MCID: LTH027
MIFTS: 26

Lethal Congenital Contracture Syndrome 5

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 5

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 5:

Name: Lethal Congenital Contracture Syndrome 5 57 75 29 6 73
Lccs5 57 59 75
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome 59
Myopathy, Centronuclear, Lethal, Autosomal Recessive 57
Autosomal Recessive Lethal Centronuclear Myopathy 75
Contracture Syndrome, Lethal, Congenital, Type 5 40
Lethal Congenital Contracture Syndrome Type 5 59

Characteristics:

Orphanet epidemiological data:

59
fetal akinesia-cerebral and retinal hemorrhage syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
death in infancy
onset in utero
one family has been reported (last curated august 2013)

Inheritance:
autosomal recessive


HPO:

32
lethal congenital contracture syndrome 5:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot : 75 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 Indapamide 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lethal Congenital Contracture Syndrome 5:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 flexion contracture 32 HP:0001371
3 elevated serum creatine phosphokinase 32 HP:0003236
4 decreased nerve conduction velocity 32 HP:0000762
5 thin ribs 32 HP:0000883
6 polyhydramnios 32 HP:0001561
7 areflexia 32 HP:0001284
8 decreased fetal movement 32 HP:0001558
9 retinal hemorrhage 32 HP:0000573
10 generalized hypotonia 32 HP:0001290
11 small for gestational age 32 HP:0001518
12 congenital contracture 32 HP:0002803
13 centrally nucleated skeletal muscle fibers 32 HP:0003687

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
Indapamide Approved 26807-65-8 3702
3
Perindopril Approved 107133-36-8, 82834-16-0 107807
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 29 DNM2

Anatomical Context for Lethal Congenital Contracture Syndrome 5

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

41
Skeletal Muscle, Bone

Publications for Lethal Congenital Contracture Syndrome 5

Variations for Lethal Congenital Contracture Syndrome 5

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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