LCCS5
MCID: LTH027
MIFTS: 24

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 56 73 29 6 71
Lccs5 56 58 73
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome 58
Myopathy, Centronuclear, Lethal, Autosomal Recessive 56
Autosomal Recessive Lethal Centronuclear Myopathy 73
Contracture Syndrome, Lethal, Congenital, Type 5 39
Lethal Congenital Contracture Syndrome Type 5 58

Characteristics:

Orphanet epidemiological data:

58
fetal akinesia-cerebral and retinal hemorrhage syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
death in infancy
onset in utero
one family has been reported (last curated august 2013)

Inheritance:
autosomal recessive


HPO:

31
lethal congenital contracture syndrome 5:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 615368
OMIM Phenotypic Series 56 PS253310
MeSH 43 D001176
ICD10 via Orphanet 33 G71.2
Orphanet 58 ORPHA363409
UMLS 71 C3809272

Summaries for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot : 73 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). Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency and flexion contracture

More information from OMIM: 615368 PS253310

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 flexion contracture 31 HP:0001371
3 polyhydramnios 31 HP:0001561
4 generalized hypotonia 31 HP:0001290
5 areflexia 31 HP:0001284
6 decreased nerve conduction velocity 31 HP:0000762
7 thin ribs 31 HP:0000883
8 decreased fetal movement 31 HP:0001558
9 centrally nucleated skeletal muscle fibers 31 HP:0003687
10 retinal hemorrhage 31 HP:0000573
11 congenital contracture 31 HP:0002803
12 small for gestational age 31 HP:0001518
13 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory insufficiency

Neurologic Peripheral Nervous System:
areflexia
decreased nerve conduction velocities

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

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

Search Clinical Trials , 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:

40
Skeletal Muscle, Bone

Publications for Lethal Congenital Contracture Syndrome 5

Articles related to Lethal Congenital Contracture Syndrome 5:

# Title Authors PMID Year
1
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 56 6
23092955 2013
2
Phenotype variability and histopathological findings in patients with a novel DNM2 mutation. 61
28971531 2018

Variations for Lethal Congenital Contracture Syndrome 5

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNM2 NM_001005360.2(DNM2):c.1135T>G (p.Phe379Val)SNV Pathogenic 60688 rs397514735 19:10906054-10906054 19:10795378-10795378
2 DNM2 NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)SNV Conflicting interpretations of pathogenicity 327987 rs142963320 19:10939832-10939832 19:10829156-10829156
3 DNM2 NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln)SNV Uncertain significance 562194 rs1568283807 19:10870449-10870449 19:10759773-10759773

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

73
# Symbol AA change Variation ID SNP ID
1 DNM2 p.Phe379Val VAR_070163 rs397514735

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....