Lethal Congenital Contracture Syndrome 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 10

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 10:

Name: Lethal Congenital Contracture Syndrome 10 ⁵⁷ ⁷³

Nek9-Related Lethal Skeletal Dysplasia ⁵⁸ ²⁸ ⁵

Lccs10 ⁵⁷ ⁷³

Lethal Skeletal Dysplasia-Fetal Akinesia-Contractures-Thoracic Dysplasia-Pulmonary Hypoplasia Syndrome ⁵⁸

Characteristics:

Inheritance:

Lethal Congenital Contracture Syndrome 10: Autosomal recessive ⁵⁷

Nek9-Related Lethal Skeletal Dysplasia: Autosomal recessive ⁵⁸

Prevelance:

Nek9-Related Lethal Skeletal Dysplasia: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Nek9-Related Lethal Skeletal Dysplasia: Antenatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
based on report of 5 patients from 2 likely related irish traveler families (last curated july 2016)

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Short rib syndrome

Orphanet: ⁵⁸

Rare respiratory diseases

Rare bone diseases

Developmental anomalies during embryogenesis

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Summaries for Lethal Congenital Contracture Syndrome 10

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 10, is also known as nek9-related lethal skeletal dysplasia. An important gene associated with Lethal Congenital Contracture Syndrome 10 is NEK9 (NIMA Related Kinase 9). Affiliated tissues include bone, skeletal muscle and thymus, and related phenotypes are high palate and short neck

Orphanet: ⁵⁸ NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

More information from OMIM: 617022 PS253310

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Related Diseases for Lethal Congenital Contracture Syndrome 10

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 10

Human phenotypes related to Lethal Congenital Contracture Syndrome 10:

³⁰ (show all 23)

#	Description	HPO Source Accession
1	high palate ³⁰	HP:0000218
2	short neck ³⁰	HP:0000470
3	narrow palate ³⁰	HP:0000189
4	cardiomegaly ³⁰	HP:0001640
5	broad ribs ³⁰	HP:0000885
6	hydrops fetalis ³⁰	HP:0001789
7	intrauterine growth retardation ³⁰	HP:0001511
8	micrognathia ³⁰	HP:0000347
9	talipes equinovarus ³⁰	HP:0001762
10	fetal akinesia sequence ³⁰	HP:0001989
11	long philtrum ³⁰	HP:0000343
12	hypoplasia of the thymus ³⁰	HP:0000778
13	ventricular septal defect ³⁰	HP:0001629
14	adducted thumb ³⁰	HP:0001181
15	overriding aorta ³⁰	HP:0002623
16	narrow chest ³⁰	HP:0000774
17	omphalocele ³⁰	HP:0001539
18	oligohydramnios ³⁰	HP:0001562
19	overlapping fingers ³⁰	HP:0010557
20	pulmonary hypoplasia ³⁰	HP:0002089
21	torticollis ³⁰	HP:0000473
22	thoracic scoliosis ³⁰	HP:0002943
23	stiff neck ³⁰	HP:0025258

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Neck:
short neck
stiff neck
small thymus
reduced flexion of neck
torticollis, right

Growth Other:
intrauterine growth retardation

Skeletal Feet:
talipes equinovarus

Skeletal Spine:
thoracic scoliosis

Prenatal Manifestations Movement:
fetal akinesia

Abdomen External Features:
omphalocele (in 1 patient)
protruding abdomen (in 1 patient)

Chest External Features:
narrow chest and thorax

Chest Diaphragm:
intact diaphragm but bulging upwards (in 1 patient)

Muscle Soft Tissue:
variation in fiber size with some very small fibers (in 1 patient)
changes compatible with central denervation (in 1 patient)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios (in 1 patient)

Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Face:
micrognathia
long philtrum

Skeletal Hands:
overlapping fingers
adducted thumbs
lateral deviation of fingers

Respiratory Lung:
hypoplastic lungs

Cardiovascular Heart:
ventricular septal defect (in 1 patient)
double outlet ventricles (in 1 patient)
overriding aorta (in 1 patient)
enlarged heart (in 1 patient)

Abdomen Spleen:
small spleen

Chest Ribs Sternum Clavicles And Scapulae:
short broad ribs
narrow rib cage

Skeletal Limbs:
multiple contractures
shortening of upper and lower limbs
bowed short femurs (in 1 family)

Prenatal Manifestations:
hydrops fetalis (in 1 patient)

Clinical features from OMIM®:

617022 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 10

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 10

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Genetic Tests for Lethal Congenital Contracture Syndrome 10

Genetic tests related to Lethal Congenital Contracture Syndrome 10:

#	Genetic test	Affiliating Genes
1	Nek9-Related Lethal Skeletal Dysplasia ²⁸	NEK9

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Anatomical Context for Lethal Congenital Contracture Syndrome 10

Organs/tissues related to Lethal Congenital Contracture Syndrome 10:

MalaCards : Bone, Skeletal Muscle, Thymus, Spleen, Heart, Lung

ODiseA: Respiratory System-Lung, Respiratory System

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Publications for Lethal Congenital Contracture Syndrome 10

Articles related to Lethal Congenital Contracture Syndrome 10:

#	Title	Authors	PMID	Year
1	Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. ⁵⁷ ⁵	Casey JP...Lynch SA	26908619	2016

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Genes for Lethal Congenital Contracture Syndrome 10

Genes related to Lethal Congenital Contracture Syndrome 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NEK9	NIMA Related Kinase 9	Protein Coding	1358.05	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	26908619

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Variations for Lethal Congenital Contracture Syndrome 10

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 10:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NEK9	NM_033116.6(NEK9):c.1489C>T (p.Arg497Ter)	SNV	Pathogenic	242929	rs757011098	GRCh37: 14:75573244-75573244 GRCh38: 14:75106541-75106541
2	NEK9	NM_033116.6(NEK9):c.190G>A (p.Gly64Arg)	SNV	Uncertain Significance	830039	rs1484479258	GRCh37: 14:75593435-75593435 GRCh38: 14:75126732-75126732
3	NEK9	NM_033116.6(NEK9):c.1126G>A (p.Ala376Thr)	SNV	Likely Benign	982714	rs370474070	GRCh37: 14:75576444-75576444 GRCh38: 14:75109741-75109741
4	NEK9	NM_033116.6(NEK9):c.324C>T (p.His108=)	SNV	Benign	1181094		GRCh37: 14:75590822-75590822 GRCh38: 14:75124119-75124119
5	NEK9	NM_033116.6(NEK9):c.300T>A (p.Ile100=)	SNV	Benign	1253709		GRCh37: 14:75590846-75590846 GRCh38: 14:75124143-75124143
6	NEK9	NM_033116.6(NEK9):c.*13G>A	SNV	Benign	1325899		GRCh37: 14:75551254-75551254 GRCh38: 14:75084551-75084551

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Expression for Lethal Congenital Contracture Syndrome 10

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 10.

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Pathways for Lethal Congenital Contracture Syndrome 10

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GO Terms for Lethal Congenital Contracture Syndrome 10

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Sources for Lethal Congenital Contracture Syndrome 10

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

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¹¹ Disease Ontology

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCCS10 MCID: LTH042 MIFTS: 25	Lethal Congenital Contracture Syndrome 10 (LCCS10) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Lethal Congenital Contracture Syndrome 10 (LCCS10)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 10

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 10:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 10

Related Diseases for Lethal Congenital Contracture Syndrome 10

Diseases in the Lethal Congenital Contracture Syndrome family:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 10

Human phenotypes related to Lethal Congenital Contracture Syndrome 10:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 10

Genetic Tests for Lethal Congenital Contracture Syndrome 10

Genetic tests related to Lethal Congenital Contracture Syndrome 10:

Anatomical Context for Lethal Congenital Contracture Syndrome 10

Organs/tissues related to Lethal Congenital Contracture Syndrome 10:

Publications for Lethal Congenital Contracture Syndrome 10

Articles related to Lethal Congenital Contracture Syndrome 10:

Genes for Lethal Congenital Contracture Syndrome 10

Genes related to Lethal Congenital Contracture Syndrome 10 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 10

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 10:

Expression for Lethal Congenital Contracture Syndrome 10

Pathways for Lethal Congenital Contracture Syndrome 10

GO Terms for Lethal Congenital Contracture Syndrome 10

Sources for Lethal Congenital Contracture Syndrome 10