LCCS5
MCID: LTH027
MIFTS: 26

Lethal Congenital Contracture Syndrome 5 (LCCS5)

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 5

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 5:

Name: Lethal Congenital Contracture Syndrome 5 58 76 30 6 74
Lccs5 58 60 76
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome 60
Myopathy, Centronuclear, Lethal, Autosomal Recessive 58
Autosomal Recessive Lethal Centronuclear Myopathy 76
Contracture Syndrome, Lethal, Congenital, Type 5 41
Lethal Congenital Contracture Syndrome Type 5 60

Characteristics:

Orphanet epidemiological data:

60
fetal akinesia-cerebral and retinal hemorrhage syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
death in infancy
onset in utero
one family has been reported (last curated august 2013)

Inheritance:
autosomal recessive


HPO:

33
lethal congenital contracture syndrome 5:
Clinical modifier death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot : 76 Lethal congenital contracture syndrome 5: 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.

MalaCards based summary : Lethal Congenital Contracture Syndrome 5, is also known as lccs5. An important gene associated with Lethal Congenital Contracture Syndrome 5 is DNM2 (Dynamin 2). The drugs Gliclazide and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency and flexion contracture

Description from OMIM: 615368

Related Diseases for Lethal Congenital Contracture Syndrome 5

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 5

Human phenotypes related to Lethal Congenital Contracture Syndrome 5:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 flexion contracture 33 HP:0001371
3 decreased nerve conduction velocity 33 HP:0000762
4 thin ribs 33 HP:0000883
5 polyhydramnios 33 HP:0001561
6 areflexia 33 HP:0001284
7 decreased fetal movement 33 HP:0001558
8 generalized hypotonia 33 HP:0001290
9 centrally nucleated skeletal muscle fibers 33 HP:0003687
10 retinal hemorrhage 33 HP:0000573
11 small for gestational age 33 HP:0001518
12 congenital contracture 33 HP:0002803
13 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
retinal hemorrhage

Skeletal:
joint contractures
thin bones

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
intracranial bleeding
lack of spontaneous movement

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Neurologic Peripheral Nervous System:
areflexia
decreased nerve conduction velocities

Muscle Soft Tissue:
hypotonia
centralized nuclei
muscle biopsy shows atrophic fibers
small rounded fibers
emg may show myopathic features

Growth Other:
low birth weight

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM:

615368

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 5

Drugs for Lethal Congenital Contracture Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gliclazide Approved 21187-98-4 3475
2
Perindopril Approved 107133-36-8, 82834-16-0 107807
3
Indapamide Approved 26807-65-8 3702
4 Antihypertensive Agents
5 Hypoglycemic Agents
6 Indapamide, perindopril drug combination

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Action in Diabetes and Vascular Disease Preterax and Diamicron MR Controlled Evaluation Post Trial Observational Study Completed NCT00949286

Search NIH Clinical Center for Lethal Congenital Contracture Syndrome 5

Genetic Tests for Lethal Congenital Contracture Syndrome 5

Genetic tests related to Lethal Congenital Contracture Syndrome 5:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 5 30 DNM2

Anatomical Context for Lethal Congenital Contracture Syndrome 5

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 5:

42
Skeletal Muscle, Bone

Publications for Lethal Congenital Contracture Syndrome 5

Articles related to Lethal Congenital Contracture Syndrome 5:

# Title Authors Year
1
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. ( 23092955 )
2013

Variations for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 5:

76
# Symbol AA change Variation ID SNP ID
1 DNM2 p.Phe379Val VAR_070163 rs397514735

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 NM_001005360.2(DNM2): c.1135T> G (p.Phe379Val) single nucleotide variant Pathogenic rs397514735 GRCh37 Chromosome 19, 10906054: 10906054
2 DNM2 NM_001005360.2(DNM2): c.1135T> G (p.Phe379Val) single nucleotide variant Pathogenic rs397514735 GRCh38 Chromosome 19, 10795378: 10795378
3 DNM2 NM_001005360.2(DNM2): c.2179C> T (p.His727Tyr) single nucleotide variant Uncertain significance rs142963320 GRCh37 Chromosome 19, 10939832: 10939832
4 DNM2 NM_001005360.2(DNM2): c.2179C> T (p.His727Tyr) single nucleotide variant Uncertain significance rs142963320 GRCh38 Chromosome 19, 10829156: 10829156
5 DNM2 NM_001005360.2(DNM2): c.197G> A (p.Arg66Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 10870449: 10870449
6 DNM2 NM_001005360.2(DNM2): c.197G> A (p.Arg66Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 10759773: 10759773

Expression for Lethal Congenital Contracture Syndrome 5

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 5.

Pathways for Lethal Congenital Contracture Syndrome 5

GO Terms for Lethal Congenital Contracture Syndrome 5

Sources for Lethal Congenital Contracture Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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