MCID: LTH047
MIFTS: 22

Lethal Congenital Contracture Syndrome 3

Categories: Genetic diseases, Rare diseases, Fetal diseases, Respiratory diseases, Neuronal diseases, Bone 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 53 75
Lethal Congenital Contractural Syndrome 3 57 29 13 6 73
Lccs3 57 53 59 75
Lethal Congenital Contracture Syndrome Type 3 53 59
Multiple Contracture Syndrome, Israeli Bedouin Type B 57
Multiple Contractural Syndrome Israeli Bedouin Type B 75
Israeli Bedouin Type B Multiple Contracture Syndrome 12
Contracture Syndrome, Lethal, Congenital, Type 3 40

Characteristics:

Orphanet epidemiological data:

59
lethal congenital contracture syndrome type 3
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
lethal congenital contracture syndrome 3:
Inheritance autosomal recessive inheritance
Mortality/Aging neonatal death


Classifications:



External Ids:

OMIM 57 611369
Disease Ontology 12 DOID:0060653
ICD10 33 Q68.8
Orphanet 59 ORPHA137783
ICD10 via Orphanet 34 Q68.8
UMLS via Orphanet 74 C1969655
MedGen 42 C1969655
MeSH 44 D001176
UMLS 73 C1969655

Summaries for Lethal Congenital Contracture Syndrome 3

UniProtKB/Swiss-Prot : 75 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 arthrogryposis multiplex congenita

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lethal Congenital Contracture Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 arthrogryposis multiplex congenita 32 HP:0002804
3 skeletal muscle atrophy 32 HP:0003202

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:

41
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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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