Spondyloepimetaphyseal Dysplasia, Aggrecan Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Spondyloepiphyseal dysplasia

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

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

SNOMED-CT via HPO ⁶⁹ 258211005 109504005 22810007 more

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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

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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

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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

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

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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

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

⁴¹

Bone

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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 )	Tompson S.W....Krakow D.	2009

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Genes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ACAN	Aggrecan	Protein Coding	1728.19	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	19110214

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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

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Expression for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

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Pathways for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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GO Terms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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