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

Sources

Aliases & Classifications for Lethal Congenital Contracture Syndrome 10

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 10:

Name: Lethal Congenital Contracture Syndrome 10 ⁵⁷ ⁷² ²⁹ ⁶

Lccs10 ⁵⁷ ⁷²

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

Nek9-Related Lethal Skeletal Dysplasia ⁵⁸

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

lethal congenital contracture syndrome 10:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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

External Ids:

OMIM® ⁵⁷ 617022

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴⁴ D001176

ICD10 via Orphanet ³³ Q77.2

Orphanet ⁵⁸ ORPHA464366

MedGen ⁴¹ C4310760 CN237173

Sources

Summaries for Lethal Congenital Contracture Syndrome 10

UniProtKB/Swiss-Prot : ⁷² Lethal congenital contracture syndrome 10: 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 lccs10. An important gene associated with Lethal Congenital Contracture Syndrome 10 is NEK9 (NIMA Related Kinase 9). Affiliated tissues include skeletal muscle, thymus and spleen, and related phenotypes are high palate and short neck

More information from OMIM: 617022 PS253310

Sources

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

Sources

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 10

Human phenotypes related to Lethal Congenital Contracture Syndrome 10:

³¹ (show all 23)

#	Description	HPO Source Accession
1	high palate ³¹	HP:0000218
2	short neck ³¹	HP:0000470
3	narrow palate ³¹	HP:0000189
4	cardiomegaly ³¹	HP:0001640
5	broad ribs ³¹	HP:0000885
6	hydrops fetalis ³¹	HP:0001789
7	intrauterine growth retardation ³¹	HP:0001511
8	micrognathia ³¹	HP:0000347
9	talipes equinovarus ³¹	HP:0001762
10	fetal akinesia sequence ³¹	HP:0001989
11	long philtrum ³¹	HP:0000343
12	hypoplasia of the thymus ³¹	HP:0000778
13	ventricular septal defect ³¹	HP:0001629
14	adducted thumb ³¹	HP:0001181
15	overriding aorta ³¹	HP:0002623
16	narrow chest ³¹	HP:0000774
17	omphalocele ³¹	HP:0001539
18	oligohydramnios ³¹	HP:0001562
19	torticollis ³¹	HP:0000473
20	overlapping fingers ³¹	HP:0010557
21	pulmonary hypoplasia ³¹	HP:0002089
22	thoracic scoliosis ³¹	HP:0002943
23	stiff neck ³¹	HP:0025258

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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

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 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

Prenatal Manifestations Movement:
fetal akinesia

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 05-Apr-2021)

Sources

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 10

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

Sources

Genetic Tests for Lethal Congenital Contracture Syndrome 10

Genetic tests related to Lethal Congenital Contracture Syndrome 10:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 10 ²⁹	NEK9

Sources

Anatomical Context for Lethal Congenital Contracture Syndrome 10

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 10:

⁴⁰

Skeletal Muscle, Thymus, Spleen, Heart

Sources

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 ⁶	Casey JP...Lynch SA	26908619	2016

Sources

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	1367.41	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26908619

Sources

Variations for Lethal Congenital Contracture Syndrome 10

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 10:

⁶

#	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		GRCh37: 14:75576444-75576444 GRCh38: 14:75109741-75109741

Sources

Expression for Lethal Congenital Contracture Syndrome 10

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

Sources

Pathways for Lethal Congenital Contracture Syndrome 10

Sources

GO Terms for Lethal Congenital Contracture Syndrome 10

Sources

Sources for Lethal Congenital Contracture Syndrome 10

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Lethal Congenital Contracture Syndrome 10 (LCCS10)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 10

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 10:

Characteristics:

OMIM®:

HPO:

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

MalaCards 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