LCCS9
MCID: LTH029
MIFTS: 26

Lethal Congenital Contracture Syndrome 9 (LCCS9)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Lethal Congenital Contracture Syndrome 9

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 9:

Name: Lethal Congenital Contracture Syndrome 9 57 73 28 5
Lccs9 57 73
Contracture Syndrome, Lethal, Congenital, Type 9 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
affected individuals die soon after birth due to respiratory failure


Classifications:



Summaries for Lethal Congenital Contracture Syndrome 9

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Lethal Congenital Contracture Syndrome 9, also known as lccs9, is related to lethal congenital contracture syndrome and congenital contractures. An important gene associated with Lethal Congenital Contracture Syndrome 9 is ADGRG6 (Adhesion G Protein-Coupled Receptor G6). Affiliated tissues include skeletal muscle, lung and respiratory system-lung, and related phenotypes are scoliosis and short umbilical cord

More information from OMIM: 616503 PS253310

Related Diseases for Lethal Congenital Contracture Syndrome 9

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 9

Human phenotypes related to Lethal Congenital Contracture Syndrome 9:

30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 Occasional (7.5%) HP:0002650
2 short umbilical cord 30 Occasional (7.5%) HP:0001196
3 abnormality of the diaphragm 30 Occasional (7.5%) HP:0000775
4 depressed nasal bridge 30 HP:0005280
5 hypertelorism 30 HP:0000316
6 anteverted nares 30 HP:0000463
7 myopathy 30 HP:0003198
8 intrauterine growth retardation 30 HP:0001511
9 micrognathia 30 HP:0000347
10 low-set ears 30 HP:0000369
11 talipes equinovarus 30 HP:0001762
12 polyhydramnios 30 HP:0001561
13 thin upper lip vermilion 30 HP:0000219
14 adducted thumb 30 HP:0001181
15 decreased fetal movement 30 HP:0001558
16 triangular face 30 HP:0000325
17 pulmonary hypoplasia 30 HP:0002089
18 congenital contracture 30 HP:0002803
19 preeclampsia 30 HP:0100602
20 ankylosis 30 HP:0031013
21 ulnar deviation of the hand 30 HP:0009487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Nose:
depressed nasal bridge
anteverted nares

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
premature amniorrhexis (in some pregnancies)

Head And Neck Mouth:
thin upper lip

Skeletal Spine:
scoliosis (rare)
segmentation anomalies (rare)

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Limbs:
flexion contractures of wrists
flexion contractures of elbows
extension contractures of elbows (rare)
extension contracture of arms (rare)
ankylosis of knee joint

Prenatal Manifestations Placenta And Umbilical Cord:
short umbilical cord (rare)

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
micrognathia
triangular face

Skeletal Feet:
talipes equinovarus
talus valgus (rare)

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
adducted thumbs
ulnar deviation of hands
flexion contractures of fingers

Muscle Soft Tissue:
reduced muscle bulk
nonspecific myopathy seen on biopsy
variation in skeletal muscle fiber diameter
atrophic skeletal muscle fibers on myosin staining

Chest Diaphragm:
diaphragmatic atrophy
diaphragmatic defect (rare)

Skin Nails Hair Skin:
pterygium of axilla (rare)
pterygium of elbow (rare)
reduced digital creases (rare)
sparse dermal ridges (rare)

Prenatal Manifestations Maternal:
severe preeclampsia (in some pregnancies)

Clinical features from OMIM®:

616503 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 9

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 9

Genetic Tests for Lethal Congenital Contracture Syndrome 9

Genetic tests related to Lethal Congenital Contracture Syndrome 9:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 9 28 ADGRG6

Anatomical Context for Lethal Congenital Contracture Syndrome 9

Organs/tissues related to Lethal Congenital Contracture Syndrome 9:

MalaCards : Skeletal Muscle, Lung
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Lethal Congenital Contracture Syndrome 9

Articles related to Lethal Congenital Contracture Syndrome 9:

# Title Authors PMID Year
1
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. 57 5
26004201 2015
2
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. 62
36210633 2022
3
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. 62
30549416 2019

Variations for Lethal Congenital Contracture Syndrome 9

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 9:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADGRG6 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) DUP Pathogenic
192348 rs793888524 GRCh37: 6:142726839-142726840
GRCh38: 6:142405702-142405703
2 ADGRG6 NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter) SNV Pathogenic
1342704 GRCh37: 6:142726916-142726916
GRCh38: 6:142405779-142405779
3 ADGRG6 NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) SNV Pathogenic
192349 rs793888525 GRCh37: 6:142729324-142729324
GRCh38: 6:142408187-142408187
4 ADGRG6 NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) SNV Conflicting Interpretations Of Pathogenicity
192347 rs749355583 GRCh37: 6:142630697-142630697
GRCh38: 6:142309560-142309560
5 ADGRG6 NM_198569.3(ADGRG6):c.2470G>C (p.Ala824Pro) SNV Uncertain Significance
1029348 rs1443422483 GRCh37: 6:142732477-142732477
GRCh38: 6:142411340-142411340
6 ADGRG6 NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=) SNV Benign
802278 rs989946 GRCh37: 6:142718801-142718801
GRCh38: 6:142397664-142397664
7 ADGRG6 NM_198569.3(ADGRG6):c.3380A>G (p.Gln1127Arg) SNV Benign
802279 rs1262686 GRCh37: 6:142758631-142758631
GRCh38: 6:142437494-142437494

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 9:

73
# Symbol AA change Variation ID SNP ID
1 ADGRG6 p.Val741Glu VAR_075146
2 ADGRG6 p.Val769Glu VAR_075147 rs793888525

Expression for Lethal Congenital Contracture Syndrome 9

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 9.

Pathways for Lethal Congenital Contracture Syndrome 9

GO Terms for Lethal Congenital Contracture Syndrome 9

Sources for Lethal Congenital Contracture Syndrome 9

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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