SEMDAG
MCID: SPN136
MIFTS: 25

Spondyloepimetaphyseal Dysplasia, Aggrecan Type (SEMDAG)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type 56 52 58 73 29 13 6
Semd, Aggrecan Type 56 52 58
Semdag 56 73
Dysplasia, Spondyloepimetaphyseal, Aggrecan Type 39
Semd Aggrecan Type 73

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia, aggrecan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one family from zacatecas, mexico has been described (last curated august 2017)


HPO:

31
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 612813
MeSH 43 D001848
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C2748544
Orphanet 58 ORPHA171866
MedGen 41 C2748544

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171866 Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature , facial dysmorphism and characteristic radiographic findings. Epidemiology To date, three cases have been described, all originating from the same family. Clinical description Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly . Etiology The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene ; chromosome 15) which regulates endochondral ossification. Transmission is autosomal-recessive. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related. 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

UniProtKB/Swiss-Prot : 73 Spondyloepimetaphyseal dysplasia, aggrecan type: 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.

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, matrilin-3 related 10.3

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 very rare (1%) Very frequent (99-80%) HP:0000470
2 mandibular prognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000303
3 broad thumb 58 31 very rare (1%) Very frequent (99-80%) HP:0011304
4 abnormality of the nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001597
5 joint laxity 58 31 very rare (1%) Very frequent (99-80%) HP:0001388
6 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
8 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
9 rhizomelia 58 31 very rare (1%) Very frequent (99-80%) HP:0008905
10 relative macrocephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0004482
11 mesomelia 58 31 very rare (1%) Very frequent (99-80%) HP:0003027
12 lumbar hyperlordosis 58 31 very rare (1%) Very frequent (99-80%) HP:0002938
13 barrel-shaped chest 58 31 very rare (1%) Very frequent (99-80%) HP:0001552
14 absent nasal bridge 58 31 very rare (1%) Very frequent (99-80%) HP:0005285
15 hoarse voice 58 31 very rare (1%) Frequent (79-30%) HP:0001609
16 functional respiratory abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002795
17 malar flattening 31 very rare (1%) HP:0000272
18 short finger 31 very rare (1%) HP:0009381
19 platyspondyly 31 HP:0000926
20 posteriorly rotated ears 58 Very frequent (99-80%)
21 irregular epiphyses 31 HP:0010582
22 metaphyseal widening 31 HP:0003016
23 spondyloepimetaphyseal dysplasia 31 HP:0002651
24 bronchospasm 31 HP:0025428

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

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

Skeletal Limbs:
rhizomelia
mesomelia
irregular epiphyses
widened metaphyses

Head And Neck Nose:
absent nasal bridge

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

Chest External Features:
barrel-shaped chest

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

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 29 ACAN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

40
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. 61 6 56
30124491 2019
2
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 6 56
19110214 2009
3
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 61
29464738 2018

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACAN NM_001369268.1(ACAN):c.4138G>T (p.Val1380Phe)SNV Pathogenic 618999 rs1567185220 15:89399954-89399954 15:88856723-88856723
2 ACAN NM_001369268.1(ACAN):c.5061T>A (p.Ser1687Arg)SNV Pathogenic 619000 rs1567186585 15:89400877-89400877 15:88857646-88857646
3 ACAN NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn)SNV Pathogenic 14305 rs121913568 15:89415269-89415269 15:88872038-88872038
4 ACAN NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp)SNV Uncertain significance 800829 15:89401362-89401362 15:88858131-88858131
5 ACAN NM_001369268.1(ACAN):c.37del (p.Val13fs)deletion Uncertain significance 828193 15:89379472-89379472 15:88836241-88836241
6 ACAN NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr)SNV Uncertain significance 828194 15:89402513-89402513 15:88859282-88859282

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

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
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