MYPCN
MCID: MYP038
MIFTS: 33

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 57 73 29 13 6 39 71
Compton-North Congenital Myopathy 12 15
Mypcn 57 73
Congenital Lethal Myopathy, Compton-North Type 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

31
myopathy, congenital, compton-north:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080101
OMIM® 57 612540
MeSH 44 D020914
ICD10 via Orphanet 33 G71.2
Orphanet 58 ORPHA210163
MedGen 41 C2675527
UMLS 71 C2675527

Summaries for Myopathy, Congenital, Compton-North

Disease Ontology : 12 A congenital myopathy that has material basis in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels.

MalaCards based summary : Myopathy, Congenital, Compton-North, also known as compton-north congenital myopathy, is related to coffin-siris syndrome 6 and multiple pterygium syndrome, escobar variant. An important gene associated with Myopathy, Congenital, Compton-North is CNTN1 (Contactin 1), and among its related pathways/superpathways is TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include skeletal muscle, and related phenotypes are high palate and hypertelorism

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 612540

Related Diseases for Myopathy, Congenital, Compton-North

Diseases related to Myopathy, Congenital, Compton-North via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 6 9.9 CNTN5 CNTN1
2 multiple pterygium syndrome, escobar variant 9.8 TNNI2 CNTN1
3 seckel syndrome 5 9.4 TRAPPC9 RNF166 CEP152
4 autosomal recessive non-syndromic intellectual disability 9.3 TRAPPC9 RNF166 CEP152
5 generalized epilepsy with febrile seizures plus, type 9 9.3 TRAPPC9 RNF166 CNTN1 CEP152

Graphical network of the top 20 diseases related to Myopathy, Congenital, Compton-North:



Diseases related to Myopathy, Congenital, Compton-North

Symptoms & Phenotypes for Myopathy, Congenital, Compton-North

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 hypertelorism 31 HP:0000316
3 neonatal hypotonia 31 HP:0001319
4 high, narrow palate 31 HP:0002705
5 respiratory insufficiency due to muscle weakness 31 HP:0002747
6 fetal akinesia sequence 31 HP:0001989
7 arachnodactyly 31 HP:0001166
8 dolichocephaly 31 HP:0000268
9 polyhydramnios 31 HP:0001561
10 areflexia 31 HP:0001284
11 decreased fetal movement 31 HP:0001558
12 overlapping fingers 31 HP:0010557
13 poor suck 31 HP:0002033
14 small for gestational age 31 HP:0001518
15 camptodactyly 31 HP:0012385
16 akinesia 31 HP:0002304
17 joint contracture of the hand 31 HP:0009473
18 oval face 31 HP:0000300
19 scaphocephaly 31 HP:0030799

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
hypertelorism

Skeletal Hands:
arachnodactyly
overlapping fingers
camptodactyly

Abdomen Gastrointestinal:
poor suck
poor feeding

Head And Neck Head:
scaphocephaly

Skeletal:
joint contractures

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

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

Laboratory Abnormalities:
normal serum creatine kinase

Prenatal Manifestations Movement:
decreased fetal movements
fetal akinesia

Clinical features from OMIM®:

612540 (Updated 05-Mar-2021)

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:

40
Skeletal Muscle

Publications for Myopathy, Congenital, Compton-North

Articles related to Myopathy, Congenital, Compton-North:

# Title Authors PMID Year
1
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. 57 6
19026398 2008
2
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. 57
12899872 2003

Variations for Myopathy, Congenital, Compton-North

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

6 (show top 50) (show all 132)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNTN1 NM_001843.4(CNTN1):c.1074del (p.Ile359fs) Deletion Pathogenic 655024 rs1592283787 12:41330669-41330669 12:40936867-40936867
2 CNTN1 NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter) SNV Pathogenic 469421 rs1555201269 12:41421743-41421743 12:41027941-41027941
3 CNTN1 NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer) Deletion Pathogenic 651866 rs1592415275 12:41414220-41414220 12:41020418-41020418
4 CNTN1 NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter) SNV Pathogenic 537192 rs1555201480 12:41422964-41422964 12:41029162-41029162
5 CNTN1 NM_001843.4(CNTN1):c.871dup (p.Ser291fs) Duplication Pathogenic 9539 rs587776718 12:41327565-41327566 12:40933763-40933764
6 CNTN1 NM_001843.4(CNTN1):c.215dup (p.Val74fs) Duplication Pathogenic 568623 rs1565946117 12:41312558-41312559 12:40918756-40918757
7 CNTN1 NM_001843.4(CNTN1):c.1683+1G>A SNV Likely pathogenic 469412 rs1555185778 12:41337973-41337973 12:40944171-40944171
8 CNTN1 NM_001843.4(CNTN1):c.495A>G (p.Pro165=) SNV Uncertain significance 652534 rs751830078 12:41318453-41318453 12:40924651-40924651
9 CNTN1 NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr) SNV Uncertain significance 640567 rs1167071121 12:41337829-41337829 12:40944027-40944027
10 CNTN1 NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met) SNV Uncertain significance 641061 rs1592357953 12:41374742-41374742 12:40980940-40980940
11 CNTN1 NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu) SNV Uncertain significance 643635 rs1033656256 12:41312564-41312564 12:40918762-40918762
12 CNTN1 NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn) SNV Uncertain significance 645568 rs751205601 12:41316095-41316095 12:40922293-40922293
13 CNTN1 NM_001843.4(CNTN1):c.733G>A (p.Val245Ile) SNV Uncertain significance 650397 rs1478025106 12:41327292-41327292 12:40933490-40933490
14 CNTN1 NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser) SNV Uncertain significance 651730 rs973419081 12:41337815-41337815 12:40944013-40944013
15 CNTN1 NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys) SNV Uncertain significance 537196 rs148624625 12:41327666-41327666 12:40933864-40933864
16 CNTN1 NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln) SNV Uncertain significance 566541 rs1487254662 12:41327602-41327602 12:40933800-40933800
17 CNTN1 NM_001843.4(CNTN1):c.919A>G (p.Ile307Val) SNV Uncertain significance 566552 rs756830197 12:41327614-41327614 12:40933812-40933812
18 CNTN1 NM_001843.4(CNTN1):c.1110G>A (p.Ala370=) SNV Uncertain significance 566757 rs770501938 12:41330707-41330707 12:40936905-40936905
19 CNTN1 NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu) SNV Uncertain significance 567747 rs1158555477 12:41327507-41327507 12:40933705-40933705
20 CNTN1 NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn) SNV Uncertain significance 576180 rs199886411 12:41374801-41374801 12:40980999-40980999
21 CNTN1 NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys) SNV Uncertain significance 579040 rs1565989995 12:41331451-41331451 12:40937649-40937649
22 CNTN1 NM_001843.4(CNTN1):c.2824-6T>C SNV Uncertain significance 258198 rs201098244 12:41422859-41422859 12:41029057-41029057
23 CNTN1 NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) SNV Uncertain significance 434795 rs374200408 12:41327516-41327516 12:40933714-40933714
24 CNTN1 NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln) SNV Uncertain significance 469413 rs142561108 12:41352944-41352944 12:40959142-40959142
25 CNTN1 NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) SNV Uncertain significance 537194 rs200591895 12:41330603-41330603 12:40936801-40936801
26 CNTN1 NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) SNV Uncertain significance 537195 rs200139062 12:41330621-41330621 12:40936819-40936819
27 CNTN1 NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile) SNV Uncertain significance 573539 rs573923461 12:41337485-41337485 12:40943683-40943683
28 CNTN1 NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser) SNV Uncertain significance 451957 rs200796487 12:41463811-41463811 12:41070009-41070009
29 CNTN1 NM_001843.4(CNTN1):c.1228+4A>G SNV Uncertain significance 650489 rs1183511907 12:41331493-41331493 12:40937691-40937691
30 CNTN1 NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg) SNV Uncertain significance 421523 rs138121813 12:41419072-41419072 12:41025270-41025270
31 CNTN1 NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys) SNV Uncertain significance 939764 12:41386996-41386996 12:40993194-40993194
32 CNTN1 NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln) SNV Uncertain significance 946467 12:41330685-41330685 12:40936883-40936883
33 CNTN1 NM_001843.4(CNTN1):c.1249A>G (p.Met417Val) SNV Uncertain significance 947397 12:41333157-41333157 12:40939355-40939355
34 CNTN1 NM_001843.4(CNTN1):c.1294G>A (p.Val432Met) SNV Uncertain significance 947806 12:41333202-41333202 12:40939400-40939400
35 CNTN1 NM_001843.4(CNTN1):c.2081T>C (p.Ile694Thr) SNV Uncertain significance 948925 12:41387039-41387039 12:40993237-40993237
36 CNTN1 NM_001843.4(CNTN1):c.1414A>C (p.Asn472His) SNV Uncertain significance 949265 12:41337433-41337433 12:40943631-40943631
37 CNTN1 NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr) SNV Uncertain significance 949788 12:41463763-41463763 12:41069961-41069961
38 CNTN1 NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser) SNV Uncertain significance 952031 12:41330648-41330648 12:40936846-40936846
39 CNTN1 NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp) SNV Uncertain significance 956222 12:41330696-41330696 12:40936894-40936894
40 CNTN1 NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val) SNV Uncertain significance 958129 12:41408099-41408099 12:41014297-41014297
41 CNTN1 NM_001843.4(CNTN1):c.2326C>T (p.Pro776Ser) SNV Uncertain significance 958274 12:41410625-41410625 12:41016823-41016823
42 CNTN1 NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser) SNV Uncertain significance 958920 12:41352926-41352926 12:40959124-40959124
43 CNTN1 NM_001843.4(CNTN1):c.1731T>G (p.His577Gln) SNV Uncertain significance 960943 12:41352963-41352963 12:40959161-40959161
44 CNTN1 NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr) SNV Uncertain significance 961425 12:41323796-41323796 12:40929994-40929994
45 CNTN1 NM_001843.4(CNTN1):c.862A>G (p.Ile288Val) SNV Uncertain significance 963672 12:41327557-41327557 12:40933755-40933755
46 CNTN1 NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser) SNV Uncertain significance 964588 12:41374719-41374719 12:40980917-40980917
47 CNTN1 NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp) SNV Uncertain significance 966127 12:41333277-41333277 12:40939475-40939475
48 CNTN1 NM_001843.4(CNTN1):c.512G>A (p.Arg171His) SNV Uncertain significance 968372 12:41323613-41323613 12:40929811-40929811
49 CNTN1 NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe) SNV Uncertain significance 970349 12:41374770-41374770 12:40980968-40980968
50 CNTN1 NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp) SNV Uncertain significance 971773 12:41337920-41337920 12:40944118-40944118

Expression for Myopathy, Congenital, Compton-North

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

Pathways for Myopathy, Congenital, Compton-North

Pathways related to Myopathy, Congenital, Compton-North according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.54 RELT EDA2R

GO Terms for Myopathy, Congenital, Compton-North

Cellular components related to Myopathy, Congenital, Compton-North according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anchored component of presynaptic membrane GO:0099026 8.62 CNTN5 CNTN1

Sources for Myopathy, Congenital, Compton-North

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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