LCCS7
MCID: LTH032
MIFTS: 25

Lethal Congenital Contracture Syndrome 7 (LCCS7)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Lethal Congenital Contracture Syndrome 7

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 7:

Name: Lethal Congenital Contracture Syndrome 7 57 73 28 5
Lccs7 57 73
Contracture Syndrome, Lethal, Congenital, Type 7 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death in neonatal period
onset between 28-32 weeks of gestation


Classifications:



Summaries for Lethal Congenital Contracture Syndrome 7

UniProtKB/Swiss-Prot: 73 A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period.

MalaCards based summary: Lethal Congenital Contracture Syndrome 7, is also known as lccs7. An important gene associated with Lethal Congenital Contracture Syndrome 7 is CNTNAP1 (Contactin Associated Protein 1). Affiliated tissues include skeletal muscle, and related phenotypes are micrognathia and skeletal muscle atrophy

OMIM®: 57 Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). (616286) (Updated 08-Dec-2022)

Related Diseases for Lethal Congenital Contracture Syndrome 7

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 7

Human phenotypes related to Lethal Congenital Contracture Syndrome 7:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 30 Occasional (7.5%) HP:0000347
2 skeletal muscle atrophy 30 HP:0003202
3 fetal akinesia sequence 30 HP:0001989
4 polyhydramnios 30 HP:0001561
5 areflexia 30 HP:0001284
6 arthrogryposis multiplex congenita 30 HP:0002804
7 cerebellar atrophy 30 HP:0001272
8 knee flexion contracture 30 HP:0006380
9 cerebral atrophy 30 HP:0002059
10 generalized hypotonia 30 HP:0001290
11 hypoplasia of the corpus callosum 30 HP:0002079
12 oral-pharyngeal dysphagia 30 HP:0200136
13 small basal ganglia 30 HP:0012697
14 paralysis 30 HP:0003470
15 facial diplegia 30 HP:0001349

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
hypotonia
muscle atrophy
neurogenic muscle weakness

Head And Neck Face:
micrognathia
facial diplegia

Neurologic Peripheral Nervous System:
areflexia
motor paralysis, severe, present at birth
reduced motor nerve conduction velocities
marked widening of the node of ranvier seen on biopsy
absence of large myelinated axons
more
Abdomen Gastrointestinal:
difficulty swallowing

Respiratory:
respiratory distress secondary to motor nerve paralysis

Skeletal Hands:
flexion contracture of fingers

Neurologic Central Nervous System:
hypotonia
cerebellar atrophy
cerebral atrophy
small basal ganglia
thin corpus callosum
more
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Limbs:
flexion contracture of knees
multiple distal joint contractures

Prenatal Manifestations Movement:
fetal akinesia
fetal hypokinesia

Skeletal:
arthrogryposis multiplex congenita, distal

Skeletal Feet:
flexion contracture ankle

Clinical features from OMIM®:

616286 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 7

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 7

Genetic Tests for Lethal Congenital Contracture Syndrome 7

Genetic tests related to Lethal Congenital Contracture Syndrome 7:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 7 28 CNTNAP1

Anatomical Context for Lethal Congenital Contracture Syndrome 7

Organs/tissues related to Lethal Congenital Contracture Syndrome 7:

MalaCards : Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 7

Articles related to Lethal Congenital Contracture Syndrome 7:

# Title Authors PMID Year
1
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. 57 5
28254648 2017
2
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 57 5
24319099 2014
3
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 5
27668699 2017
4
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. 5
28374019 2017
5
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. 5
27818385 2016
6
[Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7]. 62
35076918 2022
7
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. 62
32328110 2020

Variations for Lethal Congenital Contracture Syndrome 7

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 7:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNTNAP1 NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter) DUP Pathogenic
189261 rs786204799 GRCh37: 17:40847552-40847553
GRCh38: 17:42695534-42695535
2 CNTNAP1 NM_003632.3(CNTNAP1):c.2993-1_2995del DEL Pathogenic
189262 rs786204800 GRCh37: 17:40847537-40847540
GRCh38: 17:42695519-42695522
3 CNTNAP1 NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg) SNV Pathogenic
242386 rs768554986 GRCh37: 17:40838987-40838987
GRCh38: 17:42686969-42686969
4 CNTNAP1 NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs) DUP Pathogenic
254173 rs1555642784 GRCh37: 17:40840997-40840998
GRCh38: 17:42688979-42688980
5 CNTNAP1 NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter) SNV Pathogenic
692016 rs144659252 GRCh37: 17:40844654-40844654
GRCh38: 17:42692636-42692636
6 CNTNAP1 GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1 CN LOSS Pathogenic
984430 GRCh37: 17:40842168-40846218
GRCh38:
7 CNTNAP1 NM_003632.3(CNTNAP1):c.2515C>T (p.Arg839Trp) SNV Pathogenic
1252013 GRCh37: 17:40843994-40843994
GRCh38: 17:42691976-42691976
8 CNTNAP1 NM_003632.3(CNTNAP1):c.3657_3660dup (p.Leu1221fs) DUP Pathogenic
1032140 rs2053168326 GRCh37: 17:40849658-40849659
GRCh38: 17:42697640-42697641
9 CNTNAP1 NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs) DEL Pathogenic
204313 rs751050956 GRCh37: 17:40845463-40845464
GRCh38: 17:42693445-42693446
10 CNTNAP1 NM_003632.3(CNTNAP1):c.1823del (p.Leu608fs) DEL Likely Pathogenic
1679372 GRCh37: 17:40842193-40842193
GRCh38: 17:42690175-42690175
11 CNTNAP1 NM_003632.3(CNTNAP1):c.1046G>T (p.Gly349Val) SNV Likely Pathogenic
1679401 GRCh37: 17:40839739-40839739
GRCh38: 17:42687721-42687721
12 CNTNAP1 NM_003632.3(CNTNAP1):c.2444C>A (p.Thr815Asn) SNV Likely Pathogenic
266117 rs746361190 GRCh37: 17:40843923-40843923
GRCh38: 17:42691905-42691905
13 CNTNAP1 NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) SNV Conflicting Interpretations Of Pathogenicity
522842 rs779027563 GRCh37: 17:40839856-40839856
GRCh38: 17:42687838-42687838
14 CNTNAP1 NM_003632.3(CNTNAP1):c.2930G>A (p.Arg977His) SNV Uncertain Significance
1031348 rs758431189 GRCh37: 17:40845492-40845492
GRCh38: 17:42693474-42693474
15 CNTNAP1 NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=) SNV Benign
803394 rs2271029 GRCh37: 17:40835922-40835922
GRCh38: 17:42683904-42683904
16 CNTNAP1 NM_003632.3(CNTNAP1):c.364-34A>G SNV Benign
1217319 GRCh37: 17:40836975-40836975
GRCh38: 17:42684957-42684957
17 CNTNAP1 NM_003632.3(CNTNAP1):c.1736-22G>A SNV Benign
1217320 GRCh37: 17:40842084-40842084
GRCh38: 17:42690066-42690066

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 7:

73
# Symbol AA change Variation ID SNP ID
1 CNTNAP1 p.Cys323Arg VAR_078818 rs768554986

Expression for Lethal Congenital Contracture Syndrome 7

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 7.

Pathways for Lethal Congenital Contracture Syndrome 7

GO Terms for Lethal Congenital Contracture Syndrome 7

Sources for Lethal Congenital Contracture Syndrome 7

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....