MCID: SPN136
MIFTS: 23

Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type 57 53 59 75 29 13 6 40
Semd, Aggrecan Type 57 53 59
Semdag 57 75
Semd Aggrecan Type 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia, aggrecan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612813
Orphanet 59 ORPHA171866
UMLS via Orphanet 74 C2748544
ICD10 via Orphanet 34 Q77.7
MedGen 42 C2748544
MeSH 44 D001848

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171866Disease definitionSpondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.EpidemiologyTo date, three cases have been described, all originating from the same family.Clinical descriptionFacial 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.EtiologyThe 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 skeletal dysplasias. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone, and related phenotypes are absent nasal bridge and rhizomelia

UniProtKB/Swiss-Prot : 75 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.

Description 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 skeletal dysplasias 10.1

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Skeletal Limbs:
rhizomelia
mesomelia
irregular epiphyses
widened metaphyses

Voice:
hoarse voice

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

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

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

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent nasal bridge 59 32 very rare (1%) Very frequent (99-80%) HP:0005285
2 rhizomelia 59 32 very rare (1%) Very frequent (99-80%) HP:0008905
3 broad thumb 59 32 very rare (1%) Very frequent (99-80%) HP:0011304
4 mandibular prognathia 59 32 very rare (1%) Very frequent (99-80%) HP:0000303
5 posteriorly rotated ears 59 32 very rare (1%) Very frequent (99-80%) HP:0000358
6 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
7 short neck 59 32 very rare (1%) Very frequent (99-80%) HP:0000470
8 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
9 joint laxity 59 32 very rare (1%) Very frequent (99-80%) HP:0001388
10 barrel-shaped chest 59 32 very rare (1%) Very frequent (99-80%) HP:0001552
11 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001597
12 lumbar hyperlordosis 59 32 very rare (1%) Very frequent (99-80%) HP:0002938
13 mesomelia 59 32 very rare (1%) Very frequent (99-80%) HP:0003027
14 relative macrocephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0004482
15 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
16 hoarse voice 59 32 very rare (1%) Frequent (79-30%) HP:0001609
17 functional respiratory abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002795
18 malar flattening 32 very rare (1%) HP:0000272
19 low-set ears 32 very rare (1%) HP:0000369
20 spondyloepimetaphyseal dysplasia 32 HP:0002651
21 short finger 32 very rare (1%) HP:0009381

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:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Articles related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

# Title Authors Year
1
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. ( 19110214 )
2009

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

75
# Symbol AA change Variation ID SNP ID
1 ACAN p.Asp2381Asn VAR_063053 rs121913568

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAN NM_013227.3(ACAN): c.7141G> A (p.Asp2381Asn) single nucleotide variant Pathogenic rs121913568 GRCh37 Chromosome 15, 89415269: 89415269
2 ACAN NM_013227.3(ACAN): c.7141G> A (p.Asp2381Asn) single nucleotide variant Pathogenic rs121913568 GRCh38 Chromosome 15, 88872038: 88872038

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 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....