MCID: LTH042
MIFTS: 24

Lethal Congenital Contracture Syndrome 10

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone 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 53 71 28
Lccs10 53 71
Lethal Skeletal Dysplasia-Fetal Akinesia-Contractures-Thoracic Dysplasia-Pulmonary Hypoplasia Syndrome 55
Nek9-Related Lethal Skeletal Dysplasia 55

Characteristics:

OMIM:

53
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:



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 lccs10, and has symptoms including short neck, high palate and narrow palate. An important gene associated with Lethal Congenital Contracture Syndrome 10 is NEK9 (NIMA Related Kinase 9). Affiliated tissues include skeletal muscle, thymus and lung.

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:

53
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

Abdomen Spleen:
small spleen

Chest RibsSternum 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:

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

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 28 NEK9

Anatomical Context for Lethal Congenital Contracture Syndrome 10

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

38
Skeletal Muscle, Thymus, Lung, Bone, Heart, Spleen

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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....