LCCS3
MCID: LTH047
MIFTS: 23

Lethal Congenital Contracture Syndrome 3 (LCCS3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological 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 58 12 54 76
Lethal Congenital Contractural Syndrome 3 58 30 13 6 74
Lccs3 58 54 60 76
Lethal Congenital Contracture Syndrome Type 3 54 60
Multiple Contracture Syndrome, Israeli Bedouin Type B 58
Multiple Contractural Syndrome Israeli Bedouin Type B 76
Israeli Bedouin Type B Multiple Contracture Syndrome 12
Contracture Syndrome, Lethal, Congenital, Type 3 41

Characteristics:

Orphanet epidemiological data:

60
lethal congenital contracture syndrome type 3
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
lethal congenital contracture syndrome 3:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060653
OMIM 58 611369
MeSH 45 D001176
ICD10 via Orphanet 35 Q68.8
UMLS via Orphanet 75 C1969655
Orphanet 60 ORPHA137783
MedGen 43 C1969655
UMLS 74 C1969655

Summaries for Lethal Congenital Contracture Syndrome 3

UniProtKB/Swiss-Prot : 76 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. 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.

Description from OMIM: 611369

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:

33
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 skeletal muscle atrophy 33 HP:0003202
3 arthrogryposis multiplex congenita 33 HP:0002804

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PIP5K1C

Anatomical Context for Lethal Congenital Contracture Syndrome 3

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

42
Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 3

Variations for Lethal Congenital Contracture Syndrome 3

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

76
# Symbol AA change Variation ID SNP ID
1 PIP5K1C p.Asp253Asn VAR_036996 rs121908315

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIP5K1C NM_012398.2(PIP5K1C): c.757G> A (p.Asp253Asn) single nucleotide variant Pathogenic rs121908315 GRCh37 Chromosome 19, 3653452: 3653452
2 PIP5K1C NM_012398.2(PIP5K1C): c.757G> A (p.Asp253Asn) single nucleotide variant Pathogenic rs121908315 GRCh38 Chromosome 19, 3653454: 3653454

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 MYBPC1 PIP5K1C

Sources for Lethal Congenital Contracture Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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