MCID: DYS045
MIFTS: 28

Dysosteosclerosis

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Dysosteosclerosis

Summaries for Dysosteosclerosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1782Disease definitionDysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.EpidemiologyLess than 30 cases have been reported in the literature to date.Clinical descriptionThe disease is characterized by sclerosis of the skull base, ribs, clavicles, scapulae, mid-diaphyses and increased bone fragility. Patients have a prominent forehead, narrow midface, flattening of the vertebral bodies and dental anomalies. Short stature, optic atrophy, hearing impairment, epilepsy, skin changes, and progressive psychomotor deficit are frequent.EtiologyThe disease is caused by mutations in SLC29A33. This gene encodes a nucleoside transporter. Mutations in this gene may also cause Faisalabad histiocytosis, RosaƔ-Dorfman disease, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (see these terms). Parental consanguinity has been noted in some cases.Genetic counselingDysosteosclerosis is inherited in an autosomal recessive manner, but an X-linkedpedigree has also been reported.PrognosisThe overall prognosis is generally poor.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dysosteosclerosis is related to osteopetrosis and 3-methylglutaconic aciduria, type iii, and has symptoms including seizures An important gene associated with Dysosteosclerosis is SLC29A3 (Solute Carrier Family 29 Member 3). Affiliated tissues include bone, skin and brain, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 Dysosteosclerosis is a rare bone dysplasia associated with neurodevelopmental deterioration. There is sclerosis and platyspondyly with progressive metaphyseal expansion and alteration of bone density. The early craniotubular bone modeling and clinical presentation resemble osteopetrosis (summary by Elcioglu et al., 2002). (224300)

Related Diseases for Dysosteosclerosis

Diseases related to Dysosteosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteopetrosis 10.0
2 3-methylglutaconic aciduria, type iii 9.9
3 osteomyelitis 9.9
4 skeletal dysplasias 9.9

Symptoms & Phenotypes for Dysosteosclerosis

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
prominent forehead
round face
facial paralysis
abducens palsy
more
Neurologic Central Nervous System:
seizures
mental retardation
neurodevelopmental regression

Skeletal Spine:
platyspondyly
small vertebral bodies
irregular endplates
widened intervertebral spaces
dense vertebral bodies
more
Skeletal Pelvis:
narrow iliac wings
widened femoral necks

Skeletal Limbs:
metaphyseal flaring
epimetaphyseal sclerosis
progressive bowing of long bones
radiolucent metaphyses
abnormal metaphyseal trabeculation
more
Head And Neck Mouth:
high-arched palate

Skeletal Skull:
absent paranasal sinuses
skull base sclerosis
periorbital sclerosis
hypoplastic mandible condyle
obliteration of frontal sinuses

Growth Height:
short stature, disproportionate

Skeletal Hands:
sclerotic carpals

Skeletal:
osteopenia
bone fragility

Head And Neck Eyes:
optic atrophy
blindness

Respiratory:
obstructive sleep apnea

Head And Neck Teeth:
oligodontia
delayed tooth eruption
natal teeth
premature tooth loss
poorly calcified teeth

Head And Neck Ears:
deafness

Chest External Features:
narrow thorax

Chest Ribs Sternum Clavicles And Scapulae:
sclerotic ribs
short, widened ribs
sclerotic clavicles
sclerotic scapulae
short, thick sternum

Head And Neck Head:
biparietal bossing
delayed closure of anterior fontanelle

Skin Nails Hair Skin:
red-violet macular atrophy


Clinical features from OMIM:

224300

Human phenotypes related to Dysosteosclerosis:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
6 cerebral calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002514
7 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
8 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
9 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
12 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
13 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
14 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
15 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
16 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
17 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
18 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
19 rough bone trabeculation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100670
20 hypoplastic vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0008479
21 abnormality of the cranial nerves 59 32 hallmark (90%) Very frequent (99-80%) HP:0001291
22 irregular vertebral endplates 59 32 hallmark (90%) Very frequent (99-80%) HP:0003301
23 frontal bossing 32 HP:0002007
24 high palate 32 HP:0000218
25 osteopenia 32 HP:0000938
26 seizures 32 HP:0001250
27 blindness 32 HP:0000618
28 prominent forehead 32 HP:0011220
29 micrognathia 32 HP:0000347
30 broad ribs 32 HP:0000885
31 narrow chest 32 HP:0000774
32 diaphyseal thickening 32 HP:0005019
33 short sternum 32 HP:0000879
34 round face 32 HP:0000311
35 obstructive sleep apnea 32 HP:0002870
36 narrow iliac wings 32 HP:0002868
37 disproportionate short stature 32 HP:0003498
38 increased susceptibility to fractures 32 HP:0002659
39 oligodontia 32 HP:0000677
40 natal tooth 32 HP:0000695
41 dermal atrophy 32 HP:0004334
42 short ribs 32 HP:0000773
43 broad femoral neck 32 HP:0006429
44 flared metaphysis 32 HP:0003015
45 delayed closure of the anterior fontanelle 32 HP:0001476
46 clavicular sclerosis 32 HP:0100923
47 absent frontal sinuses 32 HP:0002688
48 facial paralysis 32 HP:0007209
49 sclerosis of skull base 32 HP:0002694
50 sclerosis of hand bone 32 HP:0004054

UMLS symptoms related to Dysosteosclerosis:


seizures

Drugs & Therapeutics for Dysosteosclerosis

Search Clinical Trials , NIH Clinical Center for Dysosteosclerosis

Genetic Tests for Dysosteosclerosis

Anatomical Context for Dysosteosclerosis

MalaCards organs/tissues related to Dysosteosclerosis:

41
Bone, Skin, Brain

Publications for Dysosteosclerosis

Articles related to Dysosteosclerosis:

(show all 17)
# Title Authors Year
1
Dysosteosclerosis is also caused by TNFRSF11A mutation. ( 29568001 )
2018
2
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. ( 22875837 )
2012
3
A case report of dysosteosclerosis observed from the prenatal period. ( 23926380 )
2010
4
Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review. ( 20499338 )
2010
5
Clinical and radiologic findings in an adult male with dysosteosclerosis. ( 18203158 )
2008
6
Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base. ( 18651947 )
2008
7
Dysosteosclerosis: a report of three new cases and evolution of the radiological findings. ( 12161605 )
2002
8
Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth. ( 10551137 )
1999
9
Dysosteosclerosis: clinicoradiologic findings including brain MRI. ( 9690010 )
1997
10
Dysosteosclerosis. ( 8826749 )
1996
11
Case report: dysosteosclerosis: a unique entity. ( 8605757 )
1996
12
Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis. ( 1605243 )
1992
13
Osteomyelitis of the mandible in a patient with dysosteosclerosis. Report of a case. ( 2003007 )
1991
14
Dysosteosclerosis in a mentally retarded boy. ( 7405588 )
1980
15
Dysosteosclerosis. ( 417609 )
1978
16
X-linked dysosteosclerosis. Four familial cases. ( 562263 )
1977
17
Dysosteosclerosis. ( 1201343 )
1975

Variations for Dysosteosclerosis

Expression for Dysosteosclerosis

Search GEO for disease gene expression data for Dysosteosclerosis.

Pathways for Dysosteosclerosis

GO Terms for Dysosteosclerosis

Sources for Dysosteosclerosis

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
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