MCID: SHR106
MIFTS: 25

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

Categories: Genetic diseases, Bone 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 75
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 57 75 13 40
Familial Osteochondritis Dissecans 59 73
Ssoaod 57 75
Od 57 3
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis; Od 57
Osteochondritis Dissecans and Short Stature 59

Characteristics:

Orphanet epidemiological data:

59
familial osteochondritis dissecans
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait (in some patients)


HPO:

32
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 165800
Orphanet 59 ORPHA251262
ICD10 via Orphanet 34 M93.2
UMLS via Orphanet 74 C3665488
MeSH 44 D010008
UMLS 73 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)

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 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 abnormality of the skeletal system and growth abnormality

CDC : 3 The United States is in the midst of an opioid overdose epidemic.

UniProtKB/Swiss-Prot : 75 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 11.8

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Pelvis:
hip osteoarthritis

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 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)

Growth Other:
high ratio between sitting height and total height

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

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
Skeletal Feet:
broad halluces (in some patients)


Clinical features from OMIM:

165800

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 32 HP:0000924
2 growth abnormality 32 HP:0001507
3 waddling gait 32 HP:0002515
4 osteoarthritis 32 HP:0002758
5 short stature 32 HP:0004322
6 osteochondritis dissecans 32 HP:0010886
7 exostoses 32 HP:0100777

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:

41
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:

75
# 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.7249G> A (p.Val2417Met) single nucleotide variant Pathogenic rs267606625 GRCh37 Chromosome 15, 89416172: 89416172
2 ACAN NM_013227.3(ACAN): c.7249G> A (p.Val2417Met) single nucleotide variant Pathogenic rs267606625 GRCh38 Chromosome 15, 88872941: 88872941
3 ACAN NM_013227.3(ACAN): c.7244A> T (p.Asp2415Val) single nucleotide variant Uncertain significance rs879255506 GRCh38 Chromosome 15, 88872936: 88872936
4 ACAN NM_013227.3(ACAN): c.7244A> T (p.Asp2415Val) single nucleotide variant Uncertain significance rs879255506 GRCh37 Chromosome 15, 89416167: 89416167
5 ACAN NM_013227.3(ACAN): c.272delA (p.Arg93Alafs) deletion Pathogenic GRCh37 Chromosome 15, 89382095: 89382095
6 ACAN NM_013227.3(ACAN): c.272delA (p.Arg93Alafs) deletion Pathogenic GRCh38 Chromosome 15, 88838864: 88838864
7 ACAN NM_013227.3(ACAN): c.2026+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88849732: 88849732
8 ACAN NM_013227.3(ACAN): c.2026+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89392963: 89392963
9 ACAN NM_013227.3(ACAN): c.7064T> C (p.Leu2355Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89414730: 89414730
10 ACAN NM_013227.3(ACAN): c.7064T> C (p.Leu2355Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88871499: 88871499
11 ACAN NM_013227.3(ACAN): c.5391delG (p.Gln1798Serfs) deletion Pathogenic GRCh37 Chromosome 15, 89401207: 89401207
12 ACAN NM_013227.3(ACAN): c.5391delG (p.Gln1798Serfs) deletion Pathogenic GRCh38 Chromosome 15, 88857976: 88857976
13 ACAN NM_013227.3(ACAN): c.4657G> T (p.Glu1553Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88857242: 88857242
14 ACAN NM_013227.3(ACAN): c.4657G> T (p.Glu1553Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89400473: 89400473
15 ACAN NM_013227.3(ACAN): c.223T> C (p.Trp75Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89382046: 89382046
16 ACAN NM_013227.3(ACAN): c.223T> C (p.Trp75Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88838815: 88838815
17 ACAN NM_013227.3(ACAN): c.1425delA (p.Val478Serfs) deletion Pathogenic GRCh38 Chromosome 15, 88845878: 88845878
18 ACAN NM_013227.3(ACAN): c.1425delA (p.Val478Serfs) deletion Pathogenic GRCh37 Chromosome 15, 89389109: 89389109
19 ACAN NM_013227.3(ACAN): c.7203G> A (p.Trp2401Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88872895: 88872895
20 ACAN NM_013227.3(ACAN): c.7203G> A (p.Trp2401Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89416126: 89416126
21 ACAN NM_013227.3(ACAN): c.7090C> T (p.Gln2364Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89414756: 89414756
22 ACAN NM_013227.3(ACAN): c.7090C> T (p.Gln2364Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88871525: 88871525
23 ACAN NM_013227.3(ACAN): c.1744delT (p.Phe582Serfs) deletion Pathogenic GRCh37 Chromosome 15, 89392680: 89392680
24 ACAN NM_013227.3(ACAN): c.1744delT (p.Phe582Serfs) deletion Pathogenic GRCh38 Chromosome 15, 88849449: 88849449
25 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 89388877: 89388877
26 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 88845646: 88845646
27 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh37 Chromosome 15, 89388840: 89388840
28 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh38 Chromosome 15, 88845609: 88845609

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....