MCID: DYS045
MIFTS: 37

Dysosteosclerosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysosteosclerosis

MalaCards integrated aliases for Dysosteosclerosis:

Name: Dysosteosclerosis 57 73 20 58 70

Characteristics:

Orphanet epidemiological data:

58
dysosteosclerosis
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
dysosteosclerosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Dysosteosclerosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1782 Definition Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. Epidemiology Less than 30 cases have been reported in the literature to date. Clinical description The 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. Etiology The disease is caused by mutations in SLC29A33. This gene encodes a nucleoside transporter. Mutations in this gene may also cause Faisalabad histiocytosis, RosaO-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 counseling Dysosteosclerosis is inherited in an autosomal recessive manner, but an X-linked pedigree has also been reported. Prognosis The overall prognosis is generally poor.

MalaCards based summary : Dysosteosclerosis is related to osteopetrosis, autosomal recessive 7 and bone disease, and has symptoms including seizures An important gene associated with Dysosteosclerosis is TNFRSF11A (TNF Receptor Superfamily Member 11a), and among its related pathways/superpathways are Osteoclast differentiation and Rheumatoid arthritis. Affiliated tissues include bone and brain, and related phenotypes are macrocephaly and intellectual disability

Wikipedia : 73 Dysosteosclerosis (DSS), also known as autosomal recessive dysosteosclerosis or X-linked recessive... more...

More information from OMIM: 224300

Related Diseases for Dysosteosclerosis

Graphical network of the top 20 diseases related to Dysosteosclerosis:



Diseases related to Dysosteosclerosis

Symptoms & Phenotypes for Dysosteosclerosis

Human phenotypes related to Dysosteosclerosis:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
4 cerebral calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002514
5 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
6 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
7 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
8 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
9 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
10 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
12 abnormal cranial nerve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001291
13 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
14 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
15 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
16 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
17 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
18 hypoplastic vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0008479
19 irregular vertebral endplates 58 31 hallmark (90%) Very frequent (99-80%) HP:0003301
20 coarse metaphyseal trabecularization 31 hallmark (90%) HP:0100670
21 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
22 frontal bossing 31 HP:0002007
23 high palate 31 HP:0000218
24 osteopenia 31 HP:0000938
25 blindness 31 HP:0000618
26 prominent forehead 31 HP:0011220
27 broad ribs 31 HP:0000885
28 abnormality of the metaphysis 58 Very frequent (99-80%)
29 diaphyseal thickening 31 HP:0005019
30 short sternum 31 HP:0000879
31 micrognathia 31 HP:0000347
32 narrow chest 31 HP:0000774
33 round face 31 HP:0000311
34 narrow iliac wings 31 HP:0002868
35 rough bone trabeculation 58 Very frequent (99-80%)
36 disproportionate short stature 31 HP:0003498
37 increased susceptibility to fractures 31 HP:0002659
38 obstructive sleep apnea 31 HP:0002870
39 oligodontia 31 HP:0000677
40 premature loss of teeth 31 HP:0006480
41 absent frontal sinuses 31 HP:0002688
42 short ribs 31 HP:0000773
43 dermal atrophy 31 HP:0004334
44 broad femoral neck 31 HP:0006429
45 natal tooth 31 HP:0000695
46 clavicular sclerosis 31 HP:0100923
47 abducens palsy 31 HP:0011349
48 delayed closure of the anterior fontanelle 31 HP:0001476
49 flared metaphysis 31 HP:0003015
50 facial paralysis 31 HP:0007209

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
mental retardation
neurodevelopmental regression

Skeletal:
osteopenia
bone fragility

Skeletal Spine:
platyspondyly
small vertebral bodies
irregular endplates
widened intervertebral spaces
dense vertebral bodies
more
Respiratory:
obstructive sleep apnea

Skeletal Limbs:
progressive bowing of long bones
abnormal metaphyseal trabeculation
metaphyseal flaring
epimetaphyseal sclerosis
radiolucent metaphyses
more
Chest Ribs Sternum Clavicles And Scapulae:
sclerotic scapulae
sclerotic ribs
short, widened ribs
sclerotic clavicles
short, thick sternum

Head And Neck Mouth:
high-arched palate

Growth Height:
short stature, disproportionate

Skeletal Hands:
sclerotic carpals

Head And Neck Face:
frontal bossing
prominent forehead
round face
abducens palsy
facial paralysis
more
Head And Neck Eyes:
optic atrophy
blindness

Skeletal Pelvis:
narrow iliac wings
widened femoral necks

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

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

Head And Neck Ears:
deafness

Chest External Features:
narrow thorax

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

Skin Nails Hair Skin:
red-violet macular atrophy

Clinical features from OMIM®:

224300 (Updated 05-Apr-2021)

UMLS symptoms related to Dysosteosclerosis:


seizures

MGI Mouse Phenotypes related to Dysosteosclerosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.67 CSF1R SLC29A3 TCIRG1 TNFRSF11A
2 hematopoietic system MP:0005397 9.56 CSF1R SLC29A3 TCIRG1 TNFRSF11A
3 craniofacial MP:0005382 9.5 CSF1R TCIRG1 TNFRSF11A
4 immune system MP:0005387 9.46 CSF1R SLC29A3 TCIRG1 TNFRSF11A
5 limbs/digits/tail MP:0005371 9.13 CSF1R TCIRG1 TNFRSF11A
6 no phenotypic analysis MP:0003012 8.8 CSF1R TCIRG1 TNFRSF11A

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:

40
Bone, Brain

Publications for Dysosteosclerosis

Articles related to Dysosteosclerosis:

(show all 36)
# Title Authors PMID Year
1
Clinical and radiologic findings in an adult male with dysosteosclerosis. 61 57
18203158 2008
2
Dysosteosclerosis. 61 57
417609 1978
3
[Dysosteosclerosis--a special form of generalized osteosclerosis]. 61 57
5750745 1968
4
Albers-Schönberg Disease. An Atypical Case. 57
19991797 1939
5
Osteopetrosis: (Section for the Study of Disease in Children). 57
19989973 1934
6
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins. 61
33037392 2021
7
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features. 61
33749994 2021
8
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. 61
33402699 2021
9
Genetic disorders associated with the RANKL/OPG/RANK pathway. 61
32940787 2021
10
Letter to the Editor: Dysosteosclerosis related to the unique mutation in SLC29A3. 61
31487548 2019
11
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. 61
31163101 2019
12
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature. 61
31464584 2019
13
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 61
30982609 2019
14
Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. 61
30537558 2019
15
Dysosteosclerosis is also caused by TNFRSF11A mutation. 61
29568001 2018
16
[Osteomyelitis of the mandible and dysosteosclerosis]. 61
26404894 2015
17
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. 61
22875837 2012
18
Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review. 61
20499338 2010
19
A case report of dysosteosclerosis observed from the prenatal period. 61
23926380 2010
20
The Erlenmeyer flask bone deformity in the skeletal dysplasias. 61
19444897 2009
21
Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature. 61
19203363 2009
22
Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base. 61
18651947 2008
23
Dysosteosclerosis: a report of three new cases and evolution of the radiological findings. 61
12161605 2002
24
[Dysosteosclerosis]. 61
11462584 2001
25
Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth. 61
10551137 1999
26
Dysosteosclerosis: clinicoradiologic findings including brain MRI. 61
9690010 1997
27
Dysosteosclerosis. 61
8826749 1996
28
Case report: dysosteosclerosis: a unique entity. 61
8605757 1996
29
Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis. 61
1605243 1992
30
Osteomyelitis of the mandible in a patient with dysosteosclerosis. Report of a case. 61
2003007 1991
31
Sclerosing bone dysplasias--a target-site approach. 61
1776023 1991
32
[Rhinoliquorrhea in a case of dysosteosclerosis with sclerosis of the aqueduct of Sylvius]. 61
2667417 1989
33
Dysosteosclerosis in a mentally retarded boy. 61
7405588 1980
34
X-linked dysosteosclerosis. Four familial cases. 61
562263 1977
35
Dysosteosclerosis. 61
1201343 1975
36
[Manifestation of dysosteosclerosis in the region of the jaw]. 61
5262270 1970

Variations for Dysosteosclerosis

Expression for Dysosteosclerosis

Search GEO for disease gene expression data for Dysosteosclerosis.

Pathways for Dysosteosclerosis

Pathways related to Dysosteosclerosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.06 TNFRSF11A CSF1R
2 10.59 TNFRSF11A TCIRG1

GO Terms for Dysosteosclerosis

Biological processes related to Dysosteosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.43 TNFRSF11A TCIRG1 CSF1R
2 ossification GO:0001503 9.32 TNFRSF11A TCIRG1
3 cellular response to cytokine stimulus GO:0071345 9.16 TCIRG1 CSF1R
4 ruffle organization GO:0031529 8.96 TCIRG1 CSF1R
5 osteoclast differentiation GO:0030316 8.8 TNFRSF11A TCIRG1 CSF1R

Molecular functions related to Dysosteosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 8.62 TNFRSF11A CSF1R

Sources for Dysosteosclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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