LCCS3
MCID: LTH047
MIFTS: 26

Lethal Congenital Contracture Syndrome 3 (LCCS3)

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 3

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 3:

Name: Lethal Congenital Contracture Syndrome 3 57 12 20 72
Lethal Congenital Contractural Syndrome 3 57 29 13 6 70
Lccs3 57 20 58 72
Lethal Congenital Contracture Syndrome Type 3 20 58
Multiple Contracture Syndrome, Israeli Bedouin Type B 57
Multiple Contractural Syndrome Israeli Bedouin Type B 72
Israeli Bedouin Type B Multiple Contracture Syndrome 12
Contracture Syndrome, Lethal, Congenital, Type 3 39

Characteristics:

Orphanet epidemiological data:

58
lethal congenital contracture syndrome type 3
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth


HPO:

31
lethal congenital contracture syndrome 3:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060653
OMIM® 57 611369
OMIM Phenotypic Series 57 PS253310
MeSH 44 D001176
ICD10 via Orphanet 33 Q68.8
UMLS via Orphanet 71 C1969655
Orphanet 58 ORPHA137783
MedGen 41 C1969655
UMLS 70 C1969655

Summaries for Lethal Congenital Contracture Syndrome 3

UniProtKB/Swiss-Prot : 72 Lethal congenital contracture syndrome 3: 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 (arthrogryposis). 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. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect.

MalaCards based summary : Lethal Congenital Contracture Syndrome 3, also known as lethal congenital contractural syndrome 3, is related to lethal congenital contracture syndrome and lethal congenital contracture syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome 3 is PIP5K1C (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma). Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy

Disease Ontology : 12 A lethal congenital contracture syndrome that has material basis in homozygous mutation in the PIP5K1C gene on chromosome 19p13.

More information from OMIM: 611369 PS253310

Related Diseases for Lethal Congenital Contracture Syndrome 3

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 3

Human phenotypes related to Lethal Congenital Contracture Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 skeletal muscle atrophy 31 HP:0003202
3 multiple joint contractures 31 HP:0002828
4 arthrogryposis multiplex congenita 31 HP:0002804

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
small or borderline to adequate size for gestational age

Skeletal Limbs:
severe multiple joint contractures

Respiratory:
respiratory insufficiency at birth, lethal

Muscle Soft Tissue:
severe muscle wasting and atrophy, primarily in the legs

Clinical features from OMIM®:

611369 (Updated 20-May-2021)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 3

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 3

Genetic Tests for Lethal Congenital Contracture Syndrome 3

Genetic tests related to Lethal Congenital Contracture Syndrome 3:

# Genetic test Affiliating Genes
1 Lethal Congenital Contractural Syndrome 3 29 PIP5K1C

Anatomical Context for Lethal Congenital Contracture Syndrome 3

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 3:

40
Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 3

Articles related to Lethal Congenital Contracture Syndrome 3:

# Title Authors PMID Year
1
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 61 57 6
17701898 2007
2
Structural insights into lethal contractural syndrome type 3 (LCCS3) caused by a missense mutation of PIP5Kγ. 61
29959184 2018
3
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 61
18204449 2008

Variations for Lethal Congenital Contracture Syndrome 3

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIP5K1C NM_012398.3(PIP5K1C):c.757G>A (p.Asp253Asn) SNV Pathogenic 4615 rs121908315 GRCh37: 19:3653452-3653452
GRCh38: 19:3653454-3653454
2 PIP5K1C NM_012398.3(PIP5K1C):c.1979dup (p.Ala661fs) Duplication Pathogenic 1033229 GRCh37: 19:3633459-3633460
GRCh38: 19:3633461-3633462
3 PIP5K1C NM_012398.3(PIP5K1C):c.1148T>C (p.Val383Ala) SNV Likely benign 694416 rs1489575349 GRCh37: 19:3648686-3648686
GRCh38: 19:3648688-3648688

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 PIP5K1C p.Asp253Asn VAR_036996 rs121908315

Expression for Lethal Congenital Contracture Syndrome 3

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 3.

Pathways for Lethal Congenital Contracture Syndrome 3

GO Terms for Lethal Congenital Contracture Syndrome 3

Biological processes related to Lethal Congenital Contracture Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 8.62 PIP5K1C MYBPC1

Sources for Lethal Congenital Contracture Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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