LCCS10
MCID: LTH042
MIFTS: 23

Lethal Congenital Contracture Syndrome 10 (LCCS10)

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

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:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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

Related Diseases for Lethal Congenital Contracture Syndrome 10

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 10

Human phenotypes related to Lethal Congenital Contracture Syndrome 10:

31 (show all 23)
# Description HPO Frequency 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)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 10

Search Clinical Trials , 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:

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

Anatomical Context for Lethal Congenital Contracture Syndrome 10

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

40
Skeletal Muscle, Thymus, Spleen, Heart

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
26908619 2016

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

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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