LCCS5
MCID: LTH027
MIFTS: 25

Lethal Congenital Contracture Syndrome 5 (LCCS5)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Lethal Congenital Contracture Syndrome 5

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 5:

Name: Lethal Congenital Contracture Syndrome 5 57 73 71
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome 58 28 5
Lccs5 57 58 73
Myopathy, Centronuclear, Lethal, Autosomal Recessive 57
Autosomal Recessive Lethal Centronuclear Myopathy 73
Contracture Syndrome, Lethal, Congenital, Type 5 38
Lethal Congenital Contracture Syndrome Type 5 58

Characteristics:


Inheritance:

Lethal Congenital Contracture Syndrome 5: Autosomal recessive 57
Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome: Autosomal recessive 58

Prevelance:

Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
death in infancy
onset in utero
one family has been reported (last curated august 2013)


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 615368
OMIM Phenotypic Series 57 PS253310
MeSH 43 D001176
ICD10 via Orphanet 32 G71.2
Orphanet 58 ORPHA363409
UMLS 71 C3809272

Summaries for Lethal Congenital Contracture Syndrome 5

Orphanet: 58 Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

MalaCards based summary: Lethal Congenital Contracture Syndrome 5, is also known as fetal akinesia-cerebral and retinal hemorrhage syndrome. An important gene associated with Lethal Congenital Contracture Syndrome 5 is DNM2 (Dynamin 2). Affiliated tissues include skeletal muscle, bone marrow and bone, and related phenotypes are respiratory insufficiency and flexion contracture

UniProtKB/Swiss-Prot: 73 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.

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:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 30 HP:0002093
2 flexion contracture 30 HP:0001371
3 decreased nerve conduction velocity 30 HP:0000762
4 polyhydramnios 30 HP:0001561
5 areflexia 30 HP:0001284
6 decreased fetal movement 30 HP:0001558
7 retinal hemorrhage 30 HP:0000573
8 thin ribs 30 HP:0000883
9 small for gestational age 30 HP:0001518
10 generalized hypotonia 30 HP:0001290
11 congenital contracture 30 HP:0002803
12 centrally nucleated skeletal muscle fibers 30 HP:0003687
13 elevated circulating creatine kinase concentration 30 HP:0003236

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Respiratory:
respiratory insufficiency

Neurologic Peripheral Nervous System:
areflexia
decreased nerve conduction velocities

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

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

Head And Neck Eyes:
retinal hemorrhage

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 (Updated 24-Oct-2022)

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 Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome 28 DNM2

Anatomical Context for Lethal Congenital Contracture Syndrome 5

Organs/tissues related to Lethal Congenital Contracture Syndrome 5:

MalaCards : Skeletal Muscle, Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

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. 57 5
23092955 2013
2
Phenotype variability and histopathological findings in patients with a novel DNM2 mutation. 62
28971531 2018

Variations for Lethal Congenital Contracture Syndrome 5

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNM2 NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val) SNV Pathogenic
60688 rs397514735 GRCh37: 19:10906054-10906054
GRCh38: 19:10795378-10795378
2 DNM2 NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) SNV Uncertain Significance
562194 rs1568283807 GRCh37: 19:10870449-10870449
GRCh38: 19:10759773-10759773
3 DNM2 NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) SNV Uncertain Significance
327987 rs142963320 GRCh37: 19:10939832-10939832
GRCh38: 19:10829156-10829156
4 DNM2 NM_001005361.3(DNM2):c.236-29C>G SNV Benign
256866 rs3826803 GRCh37: 19:10883126-10883126
GRCh38: 19:10772450-10772450
5 DNM2 NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) SNV Not Provided
465285 rs1555717200 GRCh37: 19:10940867-10940867
GRCh38: 19:10830191-10830191

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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