MCID: ACR044
MIFTS: 37

Acroosteolysis Dominant Type

Categories: Bone diseases, Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Acroosteolysis Dominant Type

MalaCards integrated aliases for Acroosteolysis Dominant Type:

Name: Acroosteolysis Dominant Type 53 59 72
Hajdu-Cheney Syndrome 53 59 72
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 53 59
Arthrodentoosteodysplasia 53 59
Cheney Syndrome 53 59
Serpentine Fibula-Polycystic Kidneys Syndrome 53
Acrodentoosteodysplasia 59

Characteristics:

Orphanet epidemiological data:

59
acroosteolysis dominant type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

MESH via Orphanet 45 C531695 C535663 D031845
ICD10 via Orphanet 34 M89.5
UMLS via Orphanet 73 C0917715 C2930971
Orphanet 59 ORPHA955
UMLS 72 C0917715 C2930971

Summaries for Acroosteolysis Dominant Type

NIH Rare Diseases : 53 Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney syndrome, is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include osteoporosis (loss of bone mass), compression fractures, skull deformities, and curvature of the spine (scoliosis). The abnormalities associated with this condition may lead to short stature. Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by mutations in the NOTCH2 gene. The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.

MalaCards based summary : Acroosteolysis Dominant Type, also known as hajdu-cheney syndrome, is related to hajdu-cheney syndrome and acroosteolysis. An important gene associated with Acroosteolysis Dominant Type is NOTCH2 (Notch Receptor 2). Affiliated tissues include bone, kidney and heart, and related phenotypes are hypertelorism and osteopenia

Related Diseases for Acroosteolysis Dominant Type

Diseases in the Acroosteolysis family:

Acroosteolysis Dominant Type

Diseases related to Acroosteolysis Dominant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 hajdu-cheney syndrome 11.5
2 acroosteolysis 11.2
3 osteoporosis 10.9
4 bone mineral density quantitative trait locus 8 10.9
5 bone mineral density quantitative trait locus 15 10.9
6 bone resorption disease 10.8
7 bone disease 10.6
8 kidney disease 10.6
9 periodontitis 10.6
10 syringomyelia, noncommunicating isolated 10.5
11 melnick-needles syndrome 10.5
12 scoliosis 10.5
13 hydrocephalus 10.5
14 cystic kidney disease 10.5
15 syringomyelia 10.5
16 congenital hydrocephalus 10.5
17 alagille syndrome 1 10.4
18 lateral meningocele syndrome 10.4
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
20 polycystic kidney disease 10.4
21 ventricular septal defect 10.4
22 heart septal defect 10.4
23 glomerulonephritis 10.4
24 hypermobile ehlers-danlos syndrome 10.4
25 splenomegaly 10.4
26 metatarsus adductus 10.3
27 pulmonary hemosiderosis 10.3
28 scleroderma, familial progressive 10.3
29 spondylolisthesis 10.3
30 vesicoureteral reflux 1 10.3
31 periodontitis, chronic 10.3
32 premature ovarian failure 1 10.3
33 dental anomalies and short stature 10.3
34 meningioma, radiation-induced 10.3
35 bone mineral density quantitative trait locus 3 10.3
36 meningioma, familial 10.3
37 intraocular pressure quantitative trait locus 10.3
38 diabetes mellitus, ketosis-prone 10.3
39 lymphoma 10.3
40 brain meningioma 10.3
41 pain agnosia 10.3
42 osteomyelitis 10.3
43 meningocele 10.3
44 hypospadias 10.3
45 spinal meningioma 10.3
46 hemosiderosis 10.3
47 polyneuropathy 10.3
48 root resorption 10.3
49 rheumatic disease 10.3
50 squamous cell carcinoma 10.3

Graphical network of the top 20 diseases related to Acroosteolysis Dominant Type:



Diseases related to Acroosteolysis Dominant Type

Symptoms & Phenotypes for Acroosteolysis Dominant Type

Human phenotypes related to Acroosteolysis Dominant Type:

59 32 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
3 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
4 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
10 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
11 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
12 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
13 periodontitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000704
14 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
15 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
16 partial absence of toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0011305
17 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
18 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
19 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
20 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
21 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
22 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
23 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
24 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
25 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
26 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
27 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
28 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
29 wormian bones 59 32 frequent (33%) Frequent (79-30%) HP:0002645
30 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
31 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
32 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
33 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
34 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
35 platybasia 59 32 frequent (33%) Frequent (79-30%) HP:0002691
36 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
37 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
38 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
39 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
40 biconcave vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0004586
41 absent frontal sinuses 59 32 frequent (33%) Frequent (79-30%) HP:0002688
42 hypoplastic 5th lumbar vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0008424
43 abnormal fingernail morphology 32 frequent (33%) HP:0001231
44 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
45 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
46 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
47 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
48 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
49 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
50 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744

Drugs & Therapeutics for Acroosteolysis Dominant Type

Search Clinical Trials , NIH Clinical Center for Acroosteolysis Dominant Type

Genetic Tests for Acroosteolysis Dominant Type

Anatomical Context for Acroosteolysis Dominant Type

MalaCards organs/tissues related to Acroosteolysis Dominant Type:

41
Bone, Kidney, Heart, Skin, B Cells, Spinal Cord

Publications for Acroosteolysis Dominant Type

Articles related to Acroosteolysis Dominant Type:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. 38 71
21712856 2012
2
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 38 71
21378985 2011
3
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 38 71
21378989 2011
4
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. 38 71
17159511 2007
5
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 71
8723560 1996
6
The Hajdu Cheney mutation sensitizes mice to the osteolytic actions of tumor necrosis factor α. 38
31371452 2019
7
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. 38
31077240 2019
8
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. 38
30980954 2019
9
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis. 38
30767323 2019
10
Phenotype variability in Hajdu-Cheney syndrome. 38
29698804 2019
11
Notch signaling suppresses glucose metabolism in mesenchymal progenitors to restrict osteoblast differentiation. 38
30284985 2018
12
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. 38
30329210 2018
13
Mice harboring a Hajdu Cheney Syndrome mutation are sensitized to osteoarthritis. 38
29940267 2018
14
Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. 38
29566451 2018
15
Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. 38
29103128 2018
16
A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. 38
28600213 2018
17
Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis. 38
29545197 2018
18
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. 38
29618366 2018
19
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. 38
28941602 2018
20
An unusual presentation of intracranial meningioma in Hajdu-Cheney syndrome. 38
29547200 2018
21
The Hajdu Cheney Mutation Is a Determinant of B-Cell Allocation of the Splenic Marginal Zone. 38
29037852 2018
22
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families. 38
30779700 2018
23
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. 38
30420927 2018
24
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome. 38
28856714 2018
25
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome. 38
29176149 2017
26
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome. 38
28938420 2017
27
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis. 38
29149593 2017
28
Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature. 38
29242787 2017
29
Letter to the Editor concerning "Hajdu Cheney syndrome; report of a novel NOTCH2 mutation and treatment with denosumab" by G. Adami et al. Bone 2016;92:150-156. 38
28411109 2017
30
Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. 38
28592489 2017
31
The developmental biology of genetic Notch disorders. 38
28512196 2017
32
An Antibody to Notch2 Reverses the Osteopenic Phenotype of Hajdu-Cheney Mutant Male Mice. 38
28323963 2017
33
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. 38
28040705 2017
34
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. 38
27592446 2016
35
Poster 315 Complications Associated with Hajdu-Cheney Syndrome: A Case Report. 38
27673071 2016
36
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. 38
27241678 2016
37
[Bilateral Instability of the Interphalangeal Articulation of the Thumb in Hajdu-Cheney Syndrome]. 38
25996871 2016
38
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 38
27312922 2016
39
Osteoblast-specific Notch2 inactivation causes increased trabecular bone mass at specific sites of the appendicular skeleton. 38
27102824 2016
40
Hajdu-Cheney syndrome - a rare cause of micrognathia. 38
27488012 2016
41
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. 38
26400009 2016
42
Hajdu Cheney Syndrome. 38
27042504 2016
43
Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome. 38
27857819 2016
44
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. 38
26894198 2016
45
Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption. 38
26627824 2016
46
Surgical challenges in the management of cervical kyphotic deformity in patients with severe osteoporosis: an illustrative case of a patient with Hajdu-Cheney syndrome. 38
26198704 2015
47
Expert's comment concerning Grand Rounds case entitled "Surgical challenges in the management of cervical kyphotic deformity in patients with severe osteoporosis: an illustrative case of a patient with Hajdu-Cheney syndrome" (T. A. Mattei, A. A. Rehman, A. Issawi, D. R. Fassett). 38
26208937 2015
48
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. 38
26184537 2015
49
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 38
25394726 2015
50
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. 38
25696021 2015

Variations for Acroosteolysis Dominant Type

ClinVar genetic disease variations for Acroosteolysis Dominant Type:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH2 NM_024408.4(NOTCH2): c.5345del (p.Asp1782fs) deletion Pathogenic rs1553193977 1:120462986-120462986 1:119920363-119920363
2 NOTCH2 NM_024408.4(NOTCH2): c.6449_6450del (p.Pro2150fs) deletion Pathogenic rs1553193574 1:120458895-120458896 1:119916272-119916273
3 NOTCH2 NM_024408.4(NOTCH2): c.6272del (p.Phe2091fs) deletion Pathogenic 1:120459073-120459073 1:119916450-119916450
4 NOTCH2 NOTCH2, 1-BP DEL, 6460T deletion Pathogenic
5 NOTCH2 NM_024408.4(NOTCH2): c.6622C> T (p.Gln2208Ter) single nucleotide variant Pathogenic rs387906746 1:120458723-120458723 1:119916100-119916100
6 NOTCH2 NM_024408.4(NOTCH2): c.7119T> G (p.Tyr2373Ter) single nucleotide variant Pathogenic 1:120458226-120458226 1:119915603-119915603
7 NOTCH2 NM_024408.4(NOTCH2): c.6949C> T (p.Gln2317Ter) single nucleotide variant Pathogenic rs387906747 1:120458396-120458396 1:119915773-119915773
8 NOTCH2 NM_024408.4(NOTCH2): c.6895G> T (p.Glu2299Ter) single nucleotide variant Pathogenic rs387906748 1:120458450-120458450 1:119915827-119915827
9 NOTCH2 NM_024408.4(NOTCH2): c.7165C> T (p.Gln2389Ter) single nucleotide variant Pathogenic rs387906749 1:120458180-120458180 1:119915557-119915557
10 NOTCH2 NM_024408.4(NOTCH2): c.7078C> T (p.Gln2360Ter) single nucleotide variant Pathogenic rs1553193485 1:120458267-120458267 1:119915644-119915644
11 NOTCH2 NM_024408.4(NOTCH2): c.7198C> T (p.Arg2400Ter) single nucleotide variant Pathogenic rs1325403451 1:120458147-120458147 1:119915524-119915524
12 NOTCH2 NM_024408.4(NOTCH2): c.6909dup (p.Ile2304fs) duplication Pathogenic rs771237928 1:120458436-120458436 1:119915813-119915813
13 NOTCH2 NM_024408.4(NOTCH2): c.6503del (p.Pro2168fs) deletion Pathogenic 1:120458842-120458842 1:119916219-119916219
14 NOTCH2 NM_024408.4(NOTCH2): c.6909del (p.Ile2304fs) deletion Pathogenic 1:120458436-120458436 1:119915818-119915818
15 NOTCH2 NM_024408.4(NOTCH2): c.6853C> T (p.Gln2285Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1553193507 1:120458492-120458492 1:119915869-119915869
16 NOTCH2 NM_024408.4(NOTCH2): c.6919_6920del (p.Phe2307fs) deletion Likely pathogenic 1:120458425-120458426 1:119915802-119915803
17 NOTCH2 NM_024408.4(NOTCH2): c.4897G> A (p.Val1633Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116321057 1:120465364-120465364 1:119922741-119922741
18 NOTCH2 NM_024408.4(NOTCH2): c.3205C> A (p.Arg1069=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752485 1:120480612-120480612 1:119937989-119937989
19 NOTCH2 NM_024408.4(NOTCH2): c.4740G> A (p.Lys1580=) single nucleotide variant Conflicting interpretations of pathogenicity rs367699419 1:120466379-120466379 1:119923756-119923756
20 NOTCH2 NM_024408.4(NOTCH2): c.1567+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372367275 1:120508991-120508991 1:119966368-119966368
21 NOTCH2 NM_024408.4(NOTCH2): c.1804G> A (p.Ala602Thr) single nucleotide variant Uncertain significance rs140311741 1:120506308-120506308 1:119963685-119963685
22 NOTCH2 NM_024408.4(NOTCH2): c.3206G> A (p.Arg1069Gln) single nucleotide variant Uncertain significance rs146014987 1:120480611-120480611 1:119937988-119937988
23 NOTCH2 NM_024408.4(NOTCH2): c.6956C> T (p.Ala2319Val) single nucleotide variant Uncertain significance rs373527990 1:120458389-120458389 1:119915766-119915766
24 NOTCH2 NM_024408.4(NOTCH2): c.1957C> A (p.Pro653Thr) single nucleotide variant Uncertain significance rs1553198769 1:120502084-120502084 1:119959461-119959461
25 NOTCH2 NM_024408.4(NOTCH2): c.5945A> G (p.His1982Arg) single nucleotide variant Uncertain significance rs1553193747 1:120460370-120460370 1:119917747-119917747
26 NOTCH2 NM_024408.4(NOTCH2): c.4639C> G (p.Leu1547Val) single nucleotide variant Uncertain significance rs1241715192 1:120466480-120466480 1:119923857-119923857
27 NOTCH2 NM_024408.4(NOTCH2): c.3652C> T (p.Arg1218Trp) single nucleotide variant Uncertain significance rs587641573 1:120478098-120478098 1:119935475-119935475
28 NOTCH2 NM_024408.4(NOTCH2): c.6118G> A (p.Asp2040Asn) single nucleotide variant Uncertain significance rs748876258 1:120459227-120459227 1:119916604-119916604
29 NOTCH2 NM_024408.4(NOTCH2): c.956A> G (p.Asn319Ser) single nucleotide variant Uncertain significance rs144936899 1:120512286-120512286 1:119969663-119969663
30 NOTCH2 NM_024408.4(NOTCH2): c.5218C> A (p.Leu1740Ile) single nucleotide variant Uncertain significance rs747138507 1:120464428-120464428 1:119921805-119921805
31 NOTCH2 NM_024408.4(NOTCH2): c.6251T> A (p.Ile2084Asn) single nucleotide variant Uncertain significance rs757880322 1:120459094-120459094 1:119916471-119916471
32 NOTCH2 NM_024408.4(NOTCH2): c.6893G> A (p.Arg2298Gln) single nucleotide variant Uncertain significance rs140832430 1:120458452-120458452 1:119915829-119915829
33 NOTCH2 NM_024408.4(NOTCH2): c.5731C> T (p.Arg1911Cys) single nucleotide variant Uncertain significance 1:120461985-120461985 1:119919362-119919362
34 NOTCH2 NM_024408.4(NOTCH2): c.6160A> G (p.Met2054Val) single nucleotide variant Uncertain significance 1:120459185-120459185 1:119916562-119916562
35 NOTCH2 NM_024408.4(NOTCH2): c.4304G> A (p.Arg1435Gln) single nucleotide variant Uncertain significance 1:120468135-120468135 1:119925512-119925512
36 NOTCH2 NM_024408.4(NOTCH2): c.2945T> C (p.Val982Ala) single nucleotide variant Uncertain significance 1:120484185-120484185 1:119941562-119941562
37 NOTCH2 NM_024408.4(NOTCH2): c.1915+2dup duplication Uncertain significance 1:120506194-120506195 1:119963572-119963572
38 NOTCH2 NM_024408.4(NOTCH2): c.6916A> T (p.Thr2306Ser) single nucleotide variant Uncertain significance 1:120458429-120458429 1:119915806-119915806
39 NOTCH2 NM_024408.4(NOTCH2): c.1280G> A (p.Cys427Tyr) single nucleotide variant Uncertain significance 1:120510229-120510229 1:119967606-119967606
40 NOTCH2 NM_024408.4(NOTCH2): c.1248G> A (p.Val416=) single nucleotide variant Likely benign rs374135765 1:120510716-120510716 1:119968093-119968093
41 NOTCH2 NM_024408.4(NOTCH2): c.4999G> A (p.Val1667Ile) single nucleotide variant Likely benign rs17024517 1:120465262-120465262 1:119922639-119922639
42 NOTCH2 NM_024408.4(NOTCH2): c.7223T> A (p.Leu2408His) single nucleotide variant Likely benign rs35586704 1:120458122-120458122 1:119915499-119915499
43 NOTCH2 NM_024408.4(NOTCH2): c.6997G> C (p.Ala2333Pro) single nucleotide variant Likely benign rs143506822 1:120458348-120458348 1:119915725-119915725
44 NOTCH2 NM_024408.4(NOTCH2): c.3441G> A (p.Glu1147=) single nucleotide variant Benign/Likely benign rs371875533 1:120479986-120479986 1:119937363-119937363
45 NOTCH2 NM_024408.4(NOTCH2): c.3625T> G (p.Phe1209Val) single nucleotide variant Benign/Likely benign rs147223770 1:120478125-120478125 1:119935502-119935502
46 NOTCH2 NM_024408.4(NOTCH2): c.4238T> A (p.Leu1413His) single nucleotide variant Benign/Likely benign rs41313282 1:120468201-120468201 1:119925578-119925578
47 NOTCH2 NM_024408.4(NOTCH2): c.6094C> A (p.His2032Asn) single nucleotide variant Benign/Likely benign rs143236410 1:120459251-120459251 1:119916628-119916628
48 NOTCH2 NM_024408.4(NOTCH2): c.4311C> T (p.Gly1437=) single nucleotide variant Benign rs34561092 1:120468128-120468128 1:119925505-119925505
49 NOTCH2 NM_024408.4(NOTCH2): c.3519C> T (p.Cys1173=) single nucleotide variant Benign rs115325955 1:120479908-120479908 1:119937285-119937285
50 NOTCH2 NM_024408.4(NOTCH2): c.3779G> A (p.Arg1260His) single nucleotide variant Benign rs75423398 1:120471712-120471712 1:119929089-119929089

Expression for Acroosteolysis Dominant Type

Search GEO for disease gene expression data for Acroosteolysis Dominant Type.

Pathways for Acroosteolysis Dominant Type

GO Terms for Acroosteolysis Dominant Type

Sources for Acroosteolysis Dominant Type

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