MCID: LTH042
MIFTS: 21

Lethal Congenital Contracture Syndrome 10

Categories: Genetic diseases, Respiratory diseases, Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Lethal Congenital Contracture Syndrome 10

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 10:

Name: Lethal Congenital Contracture Syndrome 10 54 71 29
Lethal Skeletal Dysplasia-Fetal Akinesia-Contractures-Thoracic Dysplasia-Pulmonary Hypoplasia Syndrome 56
Nek9-Related Lethal Skeletal Dysplasia 56
Lccs10 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 54 617022
Orphanet 56 ORPHA464366
ICD10 via Orphanet 34 Q77.2
MedGen 40 CN237173
MeSH 42 D001176

Summaries for Lethal Congenital Contracture Syndrome 10

UniProtKB/Swiss-Prot : 71 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 lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome. An important gene associated with Lethal Congenital Contracture Syndrome 10 is NEK9 (NIMA Related Kinase 9). Affiliated tissues include skeletal muscle, lung and bone.

Description from OMIM: 617022

Related Diseases for Lethal Congenital Contracture Syndrome 10

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 10

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
narrow palate

Growth- Other:
intrauterine growth retardation

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

Respiratory- Lung:
hypoplastic lungs

Prenatal Manifestations- Movement:
fetal akinesia

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

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- Face:
micrognathia
long philtrum

Skeletal- Feet:
talipes equinovarus

Skeletal- Hands:
adducted thumbs
overlapping fingers
lateral deviation of fingers

Skeletal- Spine:
thoracic scoliosis

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


Clinical features from OMIM:

617022

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 10

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Lethal Congenital Contracture Syndrome 10

Genetic Tests for Lethal Congenital Contracture Syndrome 10

Genetic tests related to Lethal Congenital Contracture Syndrome 10:

id Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 10 29

Anatomical Context for Lethal Congenital Contracture Syndrome 10

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

39
Skeletal Muscle, Lung, Bone, Heart, Spleen, Thymus

Publications for Lethal Congenital Contracture Syndrome 10

Variations for Lethal Congenital Contracture Syndrome 10

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 10:

6
id 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

Expression for Lethal Congenital Contracture Syndrome 10

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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