SSOAOD
MCID: SHR106
MIFTS: 27

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

Categories: Bone 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 58 76
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 58 76 13 41
Familial Osteochondritis Dissecans 60 74
Ssoaod 58 76
Od 58 3
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis; Od 58
Osteochondritis Dissecans and Short Stature 60

Characteristics:

Orphanet epidemiological data:

60
familial osteochondritis dissecans
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait (in some patients)


HPO:

33
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 165800
MeSH 45 D010008
ICD10 via Orphanet 35 M93.2
UMLS via Orphanet 75 C3665488
Orphanet 60 ORPHA251262
UMLS 74 C3665488

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

OMIM : 58 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 brachydactyly and midface retrusion

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UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 familial osteochondritis dissecans 11.9
2 osteochondritis dissecans 11.8
3 idiopathic avascular necrosis 10.7
4 osteochondrosis 10.7
5 carpal tunnel syndrome 10.2
6 mononeuropathy of the median nerve, mild 10.2
7 osteoarthritis 10.2
8 dwarfism 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:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 33 very rare (1%) HP:0001156
2 midface retrusion 33 very rare (1%) HP:0011800
3 lumbar hyperlordosis 33 very rare (1%) HP:0002938
4 short thumb 33 very rare (1%) HP:0009778
5 frontal bossing 33 HP:0002007
6 osteoarthritis 33 HP:0002758
7 short stature 33 HP:0004322
8 exostoses 33 HP:0100777
9 waddling gait 33 HP:0002515
10 accelerated skeletal maturation 33 HP:0005616
11 osteochondritis dissecans 33 HP:0010886
12 growth abnormality 33 HP:0001507

Symptoms via clinical synopsis from OMIM:

58
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:

42
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 11)
# Title Authors Year
1
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. ( 27388238 )
2016
2
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. ( 20137779 )
2010
3
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. ( 18226555 )
2008
4
Familial osteochondritis dissecans. ( 2259663 )
1990
5
Familial osteochondritis dissecans. ( 2791462 )
1989
6
Familial osteochondritis dissecans: a dysplasia of articular cartilage? ( 3992264 )
1985
7
Familial osteochondritis dissecans and dwarfism. ( 7331787 )
1981
8
Familial osteochondritis dissecans of the knee. ( 477064 )
1979
9
Familial osteochondritis dissecans and carpal tunnel syndrome. ( 532581 )
1979
10
Familial osteochondritis dissecans with associated tibia vara. ( 13475409 )
1957
11
Familial osteochondritis dissecans. ( 14353963 )
1955

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

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

76
# Symbol AA change Variation ID SNP ID
1 ACAN p.Val2418Met VAR_063765 rs779794758

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

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAN NM_013227.3(ACAN): c.7244A> T (p.Asp2415Val) single nucleotide variant Uncertain significance rs879255506 GRCh38 Chromosome 15, 88872936: 88872936
2 ACAN NM_013227.3(ACAN): c.7244A> T (p.Asp2415Val) single nucleotide variant Uncertain significance rs879255506 GRCh37 Chromosome 15, 89416167: 89416167
3 ACAN NM_001135.3(ACAN): c.272delA (p.Arg93Alafs) deletion Pathogenic rs1555453708 GRCh37 Chromosome 15, 89382095: 89382095
4 ACAN NM_001135.3(ACAN): c.272delA (p.Arg93Alafs) deletion Pathogenic rs1555453708 GRCh38 Chromosome 15, 88838864: 88838864
5 ACAN NM_013227.3(ACAN): c.2026+1G> A single nucleotide variant Pathogenic rs1555455127 GRCh38 Chromosome 15, 88849732: 88849732
6 ACAN NM_013227.3(ACAN): c.2026+1G> A single nucleotide variant Pathogenic rs1555455127 GRCh37 Chromosome 15, 89392963: 89392963
7 ACAN NM_013227.3(ACAN): c.7064T> C (p.Leu2355Pro) single nucleotide variant Pathogenic rs1555457513 GRCh37 Chromosome 15, 89414730: 89414730
8 ACAN NM_013227.3(ACAN): c.7064T> C (p.Leu2355Pro) single nucleotide variant Pathogenic rs1555457513 GRCh38 Chromosome 15, 88871499: 88871499
9 ACAN NM_013227.3(ACAN): c.5391delG (p.Gln1798Serfs) deletion Pathogenic rs1555456230 GRCh37 Chromosome 15, 89401207: 89401207
10 ACAN NM_013227.3(ACAN): c.5391delG (p.Gln1798Serfs) deletion Pathogenic rs1555456230 GRCh38 Chromosome 15, 88857976: 88857976
11 ACAN NM_013227.3(ACAN): c.4657G> T (p.Glu1553Ter) single nucleotide variant Pathogenic rs1555456128 GRCh38 Chromosome 15, 88857242: 88857242
12 ACAN NM_013227.3(ACAN): c.4657G> T (p.Glu1553Ter) single nucleotide variant Pathogenic rs1555456128 GRCh37 Chromosome 15, 89400473: 89400473
13 ACAN NM_013227.3(ACAN): c.223T> C (p.Trp75Arg) single nucleotide variant Pathogenic rs1555453695 GRCh37 Chromosome 15, 89382046: 89382046
14 ACAN NM_013227.3(ACAN): c.223T> C (p.Trp75Arg) single nucleotide variant Pathogenic rs1555453695 GRCh38 Chromosome 15, 88838815: 88838815
15 ACAN NM_013227.3(ACAN): c.1425delA (p.Val478Serfs) deletion Pathogenic rs1555454630 GRCh38 Chromosome 15, 88845878: 88845878
16 ACAN NM_013227.3(ACAN): c.1425delA (p.Val478Serfs) deletion Pathogenic rs1555454630 GRCh37 Chromosome 15, 89389109: 89389109
17 ACAN NM_013227.3(ACAN): c.7203G> A (p.Trp2401Ter) single nucleotide variant Pathogenic rs1555457632 GRCh38 Chromosome 15, 88872895: 88872895
18 ACAN NM_013227.3(ACAN): c.7203G> A (p.Trp2401Ter) single nucleotide variant Pathogenic rs1555457632 GRCh37 Chromosome 15, 89416126: 89416126
19 ACAN NM_013227.3(ACAN): c.7090C> T (p.Gln2364Ter) single nucleotide variant Pathogenic rs1555457525 GRCh37 Chromosome 15, 89414756: 89414756
20 ACAN NM_013227.3(ACAN): c.7090C> T (p.Gln2364Ter) single nucleotide variant Pathogenic rs1555457525 GRCh38 Chromosome 15, 88871525: 88871525
21 ACAN NM_013227.3(ACAN): c.1744delT (p.Phe582Serfs) deletion Pathogenic rs1555455057 GRCh37 Chromosome 15, 89392680: 89392680
22 ACAN NM_013227.3(ACAN): c.1744delT (p.Phe582Serfs) deletion Pathogenic rs1555455057 GRCh38 Chromosome 15, 88849449: 88849449
23 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance rs1555454545 GRCh37 Chromosome 15, 89388877: 89388877
24 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance rs1555454545 GRCh38 Chromosome 15, 88845646: 88845646
25 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh37 Chromosome 15, 89388840: 89388840
26 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh38 Chromosome 15, 88845609: 88845609
27 ACAN NM_013227.3(ACAN): c.7249G> A (p.Val2417Met) single nucleotide variant Pathogenic rs267606625 GRCh38 Chromosome 15, 88872941: 88872941
28 ACAN NM_013227.3(ACAN): c.7249G> A (p.Val2417Met) single nucleotide variant Pathogenic rs267606625 GRCh37 Chromosome 15, 89416172: 89416172

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...

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75 UMLS via Orphanet
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