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 ⁷⁵ ²⁹ ⁶

Lccs10 ⁵⁷ ⁷⁵

Lethal Skeletal Dysplasia-Fetal Akinesia-Contractures-Thoracic Dysplasia-Pulmonary Hypoplasia Syndrome ⁵⁹

Nek9-Related Lethal Skeletal Dysplasia ⁵⁹

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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: ³⁴

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: ⁵⁹

Rare respiratory diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 617022

Orphanet ⁵⁹ ORPHA464366

ICD10 via Orphanet ³⁴ Q77.2

MedGen ⁴² C4310760 CN237173

MeSH ⁴⁴ D001176

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 32958008 more

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Summaries for Lethal Congenital Contracture Syndrome 10

UniProtKB/Swiss-Prot : ⁷⁵ 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 lung, and related phenotypes are narrow palate and high palate

Description from OMIM: 617022

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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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Head And Neck Face:
long philtrum
micrognathia

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)

Head And Neck Mouth:
narrow palate
high-arched palate

Growth Other:
intrauterine growth retardation

Skeletal Hands:
overlapping fingers
adducted thumbs
lateral deviation of fingers

Respiratory Lung:
hypoplastic lungs

Prenatal Manifestations Movement:
fetal akinesia

AbdomenSpleen:
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 Amniotic Fluid:
oligohydramnios (in 1 patient)
hydrops fetalis (in 1 patient)

Clinical features from OMIM:

617022

Human phenotypes related to Lethal Congenital Contracture Syndrome 10:

³² (show all 19)

#	Description	HPO Source Accession
1	narrow palate ³²	HP:0000189
2	high palate ³²	HP:0000218
3	long philtrum ³²	HP:0000343
4	micrognathia ³²	HP:0000347
5	short neck ³²	HP:0000470
6	hypoplasia of the thymus ³²	HP:0000778
7	adducted thumb ³²	HP:0001181
8	intrauterine growth retardation ³²	HP:0001511
9	oligohydramnios ³²	HP:0001562
10	ventricular septal defect ³²	HP:0001629
11	cardiomegaly ³²	HP:0001640
12	talipes equinovarus ³²	HP:0001762
13	hydrops fetalis ³²	HP:0001789
14	fetal akinesia sequence ³²	HP:0001989
15	pulmonary hypoplasia ³²	HP:0002089
16	overriding aorta ³²	HP:0002623
17	thoracic scoliosis ³²	HP:0002943
18	overlapping fingers ³²	HP:0010557
19	stiff neck ³²	HP:0025258

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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	Lethal Congenital Contracture Syndrome 10 ²⁹	NEK9

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Anatomical Context for Lethal Congenital Contracture Syndrome 10

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

⁴¹

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

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Publications for Lethal Congenital Contracture Syndrome 10

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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	PubmedIds
1	NEK9	NIMA Related Kinase 9	Protein Coding	1377.71	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26908619

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Variations for Lethal Congenital Contracture Syndrome 10

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 10:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NEK9	NM_033116.5(NEK9): c.1489C> T (p.Arg497Ter)	single nucleotide variant	Pathogenic	rs757011098	GRCh38	Chromosome 14, 75106541: 75106541
2	NEK9	NM_033116.5(NEK9): c.1489C> T (p.Arg497Ter)	single nucleotide variant	Pathogenic	rs757011098	GRCh37	Chromosome 14, 75573244: 75573244

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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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