SSOAOD
MCID: SHR106
MIFTS: 38

Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans (SSOAOD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Short Stature and Advanced Bone Age, with or Without Early-Onset...

MalaCards integrated aliases for Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:

Name: Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 57 73 28 5
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 57 19 42 73 12
Familial Osteochondritis Dissecans 19 42 58 71
Ssoaod 57 73
Od 57 42
Short Stature and Advanced Bone Age, with Early-Onset Osteoarthritis 5
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 58
Osteochondritis Dissecans and Short Stature 58
Focd 42
Ocd 42

Characteristics:


Inheritance:

Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans: Autosomal dominant 57
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome: Autosomal dominant 58
Familial Osteochondritis Dissecans: Autosomal dominant 58

Prevelance:

Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome: Adolescent,Childhood 58
Familial Osteochondritis Dissecans: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
waddling gait (in some patients)


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 165800
MeSH 43 D010008
ICD10 via Orphanet 32 M89.8 M93.2
UMLS via Orphanet 72 C3665488
UMLS 71 C3665488

Summaries for Short Stature and Advanced Bone Age, with or Without Early-Onset...

MedlinePlus Genetics: 42 Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints.A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.

MalaCards based summary: Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans, also known as osteochondritis dissecans, short stature, and early-onset osteoarthritis, is related to obsessive-compulsive disorder and pediatric autoimmune neuropsychiatric disorders associated with streptococcus in, and has symptoms including waddling gait, knee pain and elbow pain. An important gene associated with Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans is ACAN (Aggrecan). Affiliated tissues include bone and brain, and related phenotypes are developmental stagnation and brachydactyly

OMIM®: 57 Patients with SSOAD exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away. (165800) (Updated 08-Dec-2022)

Orphanet 58 Familial osteochondritis dissecans: Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

Short stature-advanced bone age-early-onset osteoarthritis syndrome: A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.

GARD: 19 Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called Familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes in the ACAN gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: 73 An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue.

Related Diseases for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Diseases related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 obsessive-compulsive disorder 11.9
2 pediatric autoimmune neuropsychiatric disorders associated with streptococcus in 11.3
3 gilles de la tourette syndrome 11.2
4 eating disorder 11.1
5 pediatric acute-onset neuropsychiatric syndrome 11.1
6 trichotillomania 11.0
7 succinic semialdehyde dehydrogenase deficiency 10.9
8 dystonia 11, myoclonic 10.9
9 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.9
10 choreoacanthocytosis 10.9
11 chromosome 3pter-p25 deletion syndrome 10.9
12 schuurs-hoeijmakers syndrome 10.9
13 anxiety 10.8
14 osteogenesis imperfecta, type i 10.6
15 brittle bone disorder 10.6
16 osteochondrosis 10.6
17 osteoarthritis 10.6
18 osteochondritis dissecans 10.6
19 tic disorder 10.6
20 attention deficit-hyperactivity disorder 10.5
21 personality disorder 10.5
22 post-traumatic stress disorder 10.5
23 hyperphenylalaninemia, bh4-deficient, a 10.5
24 chronic tic disorder 10.5
25 panic disorder 10.4
26 major depressive disorder 10.4
27 autism spectrum disorder 10.4
28 obsessive-compulsive personality disorder 10.4
29 body dysmorphic disorder 10.4
30 mood disorder 10.4
31 autism 10.4
32 osteochondrodysplasia 10.3
33 bipolar disorder 10.3
34 generalized anxiety disorder 10.3
35 acute stress disorder 10.3
36 schizophrenia 10.3
37 cartilage disease 10.3
38 psychotic disorder 10.3
39 social phobia 10.3
40 agoraphobia 10.3
41 schizotypal personality disorder 10.2
42 severe combined immunodeficiency 10.2
43 bulimia nervosa 10.2
44 cerebellar atrophy, developmental delay, and seizures 10.2
45 covid-19 10.2
46 separation anxiety disorder 10.2
47 anorexia nervosa 10.2
48 carpal tunnel syndrome 10.1
49 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
50 blount disease, adolescent 10.1

Graphical network of the top 20 diseases related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:



Diseases related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans

Symptoms & Phenotypes for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Human phenotypes related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental stagnation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007281
2 brachydactyly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001156
3 short thumb 58 30 Very rare (1%) Frequent (79-30%)
HP:0009778
4 midface retrusion 58 30 Very rare (1%) Frequent (79-30%)
HP:0011800
5 osteoarthritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002758
6 depressed nasal bridge 30 Very rare (1%) HP:0005280
7 lumbar hyperlordosis 30 Very rare (1%) HP:0002938
8 broad hallux 30 Very rare (1%) HP:0010055
9 frontal bossing 30 HP:0002007
10 short stature 30 HP:0004322
11 waddling gait 30 HP:0002515
12 accelerated skeletal maturation 30 HP:0005616
13 exostoses 30 HP:0100777
14 hip osteoarthritis 30 HP:0008843
15 osteochondritis dissecans 30 HP:0010886
16 growth abnormality 30 HP:0001507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Height:
short stature

Skeletal Pelvis:
hip osteoarthritis

Growth Other:
high ratio between sitting height and total height

Head And Neck Nose:
flat nasal bridge (in some patients)

Skeletal Hands:
numbness of 5th finger and ulnar half of 4th finger
slightly shorter metacarpal bones ii, iii, and iv
shortening of distal phalanges (in some patients)
brachydactyly (in some patients)
short thumbs (in some patients)

Skeletal:
exostoses
advanced bone age
osteoarthritis, early-onset (in some patients)
osteochondritis dissecans (uncommon)

Skeletal Limbs:
swelling in the elbows
pain in the elbows
loss of movement in the elbows (in some patients)
flattening of the capitulum of the humerus
broadening of the head of the radius
more
Head And Neck Face:
midface hypoplasia, mild (in some patients)
frontal bossing (uncommon)

Skeletal Spine:
spondyloarthrosis
exaggerated lumbar lordosis (in some patients)
intervertebral disc disease (in some patients)

Skeletal Feet:
broad halluces (in some patients)

Clinical features from OMIM®:

165800 (Updated 08-Dec-2022)

UMLS symptoms related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:


waddling gait; knee pain; elbow pain; swelling in the elbows

Drugs & Therapeutics for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Search Clinical Trials, NIH Clinical Center for Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans

Genetic Tests for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Genetic tests related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:

# Genetic test Affiliating Genes
1 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 28 ACAN

Anatomical Context for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Organs/tissues related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:

MalaCards : Bone, Brain

Publications for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Articles related to Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:

(show all 41)
# Title Authors PMID Year
1
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. 62 57 5
20137779 2010
2
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation. 57 5
28331218 2017
3
ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment. 57 5
27710243 2017
4
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 57 5
27870580 2017
5
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. 57 5
24762113 2014
6
FAMILIAL OCCURRENCE OF OSTEOCHONDRITIS DISSECANS. 57 5
14216462 1964
7
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. 62 57
18226555 2008
8
Familial osteochondritis dissecans and dwarfism. 62 57
7331787 1981
9
Familial osteochondritis dissecans and carpal tunnel syndrome. 62 57
532581 1979
10
Familial osteochondritis dissecans with associated tibia vara. 62 57
13475409 1957
11
Familial osteochondritis dissecans. 62 57
14353963 1955
12
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature. 5
31841439 2020
13
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. 57
25741789 2015
14
Familial multiple osteochondritis dissecans. Report of a kindred. 57
3968094 1985
15
Aarskog's syndrome. 57
7436535 1980
16
Aarskog syndrome. New findings and genetic analysis. 57
712980 1978
17
Familial polyarticular osteochondritis dissecans masquerading as juvenile rheumatoid arthritis. 57
671436 1978
18
The incidence of osteochondritis dissecans in the condyles of the femur. 57
1015263 1976
19
Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects. 57
4382085 1967
20
Osteochondritis dissecans in three members of one family. 57
14353962 1955
21
[A familial skeletal disorder with multilocular, aseptic bone necrosis, and with osteochondritis dissecans in particular]. 57
14831860 1951
22
Resting state functional brain imaging in obsessive-compulsive disorder across genders. 62
34474645 2022
23
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan. 62
35338222 2022
24
Variable expressivity in a family with an aggrecanopathy. 62
34894100 2022
25
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature. 62
34456977 2021
26
A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease. 62
33298914 2020
27
Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes. 62
32980524 2020
28
Aggrecanopathies highlight the need for genetic evaluation of ISS children. 62
32413843 2020
29
Novel pathogenic ACAN variants in non-syndromic short stature patients. 62
28396070 2017
30
Phylogenetic typing and molecular detection of virulence factors of avian pathogenic Escherichia coli isolated from colibacillosis cases in Japanese quail. 62
28473898 2017
31
Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly. 62
27388238 2016
32
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases. 62
27353333 2016
33
The different roles of aggrecan interaction domains. 62
23019016 2012
34
Phenotypic and genotypic properties of Escherichia coli isolated from colisepticemic cases of Japanese quail. 62
20401756 2010
35
Performance characteristics of a gated fiber-optic-coupled dosimeter in high-energy pulsed photon radiation dosimetry. 62
19932623 2010
36
Potential clinical utility of a fibre optic-coupled dosemeter for dose measurements in diagnostic radiology. 62
18845674 2008
37
Asymptomatic bacteriuria Escherichia coli strain 83972 carries mutations in the foc locus and is unable to express F1C fimbriae. 62
16735742 2006
38
Familial osteochondritis dissecans. 62
2259663 1990
39
Familial osteochondritis dissecans. 62
2791462 1989
40
Familial osteochondritis dissecans: a dysplasia of articular cartilage? 62
3992264 1985
41
Familial osteochondritis dissecans of the knee. 62
477064 1979

Variations for Short Stature and Advanced Bone Age, with or Without Early-Onset...

ClinVar genetic disease variations for Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:

5 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACAN NM_001369268.1(ACAN):c.4474del (p.Ser1492fs) DEL Pathogenic
1685497 GRCh37: 15:89400289-89400289
GRCh38: 15:88857058-88857058
2 ACAN NM_001369268.1(ACAN):c.301C>T (p.Gln101Ter) SNV Pathogenic
1526221 GRCh37: 15:89382124-89382124
GRCh38: 15:88838893-88838893
3 ACAN NM_001369268.1(ACAN):c.1605-2A>C SNV Pathogenic
1332835 GRCh37: 15:89391140-89391140
GRCh38: 15:88847909-88847909
4 ACAN NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met) SNV Pathogenic
14306 rs267606625 GRCh37: 15:89416172-89416172
GRCh38: 15:88872941-88872941
5 ACAN NM_001369268.1(ACAN):c.7178T>C (p.Leu2393Pro) SNV Pathogenic
440746 rs1555457513 GRCh37: 15:89414730-89414730
GRCh38: 15:88871499-88871499
6 ACAN NM_001369268.1(ACAN):c.4657G>T (p.Glu1553Ter) SNV Pathogenic
440748 rs1555456128 GRCh37: 15:89400473-89400473
GRCh38: 15:88857242-88857242
7 ACAN NM_001369268.1(ACAN):c.223T>C (p.Trp75Arg) SNV Pathogenic
440749 rs1555453695 GRCh37: 15:89382046-89382046
GRCh38: 15:88838815-88838815
8 ACAN NM_001369268.1(ACAN):c.1425del (p.Val478fs) DEL Pathogenic
440750 rs1555454630 GRCh37: 15:89389109-89389109
GRCh38: 15:88845878-88845878
9 ACAN NM_001369268.1(ACAN):c.7317G>A (p.Trp2439Ter) SNV Pathogenic
440751 rs1555457632 GRCh37: 15:89416126-89416126
GRCh38: 15:88872895-88872895
10 ACAN NM_001369268.1(ACAN):c.7204C>T (p.Gln2402Ter) SNV Pathogenic
440752 rs1555457525 GRCh37: 15:89414756-89414756
GRCh38: 15:88871525-88871525
11 ACAN NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn) SNV Likely Pathogenic
14305 rs121913568 GRCh37: 15:89415269-89415269
GRCh38: 15:88872038-88872038
12 ACAN NM_001369268.1(ACAN):c.293_315del (p.Ser98fs) DEL Likely Pathogenic
1342158 GRCh37: 15:89382114-89382136
GRCh38: 15:88838883-88838905
13 ACAN NM_001369268.1(ACAN):c.2783G>A (p.Trp928Ter) SNV Likely Pathogenic
1705389 GRCh37: 15:89398599-89398599
GRCh38: 15:88855368-88855368
14 ACAN NM_001369268.1(ACAN):c.5858del (p.Glu1953fs) DEL Likely Pathogenic
1709437 GRCh37: 15:89401674-89401674
GRCh38: 15:88858443-88858443
15 ACAN NM_001369268.1(ACAN):c.2023C>T (p.Arg675Ter) SNV Likely Pathogenic
1328253 GRCh37: 15:89392959-89392959
GRCh38: 15:88849728-88849728
16 ACAN NM_001369268.1(ACAN):c.1658dup (p.Gly554fs) DUP Likely Pathogenic
1683567 GRCh37: 15:89391192-89391193
GRCh38: 15:88847961-88847962
17 ACAN NM_001369268.1(ACAN):c.91G>T (p.Val31Phe) SNV Uncertain Significance
1679113 GRCh37: 15:89381914-89381914
GRCh38: 15:88838683-88838683
18 ACAN NM_001369268.1(ACAN):c.919G>A (p.Val307Met) SNV Uncertain Significance
1709955 GRCh37: 15:89386747-89386747
GRCh38: 15:88843516-88843516
19 ACAN NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala) SNV Uncertain Significance
1679571 GRCh37: 15:89398355-89398355
GRCh38: 15:88855124-88855124
20 ACAN NM_001369268.1(ACAN):c.7430C>A (p.Thr2477Lys) SNV Uncertain Significance
1339134 GRCh37: 15:89416239-89416239
GRCh38: 15:88873008-88873008
21 ACAN NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) SNV Benign
623875 rs181736584 GRCh37: 15:89389050-89389050
GRCh38: 15:88845819-88845819
22 ACAN NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) SNV Benign
283854 rs190361551 GRCh37: 15:89417149-89417149
GRCh38: 15:88873918-88873918
23 ACAN NM_001369268.1(ACAN):c.2037G>A (p.Ala679=) SNV Benign
283926 rs372553119 GRCh37: 15:89395035-89395035
GRCh38: 15:88851804-88851804
24 ACAN NM_001369268.1(ACAN):c.1530G>A (p.Pro510=) SNV Benign
284338 rs34637731 GRCh37: 15:89390574-89390574
GRCh38: 15:88847343-88847343
25 ACAN NM_001369268.1(ACAN):c.1866C>T (p.Cys622=) SNV Benign
284340 rs35652696 GRCh37: 15:89392802-89392802
GRCh38: 15:88849571-88849571
26 ACAN NM_001369268.1(ACAN):c.1850G>A (p.Arg617His) SNV Benign
284346 rs34616796 GRCh37: 15:89392786-89392786
GRCh38: 15:88849555-88849555
27 ACAN NM_001369268.1(ACAN):c.1515G>A (p.Ala505=) SNV Benign
284347 rs34957282 GRCh37: 15:89390559-89390559
GRCh38: 15:88847328-88847328
28 ACAN NM_001369268.1(ACAN):c.186C>T (p.Thr62=) SNV Benign
287638 rs191648646 GRCh37: 15:89382009-89382009
GRCh38: 15:88838778-88838778
29 ACAN NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) SNV Benign
768723 rs35676128 GRCh37: 15:89401825-89401825
GRCh38: 15:88858594-88858594
30 ACAN NM_001369268.1(ACAN):c.438G>A (p.Leu146=) SNV Benign
774946 rs35600223 GRCh37: 15:89382261-89382261
GRCh38: 15:88839030-88839030
31 ACAN NM_001369268.1(ACAN):c.1398C>T (p.Thr466=) SNV Benign
779449 rs185960535 GRCh37: 15:89389082-89389082
GRCh38: 15:88845851-88845851
32 ACAN NM_001369268.1(ACAN):c.1719A>G (p.Val573=) SNV Benign
786631 rs57669733 GRCh37: 15:89391256-89391256
GRCh38: 15:88848025-88848025
33 ACAN NM_001369268.1(ACAN):c.2247G>A (p.Val749=) SNV Benign
788898 rs137972043 GRCh37: 15:89395245-89395245
GRCh38: 15:88852014-88852014
34 ACAN NM_001369268.1(ACAN):c.204A>C (p.Pro68=) SNV Benign
790874 rs372041880 GRCh37: 15:89382027-89382027
GRCh38: 15:88838796-88838796
35 ACAN NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) SNV Benign
1205871 GRCh37: 15:89390513-89390513
GRCh38: 15:88847282-88847282
36 ACAN NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) SNV Benign
1206050 GRCh37: 15:89388894-89388894
GRCh38: 15:88845663-88845663
37 ACAN NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) SNV Benign
1206136 GRCh37: 15:89392689-89392689
GRCh38: 15:88849458-88849458
38 ACAN NM_001369268.1(ACAN):c.1051+9C>T SNV Benign
1206168 GRCh37: 15:89386888-89386888
GRCh38: 15:88843657-88843657
39 ACAN NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) SNV Benign
1206324 GRCh37: 15:89392818-89392818
GRCh38: 15:88849587-88849587
40 ACAN NM_001369268.1(ACAN):c.1221C>T (p.Val407=) SNV Benign
1206376 GRCh37: 15:89388905-89388905
GRCh38: 15:88845674-88845674
41 ACAN NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) SNV Benign
1206411 GRCh37: 15:89382129-89382129
GRCh38: 15:88838898-88838898
42 ACAN NM_001369268.1(ACAN):c.1051+10G>A SNV Benign
1214370 GRCh37: 15:89386889-89386889
GRCh38: 15:88843658-88843658
43 ACAN NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) SNV Benign
1293770 GRCh37: 15:89390520-89390520
GRCh38: 15:88847289-88847289
44 ACAN NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=) SNV Benign
291234 rs530742363 GRCh37: 15:89399167-89399167
GRCh38: 15:88855936-88855936
45 ACAN NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr) SNV Benign
1174760 GRCh37: 15:89398631-89398631
GRCh38: 15:88855400-88855400
46 ACAN NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala) SNV Benign
1174779 GRCh37: 15:89400023-89400023
GRCh38: 15:88856792-88856792
47 ACAN NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile) SNV Benign
1188886 GRCh37: 15:89398605-89398605
GRCh38: 15:88855374-88855374
48 ACAN NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val) SNV Benign
1188935 GRCh37: 15:89402051-89402051
GRCh38: 15:88858820-88858820
49 ACAN NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu) SNV Benign
1229794 GRCh37: 15:89398407-89398407
GRCh38: 15:88855176-88855176
50 ACAN NM_001369268.1(ACAN):c.757+53T>G SNV Benign
1247326 GRCh37: 15:89385151-89385151
GRCh38: 15:88841920-88841920

UniProtKB/Swiss-Prot genetic disease variations for Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans:

73
# Symbol AA change Variation ID SNP ID
1 ACAN p.Val2418Met VAR_063765 rs779794758

Expression for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Search GEO for disease gene expression data for Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans.

Pathways for Short Stature and Advanced Bone Age, with or Without Early-Onset...

GO Terms for Short Stature and Advanced Bone Age, with or Without Early-Onset...

Sources for Short Stature and Advanced Bone Age, with or Without Early-Onset...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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