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 ²⁰ ⁵⁸ ⁷³ ²⁹ ¹³ ⁶

Semd, Aggrecan Type ⁵⁷ ²⁰ ⁵⁸

Semdag ⁵⁷ 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®:

⁵⁷ (Updated 05-Mar-2021)

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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 612813

MeSH ⁴⁴ D001848

ICD10 via Orphanet ³³ Q77.7

UMLS via Orphanet ⁷² C2748544

Orphanet ⁵⁸ ORPHA171866

MedGen ⁴¹ C2748544

SNOMED-CT via HPO ⁶⁸ 109504005 17790008 22810007 more

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Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171866DefinitionSpondyloepimetaphyseal 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 spondyloepimetaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). 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

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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	spondyloepimetaphyseal dysplasia	10.2

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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

⁵⁸ ³¹ (show all 25)

#	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	abnormal respiratory system physiology ³¹	frequent (33%)		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	functional respiratory abnormality ⁵⁸		Frequent (79-30%)
25	bronchospasm ³¹			HP:0025428

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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

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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. ⁶ ⁵⁷ ⁶¹	Fukuhara Y...Nishimura G	30124491	2019
2	A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. ⁵⁷ ⁶	Tompson SW...Krakow D	19110214	2009
3	Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. ⁶¹	Sentchordi-Montane L...Heath KE	29464738	2018

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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	PubMed IDs
1	ACAN	Aggrecan	Protein Coding	1668.04	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19110214

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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.7255G>A (p.Asp2419Asn)	SNV	Pathogenic	14305	rs121913568	15:89415269-89415269	15:88872038-88872038
2	ACAN	NM_001369268.1(ACAN):c.4138G>T (p.Val1380Phe)	SNV	Pathogenic	618999	rs1567185220	15:89399954-89399954	15:88856723-88856723
3	ACAN	NM_001369268.1(ACAN):c.5061T>A (p.Ser1687Arg)	SNV	Pathogenic	619000	rs1567186585	15:89400877-89400877	15:88857646-88857646
4	ACAN	NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp)	SNV	Uncertain significance	800829	rs34124958	15:89401362-89401362	15:88858131-88858131
5	ACAN	NM_001369268.1(ACAN):c.37del (p.Val13fs)	Deletion	Uncertain significance	828193	rs1596128744	15:89379472-89379472	15:88836241-88836241
6	ACAN	NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr)	SNV	Uncertain significance	828194	rs1596148604	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

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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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Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

¹ BioSystems

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³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

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²⁰ GARD

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spondyloepimetaphyseal Dysplasia, Aggrecan Type (SEMDAG)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Articles related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Genes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

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

Expression for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Pathways for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type