WENHY
MCID: HYP299
MIFTS: 43

Hyperostosis, Endosteal (WENHY) malady

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

Aliases & Classifications for Hyperostosis, Endosteal

Aliases & Descriptions for Hyperostosis, Endosteal:

Name: Hyperostosis, Endosteal 54 13
Osteosclerosis 54 12 52 42 14 69
Endosteal Hyperostosis, Worth Type 50 56 66
Worth Syndrome 50 56 66
Autosomal Dominant Osteosclerosis, Worth Type 50 56
Endosteal Hyperostosis, Autosomal Dominant 54 50
Osteosclerosis, Autosomal Dominant 50 52
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 24
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 50
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 66
Osteosclerosis, Autosomal Dominant, Worth Type 50
Endosteal Hyperostosis Autosomal Dominant 66
Osteosclerosis Autosomal Dominant 66
Wenhy 66

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant osteosclerosis, worth type
Inheritance: Autosomal dominant;

HPO:

32
hyperostosis, endosteal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 144750
Disease Ontology 12 DOID:4254
ICD10 33 Q78.2
NCIt 47 C41236
SNOMED-CT 64 49347007
Orphanet 56 ORPHA2790
UMLS via Orphanet 70 C0432273 C2931308
ICD10 via Orphanet 34 Q78.2
MedGen 40 C0432273
UMLS 69 C0029464

Summaries for Hyperostosis, Endosteal

UniProtKB/Swiss-Prot : 66 Endosteal hyperostosis, Worth type: An autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity.

MalaCards based summary : Hyperostosis, Endosteal, also known as osteosclerosis, is related to osteosclerosis with ichthyosis and premature ovarian failure and osteosclerosis abnormalities of nervous system and meninges, and has symptoms including nystagmus, facial palsy and mandibular prognathia. An important gene associated with Hyperostosis, Endosteal is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Ion channel transport and Lysosome. Affiliated tissues include bone and cortex, and related phenotypes are growth/size/body region and craniofacial

Disease Ontology : 12 A bone remodeling disease that results_in abnormal elevated bone density or mass.

Description from OMIM: 144750

Related Diseases for Hyperostosis, Endosteal

Diseases related to Hyperostosis, Endosteal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
id Related Disease Score Top Affiliating Genes
1 osteosclerosis with ichthyosis and premature ovarian failure 11.9
2 osteosclerosis abnormalities of nervous system and meninges 11.8
3 osteosclerosis-developmental delay-craniosynostosis syndrome 11.8
4 osteomesopyknosis 11.6
5 raine syndrome 11.6
6 osteopetrosis 11.5
7 van buchem disease, type 2 11.3
8 melorheostosis 11.0
9 craniofacial dysostosis with diaphyseal hyperplasia 11.0
10 osteopetrosis, autosomal dominant 1 10.9
11 pycnodysostosis 10.8
12 osteopathia striata with cranial sclerosis 10.8
13 worth's syndrome 10.7
14 foix-alajouanine syndrome 10.7
15 achondroplasia 10.7
16 cote katsantoni syndrome 10.7
17 robinow syndrome 10.7
18 craniodiaphyseal dysplasia 10.7
19 osteopetrosis, autosomal recessive 1 10.7
20 axial osteomalacia 10.7
21 robinow syndrome, autosomal dominant 2 10.7
22 buschke-ollendorff syndrome 10.7
23 osteopetrosis, autosomal dominant 2 10.7
24 camurati-engelmann disease 10.7
25 craniometaphyseal dysplasia 10.7
26 hyperostosis cranialis interna 10.7
27 lipodystrophy 10.7
28 phka2-related phosphorylase kinase deficiency 10.3 TNFRSF11B TNFSF11
29 aicardi-goutieres syndrome 2 10.3 CLCN7 TNFSF11
30 birk-barel mental retardation dysmorphism syndrome 10.2 TNFRSF11B TNFSF11
31 familial mediterranean fever, ad 10.2 CLCN7 TNFSF11
32 osteopetrosis, autosomal recessive 7 10.2 TNFRSF11B TNFSF11
33 microcephaly 10, primary, autosomal recessive 10.2 CTSK TNFRSF11B TNFSF11
34 maroteaux stanescu cousin syndrome 10.2 CTSK TNFRSF11B TNFSF11
35 glossitis 10.2 CTSK TNFRSF11B TNFSF11
36 binocular vision disease 10.2 BMP2 TNFSF11
37 hepatic fibrosis renal cysts mental retardation 10.2 TNFRSF11B TNFSF11
38 chromosomal disease 10.2 BMP2 TNFRSF11B TNFSF11
39 classic type lipoma 10.2 BMP2 CTSK TNFSF11
40 hepatitis 10.2
41 14q12 microdeletion syndrome 10.2 CLCN7 TCIRG1 TNFSF11
42 peripheral scars of retina 10.2 TNFRSF11B TNFSF11
43 hepatitis c 10.2
44 epilepsy, idiopathic generalized 14 10.2 OSTM1 TNFRSF11B TNFSF11
45 ceroid lipofuscinosis, neuronal, kufs type, adult onset 10.2 BMP2 TNFRSF11B TNFSF11
46 ichthyosis vulgaris 10.2 CLCN7 CTSK
47 trichodontoosseous syndrome 10.2 CLCN7 PLEKHM1
48 cortical blindness 10.1 CSF1 TNFRSF11B TNFSF11
49 myelofibrosis 10.1
50 bronchus cancer 10.1 BMP2 CTSK TNFRSF11B TNFSF11

Graphical network of the top 20 diseases related to Hyperostosis, Endosteal:



Diseases related to Hyperostosis, Endosteal

Symptoms & Phenotypes for Hyperostosis, Endosteal

Symptoms by clinical synopsis from OMIM:

144750

Clinical features from OMIM:

144750

Human phenotypes related to Hyperostosis, Endosteal:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 Occasional (29-5%) HP:0000639
2 facial palsy 56 32 Occasional (29-5%) HP:0010628
3 mandibular prognathia 56 32 Occasional (29-5%) HP:0000303
4 craniofacial hyperostosis 56 32 Very frequent (99-80%) HP:0004493
5 abnormal cortical bone morphology 56 32 Very frequent (99-80%) HP:0003103
6 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
7 generalized osteosclerosis 56 32 Very frequent (99-80%) HP:0005789
8 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
9 diaphyseal thickening 56 32 Very frequent (99-80%) HP:0005019
10 abnormality of the ribs 56 32 Very frequent (99-80%) HP:0000772
11 vertebral body sclerosis 56 32 Frequent (79-30%) HP:0100861
12 torus palatinus 56 32 Very frequent (99-80%) HP:0100789
13 clavicular sclerosis 56 32 Very frequent (99-80%) HP:0100923
14 dental malocclusion 32 HP:0000689
15 abnormality of pelvic girdle bone morphology 32 HP:0002644
16 thickened cortex of long bones 32 HP:0000935
17 growth abnormality 32 HP:0001507
18 flat forehead 32 HP:0004425
19 metacarpal diaphyseal endosteal sclerosis 32 HP:0006174
20 metatarsal diaphyseal endosteal sclerosis 32 HP:0008114

MGI Mouse Phenotypes related to Hyperostosis, Endosteal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 ANKH BMP2 CA2 CLCN7 CSF1 CTSK
2 craniofacial MP:0005382 10.2 ANKH BMP2 CLCN7 CSF1 CTSK IGF2
3 cellular MP:0005384 10.18 ANKH BMP2 CLCN7 CSF1 CTSK IGF2
4 hematopoietic system MP:0005397 10.18 ANKH BMP2 CLCN7 CSF1 CTSK IGF2
5 homeostasis/metabolism MP:0005376 10.15 TCIRG1 THPO TNFSF11 ANKH BMP2 CA2
6 immune system MP:0005387 10.13 ANKH BMP2 CA2 CLCN7 CSF1 CTSK
7 limbs/digits/tail MP:0005371 10.03 LRP5 OSTM1 PLEKHM1 TCIRG1 TNFRSF11B TNFSF11
8 mortality/aging MP:0010768 9.93 ANKH BMP2 CA2 CLCN7 CSF1 IGF2
9 skeleton MP:0005390 9.44 TNFSF11 ANKH BMP2 CA2 CLCN7 CSF1
10 respiratory system MP:0005388 9.43 IGF2 ANKH CLCN7 CSF1 CTSK TNFSF11

Drugs & Therapeutics for Hyperostosis, Endosteal

Search Clinical Trials , NIH Clinical Center for Hyperostosis, Endosteal

Cochrane evidence based reviews: osteosclerosis

Genetic Tests for Hyperostosis, Endosteal

Genetic tests related to Hyperostosis, Endosteal:

id Genetic test Affiliating Genes
1 Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 24 LRP5

Anatomical Context for Hyperostosis, Endosteal

MalaCards organs/tissues related to Hyperostosis, Endosteal:

39
Bone, Cortex

Publications for Hyperostosis, Endosteal

Variations for Hyperostosis, Endosteal

UniProtKB/Swiss-Prot genetic disease variations for Hyperostosis, Endosteal:

66
id Symbol AA change Variation ID SNP ID
1 LRP5 p.Ala214Thr VAR_021810 rs121908671
2 LRP5 p.Ala214Val VAR_021811 rs121908672
3 LRP5 p.Ala242Thr VAR_021812 rs121908670

ClinVar genetic disease variations for Hyperostosis, Endosteal:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh37 Chromosome 11, 68131252: 68131252
2 LRP5 NM_002335.3(LRP5): c.640G> A (p.Ala214Thr) single nucleotide variant Pathogenic rs121908671 GRCh37 Chromosome 11, 68125269: 68125269
3 LRP5 NM_002335.3(LRP5): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs121908672 GRCh37 Chromosome 11, 68125270: 68125270

Expression for Hyperostosis, Endosteal

Search GEO for disease gene expression data for Hyperostosis, Endosteal.

Pathways for Hyperostosis, Endosteal

Pathways related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 ATP6V0A2 CLCN7 OSTM1 TCIRG1
2 11.67 ATP6V0A2 CTSK TCIRG1
3 11.56 CSF1 CTSK TNFRSF11B TNFSF11
4 11.09 CA2 TNFRSF11B TNFSF11
5 10.98 ATP6V0A2 CSF1 CTSK TCIRG1 TNFSF11
6 10.47 TNFRSF11B TNFSF11
7 10.34 CTSK TNFRSF11B TNFSF11

GO Terms for Hyperostosis, Endosteal

Cellular components related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 BMP2 CA2 CSF1 CTSK IGF2 THPO
2 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.32 ATP6V0A2 TCIRG1
3 proton-transporting V-type ATPase, V0 domain GO:0033179 9.26 ATP6V0A2 TCIRG1
4 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.16 ATP6V0A2 TCIRG1
5 lysosomal membrane GO:0005765 9.02 ATP6V0A2 CLCN7 OSTM1 PLEKHM1 TCIRG1

Biological processes related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.76 ATP6V0A2 CLCN7 OSTM1 TCIRG1
2 positive regulation of protein phosphorylation GO:0001934 9.75 BMP2 IGF2 THPO
3 ossification GO:0001503 9.69 BMP2 IGF2 TNFSF11
4 ATP hydrolysis coupled proton transport GO:0015991 9.59 ATP6V0A2 TCIRG1
5 phagosome acidification GO:0090383 9.58 ATP6V0A2 TCIRG1
6 positive regulation of protein kinase B signaling GO:0051897 9.58 IGF2 THPO TNFSF11
7 positive regulation of mitotic nuclear division GO:0045840 9.57 IGF2 LRP5
8 bone resorption GO:0045453 9.56 CTSK TNFSF11
9 skeletal system development GO:0001501 9.56 ANKH BMP2 IGF2 TNFRSF11B
10 ATP synthesis coupled proton transport GO:0015986 9.55 ATP6V0A2 TCIRG1
11 response to pH GO:0009268 9.54 CA2 CLCN7
12 insulin receptor signaling pathway GO:0008286 9.54 ATP6V0A2 IGF2 TCIRG1
13 positive regulation of bone resorption GO:0045780 9.52 CA2 TNFSF11
14 branching involved in mammary gland duct morphogenesis GO:0060444 9.49 CSF1 LRP5
15 vacuolar acidification GO:0007035 9.48 ATP6V0A2 TCIRG1
16 positive regulation of osteoblast proliferation GO:0033690 9.43 BMP2 LRP5
17 vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 9.32 ATP6V0A2 TCIRG1
18 osteoclast proliferation GO:0002158 9.16 CSF1 TNFSF11
19 osteoclast differentiation GO:0030316 9.13 CSF1 OSTM1 TNFSF11
20 positive regulation of osteoclast differentiation GO:0045672 8.8 CA2 CSF1 TNFSF11

Molecular functions related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 BMP2 CSF1 IGF2 THPO
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.16 ATP6V0A2 TCIRG1
3 cytokine activity GO:0005125 9.02 BMP2 CSF1 THPO TNFRSF11B TNFSF11

Sources for Hyperostosis, Endosteal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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