Familial Expansile Osteolysis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Familial Expansile Osteolysis

MalaCards integrated aliases for Familial Expansile Osteolysis:

Name: Familial Expansile Osteolysis ⁵⁷ ⁵³ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ⁵⁵ ⁶

Osteolysis, Familial Expansile ⁵⁷ ⁵³ ¹³ ⁴⁰

Mccabe Disease ⁵⁷ ⁵³ ⁵⁹

Feo ⁵⁷ ⁵³ ⁷⁵

Polyostotic Osteolytic Dysplasia, Hereditary Expansile ⁵⁷ ⁵³

Expansile Osteolysis, Familial ⁵⁷ ⁵³

Hepod ⁵⁷ ⁵³

Eof ⁵⁷ ⁵³

Polyostotic Osteolytic Dysplasia, Hereditary Expansile; Hepod ⁵⁷

Hereditary Expansile Polyostotic Osteolytic Dysplasia ⁵⁹

Expansile Osteolysis, Familial; Eof ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁹

familial expansile osteolysis
Inheritance: Autosomal dominant;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset of bone disease in second decade (range 18-44 years)
onset of hearing loss in childhood

HPO:

³²

familial expansile osteolysis:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the musculoskeletal system and connective tissue

Other osteopathies

Other disorders of bone

Osteolysis

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 174810

Orphanet ⁵⁹ ORPHA85195

MESH via Orphanet ⁴⁵ C536335

UMLS via Orphanet ⁷⁴ C0432292

ICD10 via Orphanet ³⁴ M89.5

MedGen ⁴² C0432292

KEGG ³⁷ H02042

SNOMED-CT via HPO ⁶⁹ 263681008 44057004 12584003 more

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Summaries for Familial Expansile Osteolysis

OMIM : ⁵⁷ Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007). (174810)

MalaCards based summary : Familial Expansile Osteolysis, also known as osteolysis, familial expansile, is related to gastric cancer and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Familial Expansile Osteolysis is TNFRSF11A (TNF Receptor Superfamily Member 11a), and among its related pathways/superpathways are NF-kappa B signaling pathway and Osteoclast differentiation. Affiliated tissues include bone and cortex, and related phenotypes are bowing of the long bones and pathologic fracture

UniProtKB/Swiss-Prot : ⁷⁵ Familial expansile osteolysis: Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition.

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Related Diseases for Familial Expansile Osteolysis

Diseases related to Familial Expansile Osteolysis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)

#	Related Disease	Score	Top Affiliating Genes
1	gastric cancer	10.3
2	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
3	osteogenic sarcoma	10.1
4	sarcoma	10.1
5	breast leiomyosarcoma	10.0	TNFRSF11A TNFSF11
6	osteopetrosis, autosomal recessive 7	10.0	TNFRSF11A TNFSF11
7	triiodothyronine receptor auxiliary protein	10.0
8	granulomatosis with polyangiitis	10.0
9	bubonic plague	10.0
10	plague	10.0
11	otitis externa	10.0
12	osteopetrosis	10.0	TNFRSF11A TNFSF11
13	arthropathy	10.0	TNFRSF11B TNFSF11
14	periodontitis	10.0	TNFRSF11B TNFSF11
15	osteopetrosis, autosomal recessive 2	10.0	TNFRSF11A TNFSF11
16	aneurysmal bone cysts	10.0	TNFRSF11A TNFSF11
17	multicentric reticulohistiocytosis	10.0	TNFRSF11B TNFSF11
18	kummell's disease	10.0	TNFRSF11B TNFSF11
19	periodontitis, chronic	10.0	TNFRSF11B TNFSF11
20	chronic apical periodontitis	10.0	TNFRSF11B TNFSF11
21	glucocorticoid-induced osteoporosis	10.0	TNFRSF11B TNFSF11
22	endosteal hyperostosis, autosomal dominant	10.0	TNFRSF11B TNFSF11
23	osteonecrosis	9.9	TNFRSF11B TNFSF11
24	bone cancer	9.9	TNFRSF11A TNFSF11
25	bone inflammation disease	9.9	TNFRSF11B TNFSF11
26	paget disease of bone 2, early-onset	9.9	SQSTM1 TNFRSF11A
27	aortic valve disease 2	9.9	TNFRSF11B TNFSF11
28	periostitis	9.9	SQSTM1 TNFRSF11A
29	synovitis	9.9	TNFRSF11B TNFSF11
30	polyarticular onset juvenile idiopathic arthritis	9.8	TNFSF11 TNFRSF11B TNFRSF11A
31	psoriatic arthritis	9.8	TNFRSF11B TNFSF11
32	hemophilic arthropathy	9.8	TNFSF11 TNFRSF11B TNFRSF11A
33	paget disease of bone 5, juvenile-onset	9.8	TNFSF11 TNFRSF11B TNFRSF11A
34	periapical periodontitis	9.8	TNFSF11 TNFRSF11B TNFRSF11A
35	multicentric carpotarsal osteolysis syndrome	9.8	TNFSF11 TNFRSF11B TNFRSF11A
36	tooth resorption	9.8	TNFSF11 TNFRSF11B TNFRSF11A
37	ischemic bone disease	9.8	TNFSF11 TNFRSF11B TNFRSF11A
38	bone disease	9.8	TNFRSF11A TNFRSF11B TNFSF11
39	root resorption	9.8	TNFSF11 TNFRSF11B TNFRSF11A
40	bone resorption disease	9.8	TNFRSF11A TNFRSF11B TNFSF11
41	bone remodeling disease	9.8	TNFRSF11A TNFRSF11B TNFSF11
42	giant cell tumor	9.8	TNFRSF11A TNFRSF11B TNFSF11
43	periodontal disease	9.8	TNFRSF11A TNFRSF11B TNFSF11
44	breast adenocarcinoma	9.8	SQSTM1 TNFSF11
45	osteoporosis	9.8	TNFRSF11A TNFRSF11B TNFSF11
46	myeloma, multiple	9.8	TNFRSF11B TNFSF11
47	rheumatoid arthritis	9.7	TNFRSF11A TNFRSF11B TNFSF11
48	paget's disease of bone	9.5	TNFSF11 TNFRSF11B TNFRSF11A SQSTM1

Graphical network of the top 20 diseases related to Familial Expansile Osteolysis:

Sources

Symptoms & Phenotypes for Familial Expansile Osteolysis

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Limbs:
bowing of the long bones
abnormal modeling, onset before focal disease (humerus, radius, ulna, tibia)
coarse 'fish net' bone trabeculae, onset before focal disease
rounded areas of trabecular loss (juxta-articular, metaphyseal, diaphyseal, early stage)
enlargement of affected area (intermediate stage)
more

Head And Neck Ears:
hearing loss, initially conductive, later mixed conductive-sensorineural
absence of middle ear ossicles (in some patients)

Laboratory Abnormalities:
elevated serum alkaline phosphatase
elevated urinary hydroxyproline

Skeletal:
pathologic fractures
severe bone pain
osteolytic lesions mainly affecting the appendicular skeleton
multinuclear osteoclasts
medullary expansion
more

Head And Neck Teeth:
resorption of cervical region of the teeth
progressive tooth mobility
spontaneous tooth fracture
early loss of dentition

Clinical features from OMIM:

174810

Human phenotypes related to Familial Expansile Osteolysis:

³² (show all 10)

#	Description	HPO Source Accession
1	bowing of the long bones ³²	HP:0006487
2	pathologic fracture ³²	HP:0002756
3	conductive hearing impairment ³²	HP:0000405
4	bone pain ³²	HP:0002653
5	osteolysis ³²	HP:0002797
6	elevated alkaline phosphatase ³²	HP:0003155
7	thin bony cortex ³²	HP:0002753
8	fragile teeth ³²	HP:0025124
9	premature loss of teeth ³²	HP:0006480
10	hydroxyprolinuria ³²	HP:0003080

MGI Mouse Phenotypes related to Familial Expansile Osteolysis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.56	SQSTM1 TNFRSF11A TNFRSF11B TNFSF11
2	craniofacial	MP:0005382	9.5	TNFRSF11A TNFRSF11B TNFSF11
3	immune system	MP:0005387	9.46	SQSTM1 TNFRSF11A TNFRSF11B TNFSF11
4	limbs/digits/tail	MP:0005371	9.13	TNFRSF11A TNFRSF11B TNFSF11
5	skeleton	MP:0005390	8.92	SQSTM1 TNFRSF11A TNFRSF11B TNFSF11

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Drugs & Therapeutics for Familial Expansile Osteolysis

Search Clinical Trials , NIH Clinical Center for Familial Expansile Osteolysis

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Genetic Tests for Familial Expansile Osteolysis

Genetic tests related to Familial Expansile Osteolysis:

#	Genetic test	Affiliating Genes
1	Familial Expansile Osteolysis ²⁹	TNFRSF11A

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Anatomical Context for Familial Expansile Osteolysis

MalaCards organs/tissues related to Familial Expansile Osteolysis:

⁴¹

Bone, Cortex

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Publications for Familial Expansile Osteolysis

Articles related to Familial Expansile Osteolysis:

(show all 18)

#	Title	Authors	Year
1	Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic. ( 27258166 )	Topham D.G....Sampson M.J.	2016
2	Osteogenic sarcoma in a child with familial expansile osteolysis syndrome: an accidental association? ( 20168251 )	Bacri D....Postovsky S.	2010
3	Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders. ( 18328984 )		2008
4	Familial expansile osteolysis--not exclusively an adult disorder. ( 16470392 )	Marik I....Kozlowski K.	2006
5	Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis. ( 15793411 )	Daneshi A....Farhang F.	2005
6	Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis. ( 12568416 )		2003
7	Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred. ( 11889411 )	Whyte M.P....Mills B.G.	2002
8	Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. ( 11771666 )	Whyte M.P....Hughes A.E.	2002
9	Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene. ( 12362049 )		2002
10	Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. ( 10615125 )	Hughes A.E....Anderson D.M.	2000
11	Conductive hearing loss caused by hereditary incus necrosis: a study of familial expansile osteolysis. ( 8643278 )		1996
12	Genetic linkage of familial expansile osteolysis to chromosome 18q. ( 7911698 )	Hughes A.E....Mollan R.A.	1994
13	Familial expansile osteolysis: a morphological, histomorphometric and serological study. ( 1664226 )	Dickson G.R....Mollan R.A.	1991
14	Dental abnormalities associated with familial expansile osteolysis: a clinical and radiographic study. ( 2216357 )	Mitchell C.A....Wallace R.G.	1990
15	Dental histology in familial expansile osteolysis. ( 2341974 )		1990
16	The radiographic features of familial expansile osteolysis. ( 2353208 )	Crone MD...Wallace RG	1990
17	Familial expansile osteolysis. ( 2530018 )		1989
18	Familial expansile osteolysis. A new dysplasia. ( 3346299 )	Osterberg P.H....Toner P.G.	1988

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Genes for Familial Expansile Osteolysis

Genes related to Familial Expansile Osteolysis (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	1409.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	10615125 7911698 12362049 (more) 17447113 12568416 17284635 11555792 11771666 11973628 12568416 16104845 17174136 18328984 16831914 10615125 11165949 17229006
2	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	20.01	Novoseek inferred ⁵⁵	17284635 17174136
3	SQSTM1	Sequestosome 1	Protein Coding	19.35	Novoseek inferred ⁵⁵	17284635
4	TNFSF11	TNF Superfamily Member 11	Protein Coding	16.5	Novoseek inferred ⁵⁵	17174136

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Variations for Familial Expansile Osteolysis

ClinVar genetic disease variations for Familial Expansile Osteolysis:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TNFRSF11A	NM_003839.3(TNFRSF11A): c.46_63dup18 (p.Leu21_Ala22insLeuLeuCysAlaLeuLeu)	duplication	Pathogenic	rs879253796	GRCh37	Chromosome 18, 59992631: 59992648
2	TNFRSF11A	NM_003839.3(TNFRSF11A): c.46_63dup18 (p.Leu21_Ala22insLeuLeuCysAlaLeuLeu)	duplication	Pathogenic	rs879253796	GRCh38	Chromosome 18, 62325398: 62325415
3	TNFRSF11A	NM_003839.3(TNFRSF11A): c.45_62dup18 (p.Leu21_Ala22insLeuLeuCysAlaLeuLeu)	duplication	Pathogenic	rs886037749	GRCh37	Chromosome 18, 59992630: 59992647
4	TNFRSF11A	NM_003839.3(TNFRSF11A): c.45_62dup18 (p.Leu21_Ala22insLeuLeuCysAlaLeuLeu)	duplication	Pathogenic	rs886037749	GRCh38	Chromosome 18, 62325397: 62325414

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Expression for Familial Expansile Osteolysis

Search GEO for disease gene expression data for Familial Expansile Osteolysis.

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Pathways for Familial Expansile Osteolysis

Pathways related to Familial Expansile Osteolysis according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	NF-kappa B signaling pathway	hsa04064
2	Osteoclast differentiation	hsa04380

Pathways related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	12.81	SQSTM1 TNFRSF11A TNFRSF11B TNFSF11
2	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.49	TNFRSF11A TNFRSF11B TNFSF11
3	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.46	TNFRSF11A TNFRSF11B TNFSF11
4	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.22	TNFRSF11A TNFRSF11B TNFSF11
5	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.18	TNFRSF11A TNFRSF11B TNFSF11
6	RANK Signaling in Osteoclasts ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ BAFF in B-Cell Signaling ⁶⁴ RANK Pathway ⁶⁴ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	11.85	SQSTM1 TNFRSF11A TNFRSF11B TNFSF11
7	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ Immune response Oncostatin M signaling via MAPK in human cells ²² MAPK Cascade ¹ Oncostatin M Signaling Pathway ¹	11.81	TNFRSF11A TNFSF11
8	Apoptosis and Autophagy ⁴	11.81	TNFRSF11A TNFSF11
9	NF-kappa B signaling pathway ³⁷	11.49	TNFRSF11A TNFSF11
10	Rheumatoid arthritis ³⁷	11.45	TNFRSF11A TNFSF11
11	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.36	SQSTM1 TNFRSF11A TNFSF11
12	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.09	TNFRSF11A TNFRSF11B TNFSF11
13	Osteoclast differentiation ³⁷	11.03	SQSTM1 TNFRSF11A TNFRSF11B TNFSF11
14	TNFs bind their physiological receptors ⁶⁶	10.91	TNFRSF11B TNFSF11
15	Osteoblast Signaling ¹	10.51	TNFRSF11B TNFSF11
16	Osteoclast Signaling ¹	10.34	TNFRSF11A TNFRSF11B TNFSF11

Sources

GO Terms for Familial Expansile Osteolysis

Biological processes related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of NF-kappaB transcription factor activity	GO:0051092	9.49	TNFRSF11A TNFSF11
2	positive regulation of DNA-binding transcription factor activity	GO:0051091	9.48	TNFRSF11A TNFSF11
3	ossification	GO:0001503	9.46	TNFRSF11A TNFSF11
4	monocyte chemotaxis	GO:0002548	9.43	TNFRSF11A TNFSF11
5	osteoclast differentiation	GO:0030316	9.4	TNFRSF11A TNFSF11
6	positive regulation of bone resorption	GO:0045780	9.37	TNFRSF11A TNFSF11
7	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.33	TNFRSF11A TNFRSF11B TNFSF11
8	mammary gland alveolus development	GO:0060749	9.32	TNFRSF11A TNFSF11
9	TNFSF11-mediated signaling pathway	GO:0071847	9.26	TNFRSF11A TNFSF11
10	positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling	GO:0071848	8.96	TNFRSF11A TNFSF11
11	positive regulation of fever generation by positive regulation of prostaglandin secretion	GO:0071812	8.62	TNFRSF11A TNFSF11

Molecular functions related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine activity	GO:0005125	8.62	TNFRSF11B TNFSF11

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Familial Expansile Osteolysis (FEO)

Aliases & Classifications for Familial Expansile Osteolysis

MalaCards integrated aliases for Familial Expansile Osteolysis:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Familial Expansile Osteolysis

Related Diseases for Familial Expansile Osteolysis

Diseases related to Familial Expansile Osteolysis via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Familial Expansile Osteolysis:

Symptoms & Phenotypes for Familial Expansile Osteolysis

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Familial Expansile Osteolysis:

MGI Mouse Phenotypes related to Familial Expansile Osteolysis:

Drugs & Therapeutics for Familial Expansile Osteolysis

Genetic Tests for Familial Expansile Osteolysis

Genetic tests related to Familial Expansile Osteolysis:

Anatomical Context for Familial Expansile Osteolysis

MalaCards organs/tissues related to Familial Expansile Osteolysis:

Publications for Familial Expansile Osteolysis

Articles related to Familial Expansile Osteolysis:

Genes for Familial Expansile Osteolysis

Genes related to Familial Expansile Osteolysis (1 elite genes):

Variations for Familial Expansile Osteolysis

ClinVar genetic disease variations for Familial Expansile Osteolysis:

Expression for Familial Expansile Osteolysis

Pathways for Familial Expansile Osteolysis

Pathways related to Familial Expansile Osteolysis according to KEGG:

Pathways related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:

GO Terms for Familial Expansile Osteolysis

Biological processes related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:

Molecular functions related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:

Sources for Familial Expansile Osteolysis