MCID: LTH042
MIFTS: 24

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 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:



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

Related Diseases for Lethal Congenital Contracture Syndrome 10

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 Frequency 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

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:

41
Skeletal Muscle, Thymus, Lung, Spleen, Heart, Bone

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
2 NEK9 NM_033116.5(NEK9): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs757011098 GRCh37 Chromosome 14, 75573244: 75573244

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....