SSOAOD
MCID: SHR106
MIFTS: 31

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

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 72 39
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 57 72 13 6
Familial Osteochondritis Dissecans 58 70
Ssoaod 57 72
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis; Od 57
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 58
Osteochondritis Dissecans and Short Stature 58
Od 57

Characteristics:

Orphanet epidemiological data:

58
familial osteochondritis dissecans
Inheritance: Autosomal dominant; Age of onset: Childhood;
short stature-advanced bone age-early-onset osteoarthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait (in some patients)


HPO:

31
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM® 57 165800
MeSH 44 D010008
ICD10 via Orphanet 33 M89.8 M93.2
UMLS via Orphanet 71 C3665488
UMLS 70 C3665488

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

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 05-Apr-2021)

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 familial osteochondritis dissecans and brittle bone disorder, 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 related phenotypes are developmental stagnation and brachydactyly

UniProtKB/Swiss-Prot : 72 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans: 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:

(showing 12, show less)
# Related Disease Score Top Affiliating Genes
1 familial osteochondritis dissecans 11.8
2 brittle bone disorder 10.6
3 osteochondrosis 10.6
4 osteoarthritis 10.6
5 osteochondritis dissecans 10.6
6 idiopathic avascular necrosis 10.6
7 dwarfism 10.3
8 carpal tunnel syndrome 10.1
9 blount disease, adolescent 10.1
10 scoliosis 10.1
11 idiopathic scoliosis 10.1
12 blount's disease 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 31 (showing 16, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental stagnation 58 31 frequent (33%) Frequent (79-30%) HP:0007281
2 brachydactyly 58 31 very rare (1%) Frequent (79-30%) HP:0001156
3 short thumb 58 31 very rare (1%) Frequent (79-30%) HP:0009778
4 midface retrusion 58 31 very rare (1%) Frequent (79-30%) HP:0011800
5 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
6 depressed nasal bridge 31 very rare (1%) HP:0005280
7 lumbar hyperlordosis 31 very rare (1%) HP:0002938
8 broad hallux 31 very rare (1%) HP:0010055
9 frontal bossing 31 HP:0002007
10 short stature 31 HP:0004322
11 waddling gait 31 HP:0002515
12 accelerated skeletal maturation 31 HP:0005616
13 exostoses 31 HP:0100777
14 hip osteoarthritis 31 HP:0008843
15 osteochondritis dissecans 31 HP:0010886
16 growth abnormality 31 HP:0001507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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...

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

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

40
Bone

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:

(showing 23, show less)
# Title Authors PMID Year
1
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation. 6 57
28331218 2017
2
ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment. 57 6
27710243 2017
3
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 6 57
27870580 2017
4
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. 57 6
25741789 2015
5
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. 57 6
24762113 2014
6
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. 6 57
20137779 2010
7
FAMILIAL OCCURRENCE OF OSTEOCHONDRITIS DISSECANS. 57 6
14216462 1964
8
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. 57
18226555 2008
9
Familial multiple osteochondritis dissecans. Report of a kindred. 57
3968094 1985
10
Familial osteochondritis dissecans and dwarfism. 57
7331787 1981
11
Aarskog's syndrome. 57
7436535 1980
12
Familial osteochondritis dissecans and carpal tunnel syndrome. 57
532581 1979
13
Aarskog syndrome. New findings and genetic analysis. 57
712980 1978
14
Familial polyarticular osteochondritis dissecans masquerading as juvenile rheumatoid arthritis. 57
671436 1978
15
The incidence of osteochondritis dissecans in the condyles of the femur. 57
1015263 1976
16
Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects. 57
4382085 1967
17
Familial osteochondritis dissecans with associated tibia vara. 57
13475409 1957
18
Osteochondritis dissecans in three members of one family. 57
14353962 1955
19
Familial osteochondritis dissecans. 57
14353963 1955
20
[A familial skeletal disorder with multilocular, aseptic bone necrosis, and with osteochondritis dissecans in particular]. 57
14831860 1951
21
A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease. 61
33298914 2020
22
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. 61
32980524 2020
23
Aggrecanopathies highlight the need for genetic evaluation of ISS children. 61
32413843 2020

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:

6 (showing 30, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACAN NM_001369268.1(ACAN):c.1425del (p.Val478fs) Deletion Pathogenic 440750 rs1555454630 GRCh37: 15:89389109-89389109
GRCh38: 15:88845878-88845878
2 ACAN NM_001369268.1(ACAN):c.1745del (p.Phe582fs) Deletion Pathogenic 440753 rs1555455057 GRCh37: 15:89392680-89392680
GRCh38: 15:88849449-88849449
3 ACAN NM_001369268.1(ACAN):c.2026+1G>A SNV Pathogenic 440745 rs1555455127 GRCh37: 15:89392963-89392963
GRCh38: 15:88849732-88849732
4 ACAN NM_001369268.1(ACAN):c.4657G>T (p.Glu1553Ter) SNV Pathogenic 440748 rs1555456128 GRCh37: 15:89400473-89400473
GRCh38: 15:88857242-88857242
5 ACAN NM_001369268.1(ACAN):c.7317G>A (p.Trp2439Ter) SNV Pathogenic 440751 rs1555457632 GRCh37: 15:89416126-89416126
GRCh38: 15:88872895-88872895
6 ACAN NM_001369268.1(ACAN):c.7178T>C (p.Leu2393Pro) SNV Pathogenic 440746 rs1555457513 GRCh37: 15:89414730-89414730
GRCh38: 15:88871499-88871499
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.7204C>T (p.Gln2402Ter) SNV Pathogenic 440752 rs1555457525 GRCh37: 15:89414756-89414756
GRCh38: 15:88871525-88871525
9 ACAN NM_001369268.1(ACAN):c.273del (p.Arg93fs) Deletion Pathogenic 440744 rs1555453708 GRCh37: 15:89382095-89382095
GRCh38: 15:88838864-88838864
10 ACAN NM_001369268.1(ACAN):c.5391del (p.Gln1798fs) Deletion Pathogenic 440747 rs1555456230 GRCh37: 15:89401205-89401205
GRCh38: 15:88857974-88857974
11 ACAN NM_001369268.1(ACAN):c.2541del (p.Val848fs) Deletion Pathogenic 803118 rs1596144242 GRCh37: 15:89398352-89398352
GRCh38: 15:88855121-88855121
12 ACAN NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met) SNV Pathogenic 14306 rs267606625 GRCh37: 15:89416172-89416172
GRCh38: 15:88872941-88872941
13 ACAN NM_001369268.1(ACAN):c.4844del (p.Gly1615fs) Deletion Pathogenic 997448 GRCh37: 15:89400659-89400659
GRCh38: 15:88857428-88857428
14 ACAN NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs) Microsatellite Pathogenic 997994 GRCh37: 15:89392808-89392809
GRCh38: 15:88849577-88849578
15 ACAN NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter) SNV Pathogenic 997996 GRCh37: 15:89392797-89392797
GRCh38: 15:88849566-88849566
16 ACAN NM_001369268.1(ACAN):c.1120_1123del (p.Gln373_Thr374insTer) Deletion Likely pathogenic 998051 GRCh37: 15:89388801-89388804
GRCh38: 15:88845570-88845573
17 ACAN NM_001369268.1(ACAN):c.221dup (p.Trp75fs) Duplication Likely pathogenic 976161 GRCh37: 15:89382042-89382043
GRCh38: 15:88838811-88838812
18 ACAN NM_001369268.1(ACAN):c.-7-2A>T SNV Likely pathogenic 635418 rs1596128699 GRCh37: 15:89379429-89379429
GRCh38: 15:88836198-88836198
19 ACAN NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn) SNV Uncertain significance 444004 rs1555454545 GRCh37: 15:89388877-89388877
GRCh38: 15:88845646-88845646
20 ACAN NM_001369268.1(ACAN):c.7358A>T (p.Asp2453Val) SNV Uncertain significance 252934 rs879255506 GRCh37: 15:89416167-89416167
GRCh38: 15:88872936-88872936
21 ACAN NM_001369268.1(ACAN):c.1955C>T (p.Thr652Met) SNV Uncertain significance 873431 GRCh37: 15:89392891-89392891
GRCh38: 15:88849660-88849660
22 ACAN NM_001369268.1(ACAN):c.7327C>A (p.Gln2443Lys) SNV Uncertain significance 975866 GRCh37: 15:89416136-89416136
GRCh38: 15:88872905-88872905
23 ACAN NM_001369268.1(ACAN):c.130G>A (p.Gly44Arg) SNV Uncertain significance 975885 GRCh37: 15:89381953-89381953
GRCh38: 15:88838722-88838722
24 ACAN NM_001369268.1(ACAN):c.2153C>A (p.Thr718Lys) SNV Uncertain significance 976016 GRCh37: 15:89395151-89395151
GRCh38: 15:88851920-88851920
25 ACAN NM_001369268.1(ACAN):c.962A>G (p.Asn321Ser) SNV Uncertain significance 976069 GRCh37: 15:89386790-89386790
GRCh38: 15:88843559-88843559
26 ACAN NM_001369268.1(ACAN):c.1015G>A (p.Asp339Asn) SNV Uncertain significance 1034407 GRCh37: 15:89386843-89386843
GRCh38: 15:88843612-88843612
27 ACAN NM_001369268.1(ACAN):c.6308C>T (p.Thr2103Met) SNV Uncertain significance 1034409 GRCh37: 15:89402124-89402124
GRCh38: 15:88858893-88858893
28 ACAN NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys) SNV Likely benign 803117 rs372895171 GRCh37: 15:89386741-89386741
GRCh38: 15:88843510-88843510
29 ACAN NM_001369268.1(ACAN):c.230G>A (p.Arg77His) SNV Likely benign 446080 rs199701329 GRCh37: 15:89382053-89382053
GRCh38: 15:88838822-88838822
30 ACAN NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln) SNV Benign 803116 rs34949187 GRCh37: 15:89386652-89386652
GRCh38: 15:88843421-88843421

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

72 (showing 1, show less)
# 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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