Lethal Congenital Contracture Syndrome 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616503

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴⁴ D001176

MedGen ⁴¹ C4225303 CN235582

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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

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Related Diseases for Lethal Congenital Contracture Syndrome 9

Diseases in the Lethal Congenital Contracture Syndrome family:

Lethal Congenital Contracture Syndrome 1	Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 3	Lethal Congenital Contracture Syndrome 4
Lethal Congenital Contracture Syndrome 5	Lethal Congenital Contracture Syndrome 6
Lethal Congenital Contracture Syndrome 7	Lethal Congenital Contracture Syndrome 8
Lethal Congenital Contracture Syndrome 9	Lethal Congenital Contracture Syndrome 10
Lethal Congenital Contracture Syndrome 11

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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)

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 9

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

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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

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Anatomical Context for Lethal Congenital Contracture Syndrome 9

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

⁴⁰

Skeletal Muscle

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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	Ravenscroft G...Laing NG	26004201	2015
2	GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. ⁶¹	Hosseini M...Kahrizi K	30549416	2019

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Genes for Lethal Congenital Contracture Syndrome 9

Genes related to Lethal Congenital Contracture Syndrome 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	1318.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26004201

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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

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Expression for Lethal Congenital Contracture Syndrome 9

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

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Pathways for Lethal Congenital Contracture Syndrome 9

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GO Terms for Lethal Congenital Contracture Syndrome 9

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Sources for Lethal Congenital Contracture Syndrome 9

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⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Lethal Congenital Contracture Syndrome 9 (LCCS9)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 9

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 9:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 9

Related Diseases for Lethal Congenital Contracture Syndrome 9

Diseases in the Lethal Congenital Contracture Syndrome family:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 9

Human phenotypes related to Lethal Congenital Contracture Syndrome 9:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 9

Genetic Tests for Lethal Congenital Contracture Syndrome 9

Genetic tests related to Lethal Congenital Contracture Syndrome 9:

Anatomical Context for Lethal Congenital Contracture Syndrome 9

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

Publications for Lethal Congenital Contracture Syndrome 9

Articles related to Lethal Congenital Contracture Syndrome 9:

Genes for Lethal Congenital Contracture Syndrome 9

Genes related to Lethal Congenital Contracture Syndrome 9 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 9

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 9:

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

Expression 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