SEMDAG
MCID: SPN136
MIFTS: 29

Spondyloepimetaphyseal Dysplasia, Aggrecan Type (SEMDAG)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type 57 19 58 73 28 12 5
Semd, Aggrecan Type 57 19 58
Semdag 57 73
Dysplasia, Spondyloepimetaphyseal, Aggrecan Type 38
Semd Aggrecan Type 73

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
one family from zacatecas, mexico has been described (last curated august 2017)


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 612813
MeSH 43 D001848
ICD10 via Orphanet 32 Q77.7
UMLS via Orphanet 72 C2748544
Orphanet 58 ORPHA171866
MedGen 40 C2748544

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

UniProtKB/Swiss-Prot: 73 A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to spondyloepimetaphyseal dysplasia and osteochondrodysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone, and related phenotypes are short neck and mandibular prognathia

GARD: 19 Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Orphanet: 58 Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

More information from OMIM: 612813

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia 10.2
2 osteochondrodysplasia 10.2

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

58 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000470
2 mandibular prognathia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000303
3 broad thumb 58 30 Very rare (1%) Very frequent (99-80%)
HP:0011304
4 abnormality of the nail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001597
5 joint laxity 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001388
6 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
7 low-set, posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000368
8 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011800
9 lumbar hyperlordosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002938
10 relative macrocephaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0004482
11 rhizomelia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0008905
12 mesomelia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003027
13 absent nasal bridge 58 30 Very rare (1%) Very frequent (99-80%)
HP:0005285
14 barrel-shaped chest 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001552
15 hoarse voice 58 30 Very rare (1%) Frequent (79-30%)
HP:0001609
16 abnormal respiratory system physiology 30 Frequent (33%) HP:0002795
17 malar flattening 30 Very rare (1%) HP:0000272
18 short finger 30 Very rare (1%) HP:0009381
19 platyspondyly 30 HP:0000926
20 posteriorly rotated ears 58 Very frequent (99-80%)
21 irregular epiphyses 30 HP:0010582
22 metaphyseal widening 30 HP:0003016
23 spondyloepimetaphyseal dysplasia 30 HP:0002651
24 functional respiratory abnormality 58 Frequent (79-30%)
25 bronchospasm 30 HP:0025428

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Neck:
short neck

Skeletal Spine:
platyspondyly
lumbar lordosis, mild
multiple cervical-vertebral clefts

Skeletal Limbs:
rhizomelia
mesomelia
irregular epiphyses
widened metaphyses

Chest External Features:
barrel-shaped chest

Head And Neck Head:
macrocephaly, relative

Growth Height:
short stature, disproportionate (adult height 26-28 inches)

Respiratory Airways:
bronchospasm (in 1 patient)

Skin Nails Hair Nails:
horizontal nail beds

Skeletal Hands:
brachydactyly
accessory carpal ossification centers
short, broad thumbs
telescoping interphalangeal joints

Voice:
hoarse voice

Head And Neck Nose:
absent nasal bridge

Head And Neck Face:
midface hypoplasia
prognathism, relative

Head And Neck Ears:
low-set posteriorly rotated ears

Growth Other:
upper/lower segment ratio 1.1-1.2

Skeletal:
spondyloepimetaphyseal dysplasia (semd)
joint laxity (especially hands)

Clinical features from OMIM®:

612813 (Updated 24-Oct-2022)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 28 ACAN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

MalaCards : Bone

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Articles related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

# Title Authors PMID Year
1
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. 62 57 5
30124491 2019
2
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 62 57 5
19110214 2009
3
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 62
29464738 2018

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

5 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACAN NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn) SNV Pathogenic
14305 rs121913568 GRCh37: 15:89415269-89415269
GRCh38: 15:88872038-88872038
2 ACAN NM_001369268.1(ACAN):c.4138G>T (p.Val1380Phe) SNV Pathogenic
618999 rs1567185220 GRCh37: 15:89399954-89399954
GRCh38: 15:88856723-88856723
3 ACAN NM_001369268.1(ACAN):c.5061T>A (p.Ser1687Arg) SNV Pathogenic
619000 rs1567186585 GRCh37: 15:89400877-89400877
GRCh38: 15:88857646-88857646
4 ACAN NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp) SNV Uncertain Significance
800829 rs34124958 GRCh37: 15:89401362-89401362
GRCh38: 15:88858131-88858131
5 ACAN NM_001369268.1(ACAN):c.37del (p.Val13fs) DEL Uncertain Significance
828193 rs1596128744 GRCh37: 15:89379472-89379472
GRCh38: 15:88836241-88836241
6 ACAN NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr) SNV Uncertain Significance
828194 rs1596148604 GRCh37: 15:89402513-89402513
GRCh38: 15:88859282-88859282
7 ACAN NM_001369268.1(ACAN):c.5434G>A (p.Val1812Ile) SNV Uncertain Significance
1034408 rs1897100294 GRCh37: 15:89401250-89401250
GRCh38: 15:88858019-88858019
8 ACAN NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala) SNV Uncertain Significance
1679571 GRCh37: 15:89398355-89398355
GRCh38: 15:88855124-88855124
9 ACAN NM_001369268.1(ACAN):c.6113C>T (p.Thr2038Ile) SNV Uncertain Significance
287741 rs149083251 GRCh37: 15:89401929-89401929
GRCh38: 15:88858698-88858698
10 ACAN NM_001369268.1(ACAN):c.1575C>G (p.Asp525Glu) SNV Uncertain Significance
1027792 rs367724066 GRCh37: 15:89390619-89390619
GRCh38: 15:88847388-88847388
11 ACAN NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) SNV Benign
1098867 GRCh37: 15:89415247-89415247
GRCh38: 15:88872016-88872016
12 ACAN NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln) SNV Benign
803116 rs34949187 GRCh37: 15:89386652-89386652
GRCh38: 15:88843421-88843421
13 ACAN NM_001369268.1(ACAN):c.1623C>A (p.Pro541=) SNV Benign
1188849 GRCh37: 15:89391160-89391160
GRCh38: 15:88847929-88847929
14 ACAN NM_001369268.1(ACAN):c.7631-7G>A SNV Benign
1188850 GRCh37: 15:89417629-89417629
GRCh38: 15:88874398-88874398
15 ACAN NM_001369268.1(ACAN):c.1809T>C (p.Ala603=) SNV Benign
284980 rs1568116 GRCh37: 15:89392745-89392745
GRCh38: 15:88849514-88849514
16 ACAN NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg) SNV Benign
1174934 GRCh37: 15:89417238-89417238
GRCh38: 15:88874007-88874007
17 ACAN NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) SNV Benign
283854 rs190361551 GRCh37: 15:89417149-89417149
GRCh38: 15:88873918-88873918
18 ACAN NM_001369268.1(ACAN):c.2037G>A (p.Ala679=) SNV Benign
283926 rs372553119 GRCh37: 15:89395035-89395035
GRCh38: 15:88851804-88851804
19 ACAN NM_001369268.1(ACAN):c.1530G>A (p.Pro510=) SNV Benign
284338 rs34637731 GRCh37: 15:89390574-89390574
GRCh38: 15:88847343-88847343
20 ACAN NM_001369268.1(ACAN):c.1866C>T (p.Cys622=) SNV Benign
284340 rs35652696 GRCh37: 15:89392802-89392802
GRCh38: 15:88849571-88849571
21 ACAN NM_001369268.1(ACAN):c.1850G>A (p.Arg617His) SNV Benign
284346 rs34616796 GRCh37: 15:89392786-89392786
GRCh38: 15:88849555-88849555
22 ACAN NM_001369268.1(ACAN):c.1515G>A (p.Ala505=) SNV Benign
284347 rs34957282 GRCh37: 15:89390559-89390559
GRCh38: 15:88847328-88847328
23 ACAN NM_001369268.1(ACAN):c.186C>T (p.Thr62=) SNV Benign
287638 rs191648646 GRCh37: 15:89382009-89382009
GRCh38: 15:88838778-88838778
24 ACAN NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) SNV Benign
623875 rs181736584 GRCh37: 15:89389050-89389050
GRCh38: 15:88845819-88845819
25 ACAN NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) SNV Benign
768723 rs35676128 GRCh37: 15:89401825-89401825
GRCh38: 15:88858594-88858594
26 ACAN NM_001369268.1(ACAN):c.438G>A (p.Leu146=) SNV Benign
774946 rs35600223 GRCh37: 15:89382261-89382261
GRCh38: 15:88839030-88839030
27 ACAN NM_001369268.1(ACAN):c.1398C>T (p.Thr466=) SNV Benign
779449 rs185960535 GRCh37: 15:89389082-89389082
GRCh38: 15:88845851-88845851
28 ACAN NM_001369268.1(ACAN):c.1719A>G (p.Val573=) SNV Benign
786631 rs57669733 GRCh37: 15:89391256-89391256
GRCh38: 15:88848025-88848025
29 ACAN NM_001369268.1(ACAN):c.2247G>A (p.Val749=) SNV Benign
788898 rs137972043 GRCh37: 15:89395245-89395245
GRCh38: 15:88852014-88852014
30 ACAN NM_001369268.1(ACAN):c.204A>C (p.Pro68=) SNV Benign
790874 rs372041880 GRCh37: 15:89382027-89382027
GRCh38: 15:88838796-88838796
31 ACAN NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) SNV Benign
1205871 GRCh37: 15:89390513-89390513
GRCh38: 15:88847282-88847282
32 ACAN NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) SNV Benign
1206050 GRCh37: 15:89388894-89388894
GRCh38: 15:88845663-88845663
33 ACAN NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) SNV Benign
1206136 GRCh37: 15:89392689-89392689
GRCh38: 15:88849458-88849458
34 ACAN NM_001369268.1(ACAN):c.1051+9C>T SNV Benign
1206168 GRCh37: 15:89386888-89386888
GRCh38: 15:88843657-88843657
35 ACAN NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) SNV Benign
1206324 GRCh37: 15:89392818-89392818
GRCh38: 15:88849587-88849587
36 ACAN NM_001369268.1(ACAN):c.1221C>T (p.Val407=) SNV Benign
1206376 GRCh37: 15:89388905-89388905
GRCh38: 15:88845674-88845674
37 ACAN NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) SNV Benign
1206411 GRCh37: 15:89382129-89382129
GRCh38: 15:88838898-88838898
38 ACAN NM_001369268.1(ACAN):c.1051+10G>A SNV Benign
1214370 GRCh37: 15:89386889-89386889
GRCh38: 15:88843658-88843658
39 ACAN NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) SNV Benign
1293770 GRCh37: 15:89390520-89390520
GRCh38: 15:88847289-88847289
40 ACAN NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile) SNV Benign
1188886 GRCh37: 15:89398605-89398605
GRCh38: 15:88855374-88855374
41 ACAN NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr) SNV Benign
1174760 GRCh37: 15:89398631-89398631
GRCh38: 15:88855400-88855400
42 ACAN NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala) SNV Benign
1174779 GRCh37: 15:89400023-89400023
GRCh38: 15:88856792-88856792
43 ACAN NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val) SNV Benign
1188935 GRCh37: 15:89402051-89402051
GRCh38: 15:88858820-88858820
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.2591C>T (p.Pro864Leu) SNV Benign
1229794 GRCh37: 15:89398407-89398407
GRCh38: 15:88855176-88855176
46 ACAN NM_001369268.1(ACAN):c.757+53T>G SNV Benign
1247326 GRCh37: 15:89385151-89385151
GRCh38: 15:88841920-88841920
47 ACAN NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr) SNV Benign
1263931 GRCh37: 15:89398553-89398553
GRCh38: 15:88855322-88855322
48 ACAN NM_001369268.1(ACAN):c.3180C>T (p.Thr1060=) SNV Benign
1286962 GRCh37: 15:89398996-89398996
GRCh38: 15:88855765-88855765
49 ACAN NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu) SNV Benign
1691107 GRCh37: 15:89399986-89399986
GRCh38: 15:88856755-88856755
50 ACAN NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu) SNV Benign
1691108 GRCh37: 15:89414671-89414671
GRCh38: 15:88871440-88871440

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

73
# Symbol AA change Variation ID SNP ID
1 ACAN p.Asp2381Asn VAR_063053 rs121913568

Expression for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Aggrecan Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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