LCCS6
MCID: LTH031
MIFTS: 23

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 58 76 30 6 74
Lccs6 58 76
Contracture Syndrome, Lethal, Congenital, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
lethal congenital contracture syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616248
MeSH 45 D001176
SNOMED-CT via HPO 70 258211005 276369006
UMLS 74 C4015686

Summaries for Lethal Congenital Contracture Syndrome 6

UniProtKB/Swiss-Prot : 76 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 lethal congenital contracture syndrome and congenital contractures. An important gene associated with Lethal Congenital Contracture Syndrome 6 is ZBTB42 (Zinc Finger And BTB Domain Containing 42). The drugs Indapamide and Gliclazide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are macrocephaly and decreased fetal movement

Description from OMIM: 616248

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:

33
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 decreased fetal movement 33 HP:0001558
3 congenital contracture 33 HP:0002803

Symptoms via clinical synopsis from OMIM:

58
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

Drugs for Lethal Congenital Contracture Syndrome 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Indapamide Approved 26807-65-8 3702
2
Gliclazide Approved 21187-98-4 3475
3
Perindopril Approved 107133-36-8, 82834-16-0 107807
4 Antihypertensive Agents
5 Indapamide, perindopril drug combination
6 Hypoglycemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Action in Diabetes and Vascular Disease Preterax and Diamicron MR Controlled Evaluation Post Trial Observational Study Completed NCT00949286

Search 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 30 ZBTB42

Anatomical Context for Lethal Congenital Contracture Syndrome 6

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

42
Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 6

Variations for Lethal Congenital Contracture Syndrome 6

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

76
# Symbol AA change Variation ID SNP ID
1 ZBTB42 p.Arg397His VAR_073265 rs730882163

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB42 NM_001137601.2(ZBTB42): c.1190G> A (p.Arg397His) single nucleotide variant Pathogenic rs730882163 GRCh38 Chromosome 14, 104802387: 104802387
2 ZBTB42 NM_001137601.2(ZBTB42): c.1190G> A (p.Arg397His) single nucleotide variant Pathogenic rs730882163 GRCh37 Chromosome 14, 105268724: 105268724

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
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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