LCCS9
MCID: LTH029
MIFTS: 23

Lethal Congenital Contracture Syndrome 9 (LCCS9)

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 9

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 9:

Name: Lethal Congenital Contracture Syndrome 9 57 72 29 6
Lccs9 57 72
Contracture Syndrome, Lethal, Congenital, Type 9 39

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
affected individuals die soon after birth due to respiratory failure


HPO:

31
lethal congenital contracture syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lethal Congenital Contracture Syndrome 9

UniProtKB/Swiss-Prot : 72 Lethal congenital contracture syndrome 9: 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, is also known as lccs9. An important gene associated with Lethal Congenital Contracture Syndrome 9 is ADGRG6 (Adhesion G Protein-Coupled Receptor G6). Affiliated tissues include skeletal muscle, 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:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 short umbilical cord 31 occasional (7.5%) HP:0001196
3 abnormality of the diaphragm 31 occasional (7.5%) HP:0000775
4 depressed nasal bridge 31 HP:0005280
5 hypertelorism 31 HP:0000316
6 anteverted nares 31 HP:0000463
7 myopathy 31 HP:0003198
8 intrauterine growth retardation 31 HP:0001511
9 micrognathia 31 HP:0000347
10 low-set ears 31 HP:0000369
11 talipes equinovarus 31 HP:0001762
12 polyhydramnios 31 HP:0001561
13 thin upper lip vermilion 31 HP:0000219
14 adducted thumb 31 HP:0001181
15 decreased fetal movement 31 HP:0001558
16 triangular face 31 HP:0000325
17 pulmonary hypoplasia 31 HP:0002089
18 congenital contracture 31 HP:0002803
19 preeclampsia 31 HP:0100602
20 ankylosis 31 HP:0031013
21 ulnar deviation of the hand 31 HP:0009487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 29 ADGRG6

Anatomical Context for Lethal Congenital Contracture Syndrome 9

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 9:

40
Skeletal Muscle

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 6
26004201 2015
2
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. 61
30549416 2019

Variations for Lethal Congenital Contracture Syndrome 9

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADGRG6 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) Duplication Pathogenic 192348 rs793888524 GRCh37: 6:142726839-142726840
GRCh38: 6:142405702-142405703
2 ADGRG6 NM_198569.3(ADGRG6):c.738dup (p.Ala247fs) Duplication Pathogenic 504275 rs1349317802 GRCh37: 6:142691594-142691595
GRCh38: 6:142370457-142370458
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.596G>A (p.Trp199Ter) SNV Pathogenic 1029349 GRCh37: 6:142691457-142691457
GRCh38: 6:142370320-142370320
5 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
6 ADGRG6 NM_198569.3(ADGRG6):c.2470G>C (p.Ala824Pro) SNV Uncertain significance 1029348 GRCh37: 6:142732477-142732477
GRCh38: 6:142411340-142411340
7 ADGRG6 NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=) SNV Benign 802278 rs989946 GRCh37: 6:142718801-142718801
GRCh38: 6:142397664-142397664
8 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:

72
# 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

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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