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 53 49 55 71 28 13
Semd, Aggrecan Type 53 49 55
Semdag 53 71
Semd Aggrecan Type 71

Characteristics:

Orphanet epidemiological data:

55
spondyloepimetaphyseal dysplasia, aggrecan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:



External Ids:

OMIM 53 612813
Orphanet 55 ORPHA171866
UMLS via Orphanet 70 C2748544
ICD10 via Orphanet 33 Q77.7
MedGen 39 C2748544
MeSH 41 D001848

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

NIH Rare Diseases : 49 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. Last updated: 10/15/2009

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to skeletal dysplasias, and has symptoms including joint laxity, short neck and mandibular prognathia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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:

53
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:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint laxity 55 31 very rare (1%) Very frequent (99-80%) HP:0001388
2 short neck 55 31 very rare (1%) Very frequent (99-80%) HP:0000470
3 mandibular prognathia 55 31 very rare (1%) Very frequent (99-80%) HP:0000303
4 broad thumb 55 31 very rare (1%) Very frequent (99-80%) HP:0011304
5 abnormality of the nail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001597
6 rhizomelia 55 31 very rare (1%) Very frequent (99-80%) HP:0008905
7 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
8 functional respiratory abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002795
9 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 hoarse voice 55 31 very rare (1%) Frequent (79-30%) HP:0001609
11 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
12 relative macrocephaly 55 31 very rare (1%) Very frequent (99-80%) HP:0004482
13 absent nasal bridge 55 31 very rare (1%) Very frequent (99-80%) HP:0005285
14 posteriorly rotated ears 55 31 very rare (1%) Very frequent (99-80%) HP:0000358
15 barrel-shaped chest 55 31 very rare (1%) Very frequent (99-80%) HP:0001552
16 lumbar hyperlordosis 55 31 very rare (1%) Very frequent (99-80%) HP:0002938
17 mesomelia 55 31 very rare (1%) Very frequent (99-80%) HP:0003027
18 malar flattening 31 very rare (1%) HP:0000272
19 low-set ears 31 very rare (1%) HP:0000369
20 short finger 31 very rare (1%) HP:0009381
21 spondyloepimetaphyseal dysplasia 31 HP:0002651

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

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

38
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:

71
# Symbol AA change Variation ID SNP ID
1 ACAN p.Asp2266Asn VAR_063053

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

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

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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69 UMLS
70 UMLS via Orphanet
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