rs2229929 GRCh37 Chromosome 12, 41374799: 41374799
6 CNTN1 NM_001843.3(CNTN1): c.1893T> C (p.His631=) single nucleotide variant Benign rs2229929 GRCh38 Chromosome 12, 40980997: 40980997
7 CNTN1 NM_001843.3(CNTN1): c.1956A> G (p.Ala652=) single nucleotide variant Benign rs2229930 GRCh37 Chromosome 12, 41374862: 41374862
8 CNTN1 NM_001843.3(CNTN1): c.1956A> G (p.Ala652=) single nucleotide variant Benign rs2229930 GRCh38 Chromosome 12, 40981060: 40981060
9 CNTN1 NM_001843.3(CNTN1): c.2324G> A (p.Ser775Asn) single nucleotide variant Benign rs34326474 GRCh37 Chromosome 12, 41410623: 41410623
10 CNTN1 NM_001843.3(CNTN1): c.2324G> A (p.Ser775Asn) single nucleotide variant Benign rs34326474 GRCh38 Chromosome 12, 41016821: 41016821
11 CNTN1 NM_001843.3(CNTN1): c.2493T> C (p.His831=) single nucleotide variant Benign/Likely benign rs61754102 GRCh37 Chromosome 12, 41414212: 41414212
12 CNTN1 NM_001843.3(CNTN1): c.2493T> C (p.His831=) single nucleotide variant Benign/Likely benign rs61754102 GRCh38 Chromosome 12, 41020410: 41020410
13 CNTN1 NM_001843.3(CNTN1): c.2670A> T (p.Gly890=) single nucleotide variant Benign rs34346038 GRCh37 Chromosome 12, 41419098: 41419098
14 CNTN1 NM_001843.3(CNTN1): c.2670A> T (p.Gly890=) single nucleotide variant Benign rs34346038 GRCh38 Chromosome 12, 41025296: 41025296
15 CNTN1 NM_001843.3(CNTN1): c.401-9C> T single nucleotide variant Benign rs57340925 GRCh37 Chromosome 12, 41318350: 41318350
16 CNTN1 NM_001843.3(CNTN1): c.401-9C> T single nucleotide variant Benign rs57340925 GRCh38 Chromosome 12, 40924548: 40924548
17 CNTN1 NM_001843.3(CNTN1): c.90T> C (p.His30=) single nucleotide variant Benign/Likely benign rs61748365 GRCh37 Chromosome 12, 41303903: 41303903
18 CNTN1 NM_001843.3(CNTN1): c.90T> C (p.His30=) single nucleotide variant Benign/Likely benign rs61748365 GRCh38 Chromosome 12, 40910101: 40910101
19 CNTN1 NM_001843.3(CNTN1): c.804-8A> G single nucleotide variant Likely benign rs56172264 GRCh37 Chromosome 12, 41327491: 41327491
20 CNTN1 NM_001843.3(CNTN1): c.804-8A> G single nucleotide variant Likely benign rs56172264 GRCh38 Chromosome 12, 40933689: 40933689
21 CNTN1 NM_001843.3(CNTN1): c.1401T> C (p.Gly467=) single nucleotide variant Benign/Likely benign rs61759480 GRCh37 Chromosome 12, 41337420: 41337420
22 CNTN1 NM_001843.3(CNTN1): c.1401T> C (p.Gly467=) single nucleotide variant Benign/Likely benign rs61759480 GRCh38 Chromosome 12, 40943618: 40943618
23 CNTN1 NM_001843.3(CNTN1): c.2598C> G (p.Ala866=) single nucleotide variant Benign/Likely benign rs140462332 GRCh37 Chromosome 12, 41419026: 41419026
24 CNTN1 NM_001843.3(CNTN1): c.2598C> G (p.Ala866=) single nucleotide variant Benign/Likely benign rs140462332 GRCh38 Chromosome 12, 41025224: 41025224
25 CNTN1 NM_001843.3(CNTN1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs148239965 GRCh37 Chromosome 12, 41421733: 41421733
26 CNTN1 NM_001843.3(CNTN1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs148239965 GRCh38 Chromosome 12, 41027931: 41027931
27 CNTN1 NM_001843.3(CNTN1): c.147T> C (p.Asn49=) single nucleotide variant Likely benign rs61754100 GRCh37 Chromosome 12, 41312493: 41312493
28 CNTN1 NM_001843.3(CNTN1): c.147T> C (p.Asn49=) single nucleotide variant Likely benign rs61754100 GRCh38 Chromosome 12, 40918691: 40918691
29 CNTN1 NM_001843.3(CNTN1): c.1251G> T (p.Met417Ile) single nucleotide variant Likely benign rs145510600 GRCh37 Chromosome 12, 41333159: 41333159
30 CNTN1 NM_001843.3(CNTN1): c.1251G> T (p.Met417Ile) single nucleotide variant Likely benign rs145510600 GRCh38 Chromosome 12, 40939357: 40939357
31 CNTN1 NM_001843.3(CNTN1): c.1095G> T (p.Leu365Phe) single nucleotide variant Uncertain significance rs151126410 GRCh37 Chromosome 12, 41330692: 41330692
32 CNTN1 NM_001843.3(CNTN1): c.1095G> T (p.Leu365Phe) single nucleotide variant Uncertain significance rs151126410 GRCh38 Chromosome 12, 40936890: 40936890
33 CNTN1 NM_001843.3(CNTN1): c.3031G> A (p.Gly1011Ser) single nucleotide variant Uncertain significance rs200796487 GRCh38 Chromosome 12, 41070009: 41070009
34 CNTN1 NM_001843.3(CNTN1): c.3031G> A (p.Gly1011Ser) single nucleotide variant Uncertain significance rs200796487 GRCh37 Chromosome 12, 41463811: 41463811
35 CNTN1 NM_001843.3(CNTN1): c.1508A> C (p.Asp503Ala) single nucleotide variant Uncertain significance rs199754941 GRCh37 Chromosome 12, 41337797: 41337797
36 CNTN1 NM_001843.3(CNTN1): c.1508A> C (p.Asp503Ala) single nucleotide variant Uncertain significance rs199754941 GRCh38 Chromosome 12, 40943995: 40943995
37 CNTN1 NM_001843.3(CNTN1): c.1683+1G> A single nucleotide variant Likely pathogenic rs1555185778 GRCh37 Chromosome 12, 41337973: 41337973
38 CNTN1 NM_001843.3(CNTN1): c.1683+1G> A single nucleotide variant Likely pathogenic rs1555185778 GRCh38 Chromosome 12, 40944171: 40944171
39 CNTN1 NM_001843.3(CNTN1): c.1805-3C> T single nucleotide variant Uncertain significance rs771301005 GRCh37 Chromosome 12, 41374708: 41374708
40 CNTN1 NM_001843.3(CNTN1): c.1805-3C> T single nucleotide variant Uncertain significance rs771301005 GRCh38 Chromosome 12, 40980906: 40980906
41 CNTN1 NM_001843.3(CNTN1): c.2795C> A (p.Ser932Ter) single nucleotide variant Uncertain significance rs1555201269 GRCh37 Chromosome 12, 41421743: 41421743
42 CNTN1 NM_001843.3(CNTN1): c.2795C> A (p.Ser932Ter) single nucleotide variant Uncertain significance rs1555201269 GRCh38 Chromosome 12, 41027941: 41027941
43 CNTN1 NC_000012.12: g.(?_40908413)_(40971533_?)dup duplication Uncertain significance GRCh37 Chromosome 12, 41302215: 41365335
44 CNTN1 NC_000012.12: g.(?_40908413)_(40971533_?)dup duplication Uncertain significance GRCh38 Chromosome 12, 40908413: 40971533
45 CNTN1 NM_001843.3(CNTN1): c.1921A> T (p.Thr641Ser) single nucleotide variant Uncertain significance rs1555193694 GRCh37 Chromosome 12, 41374827: 41374827
46 CNTN1 NM_001843.3(CNTN1): c.1921A> T (p.Thr641Ser) single nucleotide variant Uncertain significance rs1555193694 GRCh38 Chromosome 12, 40981025: 40981025
47 CNTN1 NM_001843.3(CNTN1): c.2284C> T (p.Pro762Ser) single nucleotide variant Uncertain significance rs566695601 GRCh37 Chromosome 12, 41410583: 41410583
48 CNTN1 NM_001843.3(CNTN1): c.2284C> T (p.Pro762Ser) single nucleotide variant Uncertain significance rs566695601 GRCh38 Chromosome 12, 41016781: 41016781
49 CNTN1 NM_001843.3(CNTN1): c.54T> C (p.Cys18=) single nucleotide variant Benign rs149203149 GRCh37 Chromosome 12, 41302288: 41302288
50 CNTN1 NM_001843.3(CNTN1): c.54T> C (p.Cys18=) single nucleotide variant Benign rs149203149 GRCh38 Chromosome 12, 40908486: 40908486

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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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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