LCCS6
MCID: LTH031
MIFTS: 21

Lethal Congenital Contracture Syndrome 6 (LCCS6)

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 6

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 6:

Name: Lethal Congenital Contracture Syndrome 6 57 72 29 6 70
Lccs6 57 72
Contracture Syndrome, Lethal, Congenital, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 saudi arabian family (last curated february 2015)


HPO:

31
lethal congenital contracture syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616248
OMIM Phenotypic Series 57 PS253310
MeSH 44 D001176
SNOMED-CT via HPO 68 258211005 276369006 86203003
UMLS 70 C4015686

Summaries for Lethal Congenital Contracture Syndrome 6

UniProtKB/Swiss-Prot : 72 Lethal congenital contracture syndrome 6: 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. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities.

MalaCards based summary : Lethal Congenital Contracture Syndrome 6, also known as lccs6, is related to distal arthrogryposis and lethal congenital contracture syndrome. An important gene associated with Lethal Congenital Contracture Syndrome 6 is ZBTB42 (Zinc Finger And BTB Domain Containing 42). Affiliated tissues include skeletal muscle, and related phenotypes are macrocephaly and polyhydramnios

More information from OMIM: 616248 PS253310

Related Diseases for Lethal Congenital Contracture Syndrome 6

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 6

Human phenotypes related to Lethal Congenital Contracture Syndrome 6:

31
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 polyhydramnios 31 HP:0001561
3 decreased fetal movement 31 HP:0001558
4 congenital contracture 31 HP:0002803

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Prenatal Manifestations Movement:
reduced fetal movements

Abdomen Gastrointestinal:
absent stomach

Skeletal Hands:
fixed flexion of hands

Prenatal Manifestations Amniotic Fluid:
severe polyhydramnios

Skeletal Skull:
macrocephaly

Respiratory:
no respiratory effort at birth

Skeletal Limbs:
fixed-flexion deformity at hips
severely adducted lower limbs
fixed extension deformity of knees

Skeletal Feet:
dorsiflexion of feet

Clinical features from OMIM®:

616248 (Updated 05-Apr-2021)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 6

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 6

Genetic Tests for Lethal Congenital Contracture Syndrome 6

Genetic tests related to Lethal Congenital Contracture Syndrome 6:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 6 29 ZBTB42

Anatomical Context for Lethal Congenital Contracture Syndrome 6

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 6:

40
Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 6

Articles related to Lethal Congenital Contracture Syndrome 6:

# Title Authors PMID Year
1
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). 61 57 6
25055871 2014

Variations for Lethal Congenital Contracture Syndrome 6

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZBTB42 NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His) SNV Pathogenic 183176 rs730882163 GRCh37: 14:105268724-105268724
GRCh38: 14:104802387-104802387
2 ZBTB42 NM_001137601.3(ZBTB42):c.1088C>G (p.Thr363Arg) SNV Uncertain significance 1031875 GRCh37: 14:105268622-105268622
GRCh38: 14:104802285-104802285
3 ZBTB42 NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys) SNV Benign 803053 rs4983387 GRCh37: 14:105268228-105268228
GRCh38: 14:104801891-104801891

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 6:

72
# Symbol AA change Variation ID SNP ID
1 ZBTB42 p.Arg397His VAR_073265 rs730882163

Expression for Lethal Congenital Contracture Syndrome 6

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 6.

Pathways for Lethal Congenital Contracture Syndrome 6

GO Terms for Lethal Congenital Contracture Syndrome 6

Sources for Lethal Congenital Contracture Syndrome 6

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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