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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616503

MedGen ⁴² C4225303 CN235582

MeSH ⁴⁴ D001176

SNOMED-CT via HPO ⁶⁹ 258211005 194021007 22006008 more

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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

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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

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

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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:

⁴¹

Skeletal Muscle

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Publications for Lethal Congenital Contracture Syndrome 9

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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	PubmedIds
1	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	1328.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26004201

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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

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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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