LCCS3
MCID: LTH047
MIFTS: 28

Lethal Congenital Contracture Syndrome 3 (LCCS3)

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 3

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 3:

Name: Lethal Congenital Contracture Syndrome 3 57 11 73 28 5
Lethal Congenital Contractural Syndrome 3 57 12 71
Lccs3 57 58 73
Multiple Contracture Syndrome, Israeli Bedouin Type B 57
Multiple Contractural Syndrome Israeli Bedouin Type B 73
Israeli Bedouin Type B Multiple Contracture Syndrome 11
Contracture Syndrome, Lethal, Congenital, Type 3 38
Lethal Congenital Contracture Syndrome Type 3 58

Characteristics:


Inheritance:

Lethal Congenital Contracture Syndrome 3: Autosomal recessive 57
Lethal Congenital Contracture Syndrome Type 3: Autosomal recessive 58

Prevelance:

Lethal Congenital Contracture Syndrome Type 3: <1/1000000 (Worldwide) 58

Age Of Onset:

Lethal Congenital Contracture Syndrome Type 3: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060653
OMIM® 57 611369
OMIM Phenotypic Series 57 PS253310
MeSH 43 D001176
ICD10 via Orphanet 32 Q68.8
UMLS via Orphanet 72 C1969655
Orphanet 58 ORPHA137783
MedGen 40 C1969655
UMLS 71 C1969655

Summaries for Lethal Congenital Contracture Syndrome 3

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 (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 bone, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy

Orphanet: 58 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

Disease Ontology: 11 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

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 3:



Diseases related to Lethal Congenital Contracture Syndrome 3

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 3

Human phenotypes related to Lethal Congenital Contracture Syndrome 3:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 30 HP:0002093
2 skeletal muscle atrophy 30 HP:0003202
3 multiple joint contractures 30 HP:0002828
4 arthrogryposis multiplex congenita 30 HP:0002804

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 Contracture Syndrome 3 28 PIP5K1C

Anatomical Context for Lethal Congenital Contracture Syndrome 3

Organs/tissues related to Lethal Congenital Contracture Syndrome 3:

MalaCards : Skeletal Muscle, Bone

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. 62 57 5
17701898 2007
2
Structural insights into lethal contractural syndrome type 3 (LCCS3) caused by a missense mutation of PIP5Kγ. 62
29959184 2018
3
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 62
18204449 2008

Variations for Lethal Congenital Contracture Syndrome 3

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 3:

5
# 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.1148T>C (p.Val383Ala) SNV Likely Benign
694416 rs1489575349 GRCh37: 19:3648686-3648686
GRCh38: 19:3648688-3648688
3 PIP5K1C NM_012398.3(PIP5K1C):c.1345+25C>T SNV Benign
1221119 GRCh37: 19:3645947-3645947
GRCh38: 19:3645949-3645949
4 PIP5K1C NM_012398.3(PIP5K1C):c.684G>A (p.Ser228=) SNV Benign
1253793 GRCh37: 19:3653525-3653525
GRCh38: 19:3653527-3653527
5 PIP5K1C NM_012398.3(PIP5K1C):c.1787+31G>A SNV Benign
1258350 GRCh37: 19:3641672-3641672
GRCh38: 19:3641674-3641674
6 PIP5K1C NM_012398.3(PIP5K1C):c.468+20C>T SNV Benign
1293116 GRCh37: 19:3660944-3660944
GRCh38: 19:3660946-3660946

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

73
# 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 8.8 PIP5K1C MYBPC1

Sources for Lethal Congenital Contracture Syndrome 3

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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