LH3 DEFICIENCY
MCID: BNF003
MIFTS: 22

Bone Fragility with Contractures, Arterial Rupture, and Deafness (LH3 DEFICIENCY)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bone Fragility with Contractures, Arterial Rupture, and Deafness

MalaCards integrated aliases for Bone Fragility with Contractures, Arterial Rupture, and Deafness:

Name: Bone Fragility with Contractures, Arterial Rupture, and Deafness 58 30 6 41 74
Lysyl Hydroxylase 3 Deficiency 58 76 38 13
Lh3 Deficiency 58 76
Connective Tissue Disorder Due to Lysyl Hydroxylase-3 Deficiency 60
Bone Fragility-Contractures-Arterial Rupture-Deafness Syndrome 60
Bone Fragility with Contractures Arterial Rupture and Deafness 76
Connective Tissue Disorder Due to Lh3 Deficiency 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
bone fragility with contractures, arterial rupture, and deafness:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bone Fragility with Contractures, Arterial Rupture, and Deafness

UniProtKB/Swiss-Prot : 76 Lysyl hydroxylase 3 deficiency: Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome.

MalaCards based summary : Bone Fragility with Contractures, Arterial Rupture, and Deafness, is also known as lysyl hydroxylase 3 deficiency. An important gene associated with Bone Fragility with Contractures, Arterial Rupture, and Deafness is PLOD3 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3), and among its related pathways/superpathways are Lysine degradation and Other types of O-glycan biosynthesis. Affiliated tissues include bone, and related phenotypes are malar flattening and low-set ears

Description from OMIM: 612394

Related Diseases for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Symptoms & Phenotypes for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Human phenotypes related to Bone Fragility with Contractures, Arterial Rupture, and Deafness:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 low-set ears 33 HP:0000369
3 osteopenia 33 HP:0000938
4 scoliosis 33 HP:0002650
5 hearing impairment 33 HP:0000365
6 cataract 33 HP:0000518
7 global developmental delay 33 HP:0001263
8 short nose 33 HP:0003196
9 anteverted nares 33 HP:0000463
10 coarse hair 33 HP:0002208
11 long philtrum 33 HP:0000343
12 platyspondyly 33 HP:0000926
13 pathologic fracture 33 HP:0002756
14 flat face 33 HP:0012368
15 intrauterine growth retardation 33 HP:0001511
16 postnatal growth retardation 33 HP:0008897
17 myopia 33 HP:0000545
18 elbow flexion contracture 33 HP:0002987
19 abnormality of the pinna 33 HP:0000377
20 talipes equinovarus 33 HP:0001762
21 downturned corners of mouth 33 HP:0002714
22 bruising susceptibility 33 HP:0000978
23 nail dysplasia 33 HP:0002164
24 thenar muscle atrophy 33 HP:0003393
25 dilatation of the cerebral artery 33 HP:0004944
26 decreased palmar creases 33 HP:0006184
27 j-shaped sella turcica 33 HP:0002680
28 shallow orbits 33 HP:0000586
29 arterial rupture 33 HP:0025019
30 diaphragmatic eventration 33 HP:0009110
31 hypoplasia of the capital femoral epiphysis 33 HP:0003090

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
simple ears
hearing loss, bilateral sensorineural (profound)

Head And Neck Nose:
short nose
anteverted nares

Head And Neck Face:
long philtrum
flat facial profile

Growth Other:
postnatal growth retardation
intrauterine growth retardation (iugr)

Skeletal Feet:
talipes equinovarus

Skeletal Hands:
thenar muscle atrophy
decreased palmar creases
hypothenar muscle atrophy
flexion contractures (pip joints)

Skeletal Skull:
j-shaped sella turcica

Chest Diaphragm:
diaphragmatic eventration

Skin Nails Hair Nails:
dysplastic nails

Skeletal Limbs:
elbow contractures
prominent knees

Muscle Soft Tissue:
reduced muscle mass

Growth Weight:
birth weight below 0.3 percentile

Skeletal:
osteopenia
pathologic fractures

Skin Nails Hair Hair:
coarse hair

Skeletal Spine:
platyspondyly
scoliosis (progressive)
small odontoid

Head And Neck Eyes:
myopia
shallow orbits
cataracts

Head And Neck Mouth:
downturned corners of mouth

Skin Nails Hair Skin:
decreased palmar creases
easy bruisability
blistering (fingers, toes, pinnae)

Cardiovascular Vascular:
arterial rupture
popliteal aneurysm
cerebral aneurysm

Neurologic Central Nervous System:
developmental delay
cerebral arterial hemorrhage

Head And Neck Teeth:
normal teeth

Skeletal Pelvis:
small capital femoral epiphyses

Growth Height:
birth length below 0.3 percentile

Laboratory Abnormalities:
abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)
decreased serum glucosyltransferase (ggt) activity

Clinical features from OMIM:

612394

Drugs & Therapeutics for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Search Clinical Trials , NIH Clinical Center for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Genetic Tests for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Genetic tests related to Bone Fragility with Contractures, Arterial Rupture, and Deafness:

# Genetic test Affiliating Genes
1 Bone Fragility with Contractures, Arterial Rupture, and Deafness 30 PLOD3

Anatomical Context for Bone Fragility with Contractures, Arterial Rupture, and Deafness

MalaCards organs/tissues related to Bone Fragility with Contractures, Arterial Rupture, and Deafness:

42
Bone

Publications for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Variations for Bone Fragility with Contractures, Arterial Rupture, and Deafness

UniProtKB/Swiss-Prot genetic disease variations for Bone Fragility with Contractures, Arterial Rupture, and Deafness:

76
# Symbol AA change Variation ID SNP ID
1 PLOD3 p.Asn223Ser VAR_054913 rs121434414

ClinVar genetic disease variations for Bone Fragility with Contractures, Arterial Rupture, and Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLOD3 NM_001084.4(PLOD3): c.668A> G (p.Asn223Ser) single nucleotide variant Pathogenic rs121434414 GRCh37 Chromosome 7, 100858381: 100858381
2 PLOD3 NM_001084.4(PLOD3): c.668A> G (p.Asn223Ser) single nucleotide variant Pathogenic rs121434414 GRCh38 Chromosome 7, 101215100: 101215100
3 PLOD3 NM_001084.4(PLOD3): c.2071delT (p.Cys691Alafs) deletion Pathogenic rs786205872 GRCh37 Chromosome 7, 100849708: 100849708
4 PLOD3 NM_001084.4(PLOD3): c.2071delT (p.Cys691Alafs) deletion Pathogenic rs786205872 GRCh38 Chromosome 7, 101206427: 101206427
5 PLOD3 NM_001084.4(PLOD3): c.1890T> G (p.Tyr630Ter) single nucleotide variant Likely pathogenic rs748105435 GRCh37 Chromosome 7, 100850904: 100850904
6 PLOD3 NM_001084.4(PLOD3): c.1890T> G (p.Tyr630Ter) single nucleotide variant Likely pathogenic rs748105435 GRCh38 Chromosome 7, 101207623: 101207623
7 PLOD3 NM_001084.5(PLOD3): c.809C> T (p.Pro270Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 101212912: 101212912
8 PLOD3 NM_001084.5(PLOD3): c.809C> T (p.Pro270Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 100856193: 100856193

Expression for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Search GEO for disease gene expression data for Bone Fragility with Contractures, Arterial Rupture, and Deafness.

Pathways for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Pathways related to Bone Fragility with Contractures, Arterial Rupture, and Deafness according to KEGG:

38
# Name Kegg Source Accession
1 Lysine degradation hsa00310
2 Other types of O-glycan biosynthesis hsa00514

GO Terms for Bone Fragility with Contractures, Arterial Rupture, and Deafness

Sources for Bone Fragility with Contractures, Arterial Rupture, and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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