LCCS7
MCID: LTH032
MIFTS: 24

Lethal Congenital Contracture Syndrome 7 (LCCS7)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lethal Congenital Contracture Syndrome 7

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 7:

Name: Lethal Congenital Contracture Syndrome 7 57 72 29 6
Lccs7 57 72
Contracture Syndrome, Lethal, Congenital, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in neonatal period
onset between 28-32 weeks of gestation


HPO:

31
lethal congenital contracture syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lethal Congenital Contracture Syndrome 7

UniProtKB/Swiss-Prot : 72 Lethal congenital contracture syndrome 7: 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 05-Apr-2021)

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 micrognathia 31 occasional (7.5%) HP:0000347
2 skeletal muscle atrophy 31 HP:0003202
3 fetal akinesia sequence 31 HP:0001989
4 polyhydramnios 31 HP:0001561
5 areflexia 31 HP:0001284
6 arthrogryposis multiplex congenita 31 HP:0002804
7 hypoplasia of the corpus callosum 31 HP:0002079
8 cerebellar atrophy 31 HP:0001272
9 knee flexion contracture 31 HP:0006380
10 cerebral atrophy 31 HP:0002059
11 generalized hypotonia 31 HP:0001290
12 oral-pharyngeal dysphagia 31 HP:0200136
13 small basal ganglia 31 HP:0012697
14 paralysis 31 HP:0003470
15 facial diplegia 31 HP:0001349

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
Muscle Soft Tissue:
hypotonia
muscle atrophy
neurogenic muscle weakness

Abdomen Gastrointestinal:
difficulty swallowing

Respiratory:
respiratory distress secondary to motor nerve paralysis

Skeletal Hands:
flexion contracture of fingers

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
small basal ganglia
hypotonia
thin corpus callosum
more
Skeletal Limbs:
flexion contracture of knees
multiple distal joint contractures

Prenatal Manifestations Movement:
fetal hypokinesia
fetal akinesia

Skeletal:
arthrogryposis multiplex congenita, distal

Skeletal Feet:
flexion contracture ankle

Clinical features from OMIM®:

616286 (Updated 05-Apr-2021)

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 29 CNTNAP1

Anatomical Context for Lethal Congenital Contracture Syndrome 7

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 7:

40
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. 6 57
28254648 2017
2
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 57 6
24319099 2014
3
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 6
27668699 2017
4
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. 6
28374019 2017
5
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. 6
27818385 2016
6
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. 61
32328110 2020

Variations for Lethal Congenital Contracture Syndrome 7

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 7:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNTNAP1 NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter) Duplication Pathogenic 189261 rs786204799 GRCh37: 17:40847552-40847553
GRCh38: 17:42695534-42695535
2 CNTNAP1 NM_003632.3(CNTNAP1):c.2993-1_2995del Deletion 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.2668C>T (p.Arg890Ter) SNV Pathogenic 692016 rs144659252 GRCh37: 17:40844654-40844654
GRCh38: 17:42692636-42692636
5 CNTNAP1 GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1 copy number loss Pathogenic 984430 GRCh37: 17:40842168-40846218
GRCh38:
6 CNTNAP1 NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs) Deletion Pathogenic 204313 rs751050956 GRCh37: 17:40845463-40845464
GRCh38: 17:42693445-42693446
7 CNTNAP1 NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs) Duplication Pathogenic 254173 rs1555642784 GRCh37: 17:40840997-40840998
GRCh38: 17:42688979-42688980
8 CNTNAP1 NM_003632.3(CNTNAP1):c.3657_3660dup (p.Leu1221fs) Duplication Pathogenic 1032140 GRCh37: 17:40849658-40849659
GRCh38: 17:42697640-42697641
9 CNTNAP1 NM_003632.3(CNTNAP1):c.2444C>A (p.Thr815Asn) SNV Likely pathogenic 266117 rs746361190 GRCh37: 17:40843923-40843923
GRCh38: 17:42691905-42691905
10 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
11 CNTNAP1 NM_003632.3(CNTNAP1):c.2930G>A (p.Arg977His) SNV Uncertain significance 1031348 GRCh37: 17:40845492-40845492
GRCh38: 17:42693474-42693474

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

72
# 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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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