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 56 73 39
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 56 73 13
Familial Osteochondritis Dissecans 58 71
Ssoaod 56 73
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis; Od 56
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 58
Osteochondritis Dissecans and Short Stature 58
Od 56

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:

56
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 56 165800
MeSH 43 D010008
ICD10 via Orphanet 33 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...

OMIM : 56 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)

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 osteochondritis dissecans, 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 : 73 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 familial osteochondritis dissecans 12.0
2 osteochondritis dissecans 11.9
3 osteochondrosis 10.7
4 idiopathic avascular necrosis 10.7
5 dwarfism 10.3
6 carpal tunnel syndrome 10.2
7 blount disease, adolescent 10.2
8 scoliosis 10.2
9 idiopathic scoliosis 10.2
10 blount's disease 10.2
11 osteoarthritis 10.2

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 (show all 16)
# 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 short stature 31 HP:0004322
10 frontal bossing 31 HP:0002007
11 waddling gait 31 HP:0002515
12 exostoses 31 HP:0100777
13 accelerated skeletal maturation 31 HP:0005616
14 hip osteoarthritis 31 HP:0008843
15 osteochondritis dissecans 31 HP:0010886
16 growth abnormality 31 HP:0001507

Symptoms via clinical synopsis from OMIM:

56
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

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:

(show all 21)
# 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 56
28331218 2017
2
ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment. 6 56
27710243 2017
3
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 6 56
27870580 2017
4
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. 56 6
25741789 2015
5
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. 56 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 56
20137779 2010
7
FAMILIAL OCCURRENCE OF OSTEOCHONDRITIS DISSECANS. 6 56
14216462 1964
8
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. 56
18226555 2008
9
Familial multiple osteochondritis dissecans. Report of a kindred. 56
3968094 1985
10
Familial osteochondritis dissecans and dwarfism. 56
7331787 1981
11
Aarskog's syndrome. 56
7436535 1980
12
Familial osteochondritis dissecans and carpal tunnel syndrome. 56
532581 1979
13
Aarskog syndrome. New findings and genetic analysis. 56
712980 1978
14
Familial polyarticular osteochondritis dissecans masquerading as juvenile rheumatoid arthritis. 56
671436 1978
15
The incidence of osteochondritis dissecans in the condyles of the femur. 56
1015263 1976
16
Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects. 56
4382085 1967
17
Familial osteochondritis dissecans with associated tibia vara. 56
13475409 1957
18
Osteochondritis dissecans in three members of one family. 56
14353962 1955
19
Familial osteochondritis dissecans. 56
14353963 1955
20
[A familial skeletal disorder with multilocular, aseptic bone necrosis, and with osteochondritis dissecans in particular]. 56
14831860 1951
21
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 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACAN NM_001369268.1(ACAN):c.273del (p.Arg93fs)deletion Pathogenic 440744 rs1555453708 15:89382095-89382095 15:88838864-88838864
2 ACAN NM_001369268.1(ACAN):c.2026+1G>ASNV Pathogenic 440745 rs1555455127 15:89392963-89392963 15:88849732-88849732
3 ACAN NM_001369268.1(ACAN):c.7178T>C (p.Leu2393Pro)SNV Pathogenic 440746 rs1555457513 15:89414730-89414730 15:88871499-88871499
4 ACAN NM_001369268.1(ACAN):c.5391del (p.Gln1798fs)deletion Pathogenic 440747 rs1555456230 15:89401205-89401205 15:88857974-88857974
5 ACAN NM_001369268.1(ACAN):c.4657G>T (p.Glu1553Ter)SNV Pathogenic 440748 rs1555456128 15:89400473-89400473 15:88857242-88857242
6 ACAN NM_001369268.1(ACAN):c.223T>C (p.Trp75Arg)SNV Pathogenic 440749 rs1555453695 15:89382046-89382046 15:88838815-88838815
7 ACAN NM_001369268.1(ACAN):c.1425del (p.Val478fs)deletion Pathogenic 440750 rs1555454630 15:89389109-89389109 15:88845878-88845878
8 ACAN NM_001369268.1(ACAN):c.7317G>A (p.Trp2439Ter)SNV Pathogenic 440751 rs1555457632 15:89416126-89416126 15:88872895-88872895
9 ACAN NM_001369268.1(ACAN):c.7204C>T (p.Gln2402Ter)SNV Pathogenic 440752 rs1555457525 15:89414756-89414756 15:88871525-88871525
10 ACAN NM_001369268.1(ACAN):c.1745del (p.Phe582fs)deletion Pathogenic 440753 rs1555455057 15:89392680-89392680 15:88849449-88849449
11 ACAN NM_001369268.1(ACAN):c.2541del (p.Val848fs)deletion Pathogenic 803118 15:89398352-89398352 15:88855121-88855121
12 ACAN NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met)SNV Pathogenic 14306 rs267606625 15:89416172-89416172 15:88872941-88872941
13 ACAN NM_001369268.1(ACAN):c.-7-2A>TSNV Likely pathogenic 635418 15:89379429-89379429 15:88836198-88836198
14 ACAN NM_001369268.1(ACAN):c.1955C>T (p.Thr652Met)SNV Uncertain significance 873431 15:89392891-89392891 15:88849660-88849660
15 ACAN NM_001369268.1(ACAN):c.7358A>T (p.Asp2453Val)SNV Uncertain significance 252934 rs879255506 15:89416167-89416167 15:88872936-88872936
16 ACAN NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn)SNV Uncertain significance 444004 rs1555454545 15:89388877-89388877 15:88845646-88845646
17 ACAN NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys)SNV Likely benign 803117 15:89386741-89386741 15:88843510-88843510
18 ACAN NM_001369268.1(ACAN):c.230G>A (p.Arg77His)SNV Benign/Likely benign 446080 rs199701329 15:89382053-89382053 15:88838822-88838822
19 ACAN NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln)SNV Benign 803116 15:89386652-89386652 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:

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....