WENHY
MCID: HYP299
MIFTS: 43

Hyperostosis, Endosteal (WENHY) malady

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

Aliases & Classifications for Hyperostosis, Endosteal

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hyperostosis, Endosteal:

Name: Hyperostosis, Endosteal 52 12
Osteosclerosis 52 11 50 39 13 68
Endosteal Hyperostosis, Worth Type 48 54 70
Worth Syndrome 48 54 70
Autosomal Dominant Osteosclerosis, Worth Type 48 54
Endosteal Hyperostosis, Autosomal Dominant 52 48
Osteosclerosis, Autosomal Dominant 48 50
 
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 24
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 48
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 70
Osteosclerosis, Autosomal Dominant, Worth Type 48
Endosteal Hyperostosis Autosomal Dominant 70
Osteosclerosis Autosomal Dominant 70
Wenhy 70

Characteristics:

Orphanet epidemiological data:

54
endosteal hyperostosis, worth type:
Inheritance: Autosomal dominant

HPO:

64
hyperostosis, endosteal:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 144750
Disease Ontology11 DOID:4254
ICD1030 Q78.2
NCIt45 C41236
SNOMED-CT62 49347007
Orphanet54 ORPHA2790
UMLS via Orphanet69 C0432273, C2931308
ICD10 via Orphanet31 Q78.2
MedGen37 C0432273

Summaries for Hyperostosis, Endosteal

About this section
UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Hyperostosis, Endosteal is LRP5 (LDL Receptor Related Protein 5), and among its related pathways are Osteoblast Signaling and Osteoclast Signaling. Affiliated tissues include bone and cortex, and related mouse phenotypes are respiratory system and cellular.

Disease Ontology:11 A bone remodeling disease that results in abnormal elevated bone density or mass.

Description from OMIM:52 144750

Related Diseases for Hyperostosis, Endosteal

About this section

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

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1osteosclerosis with ichthyosis and premature ovarian failure11.9
2osteosclerosis abnormalities of nervous system and meninges11.8
3osteosclerosis-developmental delay-craniosynostosis syndrome11.8
4osteomesopyknosis11.6
5raine syndrome11.6
6osteopetrosis11.5
7van buchem disease, type 211.3
8melorheostosis11.0
9craniofacial dysostosis with diaphyseal hyperplasia11.0
10osteopetrosis, autosomal dominant 110.9
11pycnodysostosis10.8
12osteopathia striata with cranial sclerosis10.8
13achondroplasia10.7
14worth's syndrome10.7
15cote katsantoni syndrome10.7
16foix-alajouanine syndrome10.7
17robinow syndrome, autosomal dominant 210.7
18craniometaphyseal dysplasia10.7
19osteopetrosis, autosomal recessive 110.7
20buschke-ollendorff syndrome10.7
21osteopetrosis, autosomal dominant 210.7
22camurati-engelmann disease10.7
23hyperostosis cranialis interna10.7
24robinow syndrome10.7
25craniodiaphyseal dysplasia10.7
26axial osteomalacia10.7
27lipodystrophy10.7
28phka2-related phosphorylase kinase deficiency10.3TNFRSF11B, TNFSF11
29aicardi-goutieres syndrome 210.3CLCN7, TNFSF11
30birk-barel mental retardation dysmorphism syndrome10.2TNFRSF11B, TNFSF11
31familial mediterranean fever, ad10.2CLCN7, TNFSF11
32osteopetrosis, autosomal recessive 710.2TNFRSF11B, TNFSF11
33microcephaly 10, primary, autosomal recessive10.2CTSK, TNFRSF11B, TNFSF11
34maroteaux stanescu cousin syndrome10.2CTSK, TNFRSF11B, TNFSF11
35glossitis10.2CTSK, TNFRSF11B, TNFSF11
36binocular vision disease10.2BMP2, TNFSF11
37hepatic fibrosis renal cysts mental retardation10.2TNFRSF11B, TNFSF11
38chromosomal disease10.2BMP2, TNFRSF11B, TNFSF11
39classic type lipoma10.2BMP2, CTSK, TNFSF11
40hepatitis10.2
4114q12 microdeletion syndrome10.2CLCN7, TCIRG1, TNFSF11
42peripheral scars of retina10.2TNFRSF11B, TNFSF11
43hepatitis c10.2
44epilepsy, idiopathic generalized 1410.2OSTM1, TNFRSF11B, TNFSF11
45ceroid lipofuscinosis, neuronal, kufs type, adult onset10.2BMP2, TNFRSF11B, TNFSF11
46ichthyosis vulgaris10.2CLCN7, CTSK
47trichodontoosseous syndrome10.2CLCN7, PLEKHM1
48cortical blindness10.1CSF1, TNFRSF11B, TNFSF11
49myelofibrosis10.1
50bronchus cancer10.1BMP2, CTSK, TNFRSF11B, TNFSF11

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



Diseases related to hyperostosis, endosteal

Symptoms & Phenotypes for Hyperostosis, Endosteal

About this section

Symptoms by clinical synopsis from OMIM:

144750

Clinical features from OMIM:

144750

Human phenotypes related to Hyperostosis, Endosteal:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia64 54 Occasional (29-5%) HP:0000303
2 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
3 nystagmus64 54 Occasional (29-5%) HP:0000639
4 abnormality of the ribs64 54 Very frequent (99-80%) HP:0000772
5 abnormal cortical bone morphology64 54 Very frequent (99-80%) HP:0003103
6 abnormal form of the vertebral bodies64 54 Frequent (79-30%) HP:0003312
7 craniofacial hyperostosis64 54 Very frequent (99-80%) HP:0004493
8 diaphyseal thickening64 54 Very frequent (99-80%) HP:0005019
9 generalized osteosclerosis64 54 Very frequent (99-80%) HP:0005789
10 facial palsy64 54 Occasional (29-5%) HP:0010628
11 torus palatinus64 54 Very frequent (99-80%) HP:0100789
12 vertebral body sclerosis64 54 Frequent (79-30%) HP:0100861
13 clavicular sclerosis64 54 Very frequent (99-80%) HP:0100923
14 dental malocclusion64 HP:0000689
15 thickened cortex of long bones64 HP:0000935
16 growth abnormality64 HP:0001507
17 abnormality of pelvic girdle bone morphology64 HP:0002644
18 flat forehead64 HP:0004425
19 metacarpal diaphyseal endosteal sclerosis64 HP:0006174
20 metatarsal diaphyseal endosteal sclerosis64 HP:0008114

MGI Mouse Phenotypes related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8ANKH, CLCN7, CSF1, CTSK, IGF2, TNFSF11
2MP:00053847.7ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
3MP:00053827.4ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
4MP:00053977.1ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
5MP:00053786.9ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
6MP:00053766.9ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
7MP:00053716.9ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
8MP:00107686.7ANKH, BMP2, CA2, CLCN7, CSF1, IGF2
9MP:00053876.6ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
10MP:00053905.5ANKH, BMP2, CA2, CLCN7, CSF1, CTSK

Drugs & Therapeutics for Hyperostosis, Endosteal

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperostosis, Endosteal


Cochrane evidence based reviews: osteosclerosis

Genetic Tests for Hyperostosis, Endosteal

About this section

Genetic tests related to Hyperostosis, Endosteal:

id Genetic test Affiliating Genes
1 Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus24 LRP5

Anatomical Context for Hyperostosis, Endosteal

About this section

MalaCards organs/tissues related to Hyperostosis, Endosteal:

36
Bone, Cortex

Publications for Hyperostosis, Endosteal

About this section

Variations for Hyperostosis, Endosteal

About this section

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

70
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala214ThrVAR_021810rs121908671
2LRP5p.Ala214ValVAR_021811rs121908672
3LRP5p.Ala242ThrVAR_021812rs121908670

Clinvar genetic disease variations for Hyperostosis, Endosteal:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LRP5NM_ 002335.3(LRP5): c.724G> A (p.Ala242Thr)SNVPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252
2LRP5NM_ 002335.3(LRP5): c.640G> A (p.Ala214Thr)SNVPathogenicrs121908671GRCh37Chr 11, 68125269: 68125269
3LRP5NM_ 002335.3(LRP5): c.641C> T (p.Ala214Val)SNVPathogenicrs121908672GRCh37Chr 11, 68125270: 68125270

Expression for genes affiliated with Hyperostosis, Endosteal

About this section
Search GEO for disease gene expression data for Hyperostosis, Endosteal.

Pathways for genes affiliated with Hyperostosis, Endosteal

About this section

GO Terms for genes affiliated with Hyperostosis, Endosteal

About this section

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

idNameGO IDScoreTop Affiliating Genes
1proton-transporting V-type ATPase, V0 domainGO:00331799.9ATP6V0A2, TCIRG1
2vacuolar proton-transporting V-type ATPase complexGO:00164719.7ATP6V0A2, TCIRG1
3vacuolar proton-transporting V-type ATPase, V0 domainGO:00002209.5ATP6V0A2, TCIRG1
4lysosomal membraneGO:00057658.7ATP6V0A2, CLCN7, OSTM1, PLEKHM1, TCIRG1
5extracellular spaceGO:00056158.4BMP2, CA2, CSF1, CTSK, IGF2, THPO

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:004545310.7CTSK, TNFSF11
2positive regulation of osteoblast proliferationGO:003369010.6BMP2, LRP5
3branching involved in mammary gland duct morphogenesisGO:006044410.5CSF1, LRP5
4positive regulation of mitotic nuclear divisionGO:004584010.5IGF2, LRP5
5osteoclast proliferationGO:000215810.4CSF1, TNFSF11
6positive regulation of bone resorptionGO:004578010.4CA2, TNFSF11
7ATP hydrolysis coupled proton transportGO:001599110.2ATP6V0A2, TCIRG1
8ATP synthesis coupled proton transportGO:001598610.2ATP6V0A2, TCIRG1
9response to pHGO:000926810.2CA2, CLCN7
10ossificationGO:000150310.2BMP2, IGF2, TNFSF11
11phagosome acidificationGO:009038310.2ATP6V0A2, TCIRG1
12positive regulation of protein kinase B signalingGO:005189710.2IGF2, THPO, TNFSF11
13positive regulation of protein phosphorylationGO:000193410.1BMP2, IGF2, THPO
14osteoclast differentiationGO:003031610.1CSF1, OSTM1, TNFSF11
15positive regulation of osteoclast differentiationGO:00456729.9CA2, CSF1, TNFSF11
16insulin receptor signaling pathwayGO:00082869.8ATP6V0A2, IGF2, TCIRG1
17vacuolar acidificationGO:00070359.8ATP6V0A2, TCIRG1
18vacuolar proton-transporting V-type ATPase complex assemblyGO:00700729.5ATP6V0A2, TCIRG1
19ion transmembrane transportGO:00342209.5ATP6V0A2, CLCN7, OSTM1, TCIRG1
20skeletal system developmentGO:00015019.1ANKH, BMP2, IGF2, TNFRSF11B

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.5BMP2, CSF1, THPO, TNFRSF11B, TNFSF11
2proton-transporting ATPase activity, rotational mechanismGO:00469619.5ATP6V0A2, TCIRG1
3growth factor activityGO:00080839.4BMP2, CSF1, IGF2, THPO

Sources for Hyperostosis, Endosteal

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet