MCID: LTH032
MIFTS: 20

Lethal Congenital Contracture Syndrome 7

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Fetal diseases, Neuronal diseases, Bone 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 75 29 6
Lccs7 57 75
Contracture Syndrome, Lethal, Congenital, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
lethal congenital contracture syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lethal Congenital Contracture Syndrome 7

UniProtKB/Swiss-Prot : 75 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 areflexia

OMIM : 57 Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, 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)

Related Diseases for Lethal Congenital Contracture Syndrome 7

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 7

Symptoms via clinical synopsis from OMIM:

57
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Face:
facial diplegia
micrognathia (rare)

Abdomen Gastrointestinal:
difficulty swallowing

Respiratory:
respiratory distress secondary to motor nerve paralysis

Skeletal Hands:
flexion contracture of fingers

Neurologic Peripheral Nervous System:
areflexia
hypotonia
motor paralysis, severe, present at birth
reduced motor nerve conduction velocities
marked widening of the node of ranvier seen on biopsy
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

Human phenotypes related to Lethal Congenital Contracture Syndrome 7:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 micrognathia 32 occasional (7.5%) HP:0000347
2 areflexia 32 HP:0001284
3 generalized hypotonia 32 HP:0001290
4 facial diplegia 32 HP:0001349
5 polyhydramnios 32 HP:0001561
6 fetal akinesia sequence 32 HP:0001989
7 arthrogryposis multiplex congenita 32 HP:0002804
8 knee flexion contracture 32 HP:0006380
9 oral-pharyngeal dysphagia 32 HP:0200136

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:

41
Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 7

Variations for Lethal Congenital Contracture Syndrome 7

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

75
# Symbol AA change Variation ID SNP ID
1 CNTNAP1 p.Cys323Arg VAR_078818 rs768554986

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 7:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNTNAP1 NM_003632.2(CNTNAP1): c.3009dupT (p.Glu1004Terfs) duplication Pathogenic rs786204799 GRCh38 Chromosome 17, 42695537: 42695537
2 CNTNAP1 NM_003632.2(CNTNAP1): c.3009dupT (p.Glu1004Terfs) duplication Pathogenic rs786204799 GRCh37 Chromosome 17, 40847555: 40847555
3 CNTNAP1 NM_003632.2(CNTNAP1): c.2993-2_2994delAGAT deletion Pathogenic rs786204800 GRCh38 Chromosome 17, 42695519: 42695522
4 CNTNAP1 NM_003632.2(CNTNAP1): c.2993-2_2994delAGAT deletion Pathogenic rs786204800 GRCh37 Chromosome 17, 40847537: 40847540
5 CNTNAP1 NM_003632.2(CNTNAP1): c.2901_2902delCT (p.Cys968Phefs) deletion Pathogenic rs751050956 GRCh37 Chromosome 17, 40845463: 40845464
6 CNTNAP1 NM_003632.2(CNTNAP1): c.2901_2902delCT (p.Cys968Phefs) deletion Pathogenic rs751050956 GRCh38 Chromosome 17, 42693445: 42693446
7 CNTNAP1 NM_003632.2(CNTNAP1): c.1869G> A (p.Trp623Ter) single nucleotide variant no interpretation for the single variant rs878853221 GRCh38 Chromosome 17, 42690752: 42690752
8 CNTNAP1 NM_003632.2(CNTNAP1): c.1869G> A (p.Trp623Ter) single nucleotide variant no interpretation for the single variant rs878853221 GRCh37 Chromosome 17, 40842770: 40842770
9 CNTNAP1 NM_003632.2(CNTNAP1): c.967T> C (p.Cys323Arg) single nucleotide variant no interpretation for the single variant rs768554986 GRCh38 Chromosome 17, 42686969: 42686969
10 CNTNAP1 NM_003632.2(CNTNAP1): c.967T> C (p.Cys323Arg) single nucleotide variant no interpretation for the single variant rs768554986 GRCh37 Chromosome 17, 40838987: 40838987
11 CNTNAP1 NM_003632.2(CNTNAP1): c.1561dupC (p.Leu521Profs) duplication Pathogenic GRCh37 Chromosome 17, 40840998: 40840998
12 CNTNAP1 NM_003632.2(CNTNAP1): c.1561dupC (p.Leu521Profs) duplication Pathogenic GRCh38 Chromosome 17, 42688980: 42688980
13 CNTNAP1 NM_003632.2(CNTNAP1): c.2444C> A (p.Thr815Asn) single nucleotide variant Likely pathogenic rs746361190 GRCh38 Chromosome 17, 42691905: 42691905
14 CNTNAP1 NM_003632.2(CNTNAP1): c.2444C> A (p.Thr815Asn) single nucleotide variant Likely pathogenic rs746361190 GRCh37 Chromosome 17, 40843923: 40843923
15 CNTNAP1 NM_003632.2(CNTNAP1): c.1163G> C (p.Arg388Pro) single nucleotide variant Likely pathogenic rs779027563 GRCh37 Chromosome 17, 40839856: 40839856
16 CNTNAP1 NM_003632.2(CNTNAP1): c.1163G> C (p.Arg388Pro) single nucleotide variant Likely pathogenic rs779027563 GRCh38 Chromosome 17, 42687838: 42687838

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

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