LCCS6
MCID: LTH031
MIFTS: 21

Lethal Congenital Contracture Syndrome 6 (LCCS6)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological 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 56 73 29 6 71
Lccs6 56 73
Contracture Syndrome, Lethal, Congenital, Type 6 39

Characteristics:

OMIM:

56
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 56 616248
OMIM Phenotypic Series 56 PS253310
MeSH 43 D001176
SNOMED-CT via HPO 68 258211005 276369006 86203003
UMLS 71 C4015686

Summaries for Lethal Congenital Contracture Syndrome 6

UniProtKB/Swiss-Prot : 73 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 alkuraya-kucinskas syndrome and distal arthrogryposis. 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

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 6:



Diseases related to 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:

56
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

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 6 56
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 GRCh37 Pos GRCh38 Pos
1 ZBTB42 NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His)SNV Pathogenic 183176 rs730882163 14:105268724-105268724 14:104802387-104802387
2 ZBTB42 NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys)SNV Benign 803053 14:105268228-105268228 14:104801891-104801891

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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