MCID: LTH031
MIFTS: 23

Lethal Congenital Contracture Syndrome 6

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Fetal diseases, Neuronal diseases, Bone 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 75 29 6 73
Lccs6 57 75
Contracture Syndrome, Lethal, Congenital, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
lethal congenital contracture syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616248
MeSH 44 D001176
SNOMED-CT via HPO 69 258211005 276369006
UMLS 73 C4015686

Summaries for Lethal Congenital Contracture Syndrome 6

UniProtKB/Swiss-Prot : 75 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 Gliclazide and Indapamide 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Abdomen Gastrointestinal:
absent stomach

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

Skeletal Feet:
dorsiflexion of feet

Prenatal Manifestations Amniotic Fluid:
severe polyhydramnios

Respiratory:
no respiratory effort at birth

Skeletal Skull:
macrocephaly

Skeletal Hands:
fixed flexion of hands

Prenatal Manifestations Movement:
reduced fetal movements


Clinical features from OMIM:

616248

Human phenotypes related to Lethal Congenital Contracture Syndrome 6:

32
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 decreased fetal movement 32 HP:0001558
3 congenital contracture 32 HP:0002803

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
Gliclazide Approved 21187-98-4 3475
2
Indapamide Approved 26807-65-8 3702
3
Perindopril Approved 107133-36-8, 82834-16-0 107807
4 Antihypertensive Agents
5 Hypoglycemic Agents
6 Indapamide, perindopril drug combination

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 29 ZBTB42

Anatomical Context for Lethal Congenital Contracture Syndrome 6

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

41
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:

75
# 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 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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