MCID: LTH029
MIFTS: 21

Lethal Congenital Contracture Syndrome 9

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Fetal diseases, Neuronal diseases, Bone 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 75 29 6
Lccs9 57 75
Contracture Syndrome, Lethal, Congenital, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
lethal congenital contracture syndrome 9:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lethal Congenital Contracture Syndrome 9

UniProtKB/Swiss-Prot : 75 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 hypertelorism and low-set ears

Description from OMIM: 616503

Related Diseases for Lethal Congenital Contracture Syndrome 9

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 9

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Growth Other:
intrauterine growth retardation

Skeletal Feet:
talipes equinovarus
talus valgus (rare)

Head And Neck Mouth:
thin upper lip

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

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 Ears:
low-set ears

Head And Neck Face:
micrognathia
triangular face

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

Respiratory Lung:
pulmonary hypoplasia

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

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

Human phenotypes related to Lethal Congenital Contracture Syndrome 9:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 scoliosis 32 occasional (7.5%) HP:0002650
4 depressed nasal bridge 32 HP:0005280
5 anteverted nares 32 HP:0000463
6 micrognathia 32 HP:0000347
7 intrauterine growth retardation 32 HP:0001511
8 polyhydramnios 32 HP:0001561
9 talipes equinovarus 32 HP:0001762
10 thin upper lip vermilion 32 HP:0000219
11 adducted thumb 32 HP:0001181
12 decreased fetal movement 32 HP:0001558
13 triangular face 32 HP:0000325
14 pulmonary hypoplasia 32 HP:0002089
15 congenital contracture 32 HP:0002803
16 short umbilical cord 32 occasional (7.5%) HP:0001196
17 ulnar deviation of the hand 32 HP:0009487
18 abnormality of the diaphragm 32 occasional (7.5%) HP:0000775

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:

41
Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 9

Variations for Lethal Congenital Contracture Syndrome 9

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

75
# Symbol AA change Variation ID SNP ID
1 ADGRG6 p.Val741Glu VAR_075146
2 ADGRG6 p.Val769Glu VAR_075147 rs793888525

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRG6 NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs749355583 GRCh37 Chromosome 6, 142630697: 142630697
2 ADGRG6 NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs749355583 GRCh38 Chromosome 6, 142309560: 142309560
3 ADGRG6 NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs) duplication Pathogenic rs793888524 GRCh37 Chromosome 6, 142726841: 142726841
4 ADGRG6 NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs) duplication Pathogenic rs793888524 GRCh38 Chromosome 6, 142405704: 142405704
5 ADGRG6 NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu) single nucleotide variant Pathogenic rs793888525 GRCh37 Chromosome 6, 142729324: 142729324
6 ADGRG6 NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu) single nucleotide variant Pathogenic rs793888525 GRCh38 Chromosome 6, 142408187: 142408187

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

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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
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44 MeSH
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49 NCI
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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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