Connective tissue disorder due to lysyl hydroxylase-3 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LYSYL HYDROXYLASE 3 DEFICIENCY
LH3 DEFICIENCY
Connective tissue disorder due to LH3 deficiency
Bone fragility-contractures-arterial rupture-deafness syndrome
Number of Symptoms 48
OrphanetNr: 300284
OMIM Id: 612394
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Malformation syndrome with connective tissue involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic systemic or rheumatologic disease
 -Rare genetic disease
Rare systemic disease
 -Rare systemic or rheumatologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012368) Flat face 106 / 7739
2
 (HPO:0000343) Long philtrum 262 / 7739
3
 (HPO:0000272) Malar flattening 277 / 7739
4
 (HPO:0002680) J-shaped sella turcica 15 / 7739
5
 (HPO:0002714) Downturned corners of mouth 98 / 7739
6
 (HPO:0000463) Anteverted nares 305 / 7739
7
 (HPO:0000586) Shallow orbits 23 / 7739
8
 (HPO:0003196) Short nose 264 / 7739
9
 (HPO:0000518) Cataract 454 / 7739
10
 (HPO:0000545) Myopia 286 / 7739
11
 (HPO:0000377) Abnormality of the pinna 111 / 7739
12
 (HPO:0000365) Hearing impairment 539 / 7739
13
 (HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
14
 (HPO:0000369) Low-set ears 372 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0002650) Scoliosis 705 / 7739
17
 (HPO:0001762) Talipes equinovarus 309 / 7739
18
 (HPO:0000926) Platyspondyly 150 / 7739
19
 (HPO:0002987) Elbow flexion contracture 64 / 7739
20
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
21
 (HPO:0000938) Osteopenia 138 / 7739
22
 (HPO:0002756) Pathologic fracture 30 / 7739
23
 (HPO:0006184) Decreased palmar creases 5 / 7739
24
 (HPO:0003393) Thenar muscle atrophy 10 / 7739
25
 (HPO:0001371) Flexion contracture 220 / 7739
26
 (HPO:0009110) Diaphragmatic eventration 8 / 7739
27
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
28
 (HPO:0008897) Postnatal growth retardation 113 / 7739
29
 (HPO:0002164) Nail dysplasia 82 / 7739
30
 (HPO:0000978) Bruising susceptibility 123 / 7739
31
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
32
 (HPO:0200037) Skin vesicle 102 / 7739
33
 (HPO:0002208) Coarse hair 58 / 7739
34
 (HPO:0004944) Cerebral aneurysm 12 / 7739
35
 (HPO:0005294) Arterial dissection 8 / 7739
36
 (OMIM) Prominent knees 1 / 7739
37
 (OMIM) Reduced muscle mass 4 / 7739
38
 (OMIM) Flat facial profile 6 / 7739
39
 (OMIM) Hypothenar muscle atrophy 2 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (OMIM) Birth weight below 0.3 percentile 1 / 7739
42
 (OMIM) Birth length below 0.3 percentile 1 / 7739
43
 (OMIM) Normal teeth 15 / 7739
44
 (OMIM) Decreased serum glucosyltransferase (GGT) activity 1 / 7739
45
 (OMIM) Abnormal urinary collagen-derived pyridinium crosslinks (absent Glc-Gal-PYD) 1 / 7739
46
 (OMIM) Popliteal aneurysm 1 / 7739
47
 (OMIM) Cerebral arterial hemorrhage 1 / 7739
48
 (OMIM) Small odontoid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Salo et al. (2008) described a female proband with a novel connective tissue disorder secondary to lysyl hydroxylase-3 (LH3) deficiency. The patient was born to a nonconsanguineous couple of European descent. Pregnancy was complicated by intrauterine growth retardation. ...
Molecular genetics OMIM By analysis of LH3 cDNA in a patient with a connective tissue disorder and lysyl hydroxylase-3 deficiency, Salo et al. (2008) identified compound heterozygosity for 2 mutations: an asn223-to-ser (N223S) missense mutation (603066.0001) and a 1-bp deletion (2071delT; ...