Spondyloperipheral Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPD MCID: SPN154 MIFTS: 32	Spondyloperipheral Dysplasia (SPD) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spondyloperipheral Dysplasia

MalaCards integrated aliases for Spondyloperipheral Dysplasia:

Name: Spondyloperipheral Dysplasia ⁵⁶ ⁵² ²⁵ ⁷³ ¹³

Spondyloperipheral Dysplasia-Short Ulna Syndrome ⁵⁸ ²⁹ ⁶

Spondyloperipheral Dysplasia with Short Ulna ⁵⁶ ⁵² ²⁵

Spd ²⁵ ⁷³

Spondyloperipheral Dysplasia Short Ulna ⁷¹

Dysplasia, Spondyloperipheral ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

spondyloperipheral dysplasia-short ulna syndrome
Inheritance: Autosomal dominant;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

spondyloperipheral dysplasia:
Inheritance autosomal dominant 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 ⁵⁶ 271700

MESH via Orphanet ⁴⁴ C535799

ICD10 via Orphanet ³³ Q77.7

UMLS via Orphanet ⁷² C0796173

Orphanet ⁵⁸ ORPHA1856

MedGen ⁴¹ C0796173

SNOMED-CT via HPO ⁶⁸ 205101001 237836003 24228002 more

UMLS ⁷¹ C0796173

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Summaries for Spondyloperipheral Dysplasia

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1856 Definition Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype , typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature . Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss , and intellectual disability . Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloperipheral Dysplasia, also known as spondyloperipheral dysplasia-short ulna syndrome, is related to synpolydactyly and synpolydactyly 1. An important gene associated with Spondyloperipheral Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are platyspondyly and type e brachydactyly

Genetics Home Reference : ²⁵ Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.

UniProtKB/Swiss-Prot : ⁷³ Spondyloperipheral dysplasia: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.

Wikipedia : ⁷⁴ Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is... more...

More information from OMIM: 271700

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Related Diseases for Spondyloperipheral Dysplasia

Diseases related to Spondyloperipheral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)

#	Related Disease	Score
1	synpolydactyly	12.2
2	synpolydactyly 1	12.1
3	subcorneal pustular dermatosis	12.0
4	synpolydactyly 2	11.5
5	isolated delta-storage pool disease	11.4
6	schizoid personality disorder	11.2
7	synpolydactyly 3	11.2
8	brachydactyly	10.6
9	status epilepticus	10.4
10	spondyloepiphyseal dysplasia with congenital joint dislocations	10.3
11	platyspondylic lethal skeletal dysplasia, torrance type	10.2
12	chromosome 2q35 duplication syndrome	10.2
13	branchiootic syndrome 1	10.2
14	type ii collagen disorders	10.2
15	skeletal dysplasias	10.2
16	neural tube defects	10.2
17	storage pool platelet disease	10.2
18	anxiety	10.2
19	visual epilepsy	10.2
20	seizure disorder	10.2
21	migraine with or without aura 1	10.0
22	prostate cancer	10.0
23	lung cancer	10.0
24	central cloudy dystrophy of francois	10.0
25	jumping frenchmen of maine	10.0
26	pancreatic cancer	10.0
27	yemenite deaf-blind hypopigmentation syndrome	10.0
28	kala-azar 1	10.0
29	major depressive disorder	10.0
30	major affective disorder 8	10.0
31	major affective disorder 9	10.0
32	myelomeningocele	10.0
33	hyperekplexia	10.0
34	hypoparathyroidism	10.0
35	cystic echinococcosis	10.0
36	echinococcosis	10.0
37	mental depression	10.0
38	acute pancreatitis	10.0
39	bipolar disorder	10.0
40	hermansky-pudlak syndrome	10.0
41	pancreatitis	10.0
42	neuroblastoma	10.0
43	peritonitis	10.0
44	night blindness	10.0
45	myeloid leukemia	10.0
46	leishmaniasis	10.0
47	visceral leishmaniasis	10.0
48	waardenburg's syndrome	10.0
49	exencephaly	10.0
50	precocious puberty	10.0

Graphical network of the top 20 diseases related to Spondyloperipheral Dysplasia:

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Symptoms & Phenotypes for Spondyloperipheral Dysplasia

Human phenotypes related to Spondyloperipheral Dysplasia:

⁵⁸ ³¹ (show top 50) (show all 57)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	platyspondyly ⁵⁸ ³¹	hallmark (90%)	Occasional (29-5%)	HP:0000926
2	type e brachydactyly ⁵⁸ ³¹	hallmark (90%)	Frequent (79-30%)	HP:0005863
3	short stature ³¹	hallmark (90%)		HP:0004322
4	abnormality of the metaphysis ³¹	hallmark (90%)		HP:0000944
5	short metacarpal ³¹	hallmark (90%)		HP:0010049
6	cone-shaped epiphysis ³¹	hallmark (90%)		HP:0010579
7	hypoplasia of the ulna ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003022
8	abnormality of pelvic girdle bone morphology ³¹	frequent (33%)		HP:0002644
9	micromelia ³¹	frequent (33%)		HP:0002983
10	limitation of joint mobility ³¹	frequent (33%)		HP:0001376
11	abnormality of vertebral epiphysis morphology ³¹	frequent (33%)		HP:0100734
12	pectus carinatum ³¹	occasional (7.5%)		HP:0000768
13	short metatarsal ⁵⁸ ³¹		Occasional (29-5%)	HP:0010743
14	limited elbow extension ⁵⁸ ³¹		Occasional (29-5%)	HP:0001377
15	hearing impairment ⁵⁸		Frequent (79-30%)
16	cataract ⁵⁸		Occasional (29-5%)
17	hip dysplasia ⁵⁸		Occasional (29-5%)
18	kyphosis ³¹			HP:0002808
19	sensorineural hearing impairment ³¹			HP:0000407
20	broad thumb ³¹			HP:0011304
21	ovoid vertebral bodies ⁵⁸		Occasional (29-5%)
22	cleft palate ⁵⁸		Frequent (79-30%)
23	myopia ⁵⁸		Frequent (79-30%)
24	short toe ³¹			HP:0001831
25	retinal detachment ⁵⁸		Occasional (29-5%)
26	brachydactyly ³¹			HP:0001156
27	talipes ⁵⁸		Occasional (29-5%)
28	malar flattening ³¹			HP:0000272
29	short thumb ³¹			HP:0009778
30	short distal phalanx of finger ³¹			HP:0009882
31	midface retrusion ³¹			HP:0011800
32	short foot ³¹			HP:0001773
33	broad palm ³¹			HP:0001169
34	disproportionate short stature ⁵⁸		Frequent (79-30%)
35	cone-shaped epiphyses of the phalanges of the hand ³¹			HP:0010230
36	flattened epiphysis ⁵⁸		Frequent (79-30%)
37	flat acetabular roof ³¹			HP:0003180
38	flattened femoral head ⁵⁸		Occasional (29-5%)
39	irregular epiphyses ⁵⁸		Frequent (79-30%)
40	shortening of all middle phalanges of the fingers ³¹			HP:0006110
41	abnormality of the vertebral endplates ⁵⁸		Frequent (79-30%)
42	flat capital femoral epiphysis ³¹			HP:0003370
43	barrel-shaped chest ³¹			HP:0001552
44	spondyloepiphyseal dysplasia ³¹			HP:0002655
45	broad hallux ⁵⁸		Occasional (29-5%)
46	delayed pubic bone ossification ⁵⁸		Frequent (79-30%)
47	arthralgia of the hip ⁵⁸		Occasional (29-5%)
48	aplasia/hypoplasia involving bones of the extremities ⁵⁸		Frequent (79-30%)
49	abnormality of the hip joint ⁵⁸		Frequent (79-30%)
50	short distal phalanx of the 5th finger ³¹			HP:0004227

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Spine:
kyphosis
platyspondyly, mild
biconcave disc (fish-mouth vertebrae)

Growth Height:
short stature

Skeletal:
spondyloepiphyseal dysplasia

Skeletal Feet:
short phalanges
short feet
short metatarsals (4th)

Skeletal Pelvis:
horizontal acetabulae
flattened capital femoral epiphyses
short ilia
acetabular spurs (infancy)

Chest External Features:
pectus carinatum
barrel-shaped chest

Skeletal Limbs:
limited elbow extension
short ulna
absent styloid processes

Head And Neck Face:
midface hypoplasia
'pugilistic facies'

Skeletal Hands:
cone-shaped epiphyses
short fingers
broad hands
very short distal phalanges (2nd, 3rd, 4th, 5th)
short metacarpals (2nd, 3rd, 4th, 5th)
more

Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM:

271700

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Drugs & Therapeutics for Spondyloperipheral Dysplasia

Search Clinical Trials , NIH Clinical Center for Spondyloperipheral Dysplasia

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Genetic Tests for Spondyloperipheral Dysplasia

Genetic tests related to Spondyloperipheral Dysplasia:

#	Genetic test	Affiliating Genes
1	Spondyloperipheral Dysplasia-Short Ulna Syndrome ²⁹	COL2A1

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Anatomical Context for Spondyloperipheral Dysplasia

MalaCards organs/tissues related to Spondyloperipheral Dysplasia:

⁴⁰

Bone

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Publications for Spondyloperipheral Dysplasia

Articles related to Spondyloperipheral Dysplasia:

(show all 19)

#	Title	Authors	PMID	Year
1	Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. ⁶ ⁵⁶ ⁶¹	Zankl A...Superti-Furga A	15316962	2004
2	A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. ⁶ ⁵⁶ ⁶¹	Zabel B...Winterpacht A	8723097	1996
3	Czech dysplasia metatarsal type: another type II collagen disorder. ⁶ ⁶¹	Hoornaert KP...Mortier GR	17726487	2007
4	Spondyloperipheral dysplasia. ⁶¹ ⁵⁶	Sorge G...Lachman RS	8588574	1995
5	Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. ⁵⁶ ⁶¹	Sybert VP...Hall JG	104811	1979
6	Type II Collagen Disorders Overview ⁶	Gregersen PA...Savarirayan R	31021589	2019
7	Czech dysplasia metatarsal type. ⁶	Kozlowski K...Kuklik M	15266623	2004
8	Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. ⁶	Nishimura G...Ikegawa S	14729840	2004
9	Unique skeletal dysplasia with absence of the distal ulnae. ⁵⁶	Goldblatt J...Behari D	3425631	1987
10	Spondyloepiphyseal dysplasia. ⁵⁶	Vanek J	6405037	1983
11	A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. ⁶¹	Terhal PA...Mortier GR	25604898	2015
12	Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. ⁶¹	Zhang Z...Zhang ZL	23545312	2013
13	Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. ⁶¹	Desir J...Mortier G	22495950	2012
14	Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. ⁶¹	Bedeschi MF...Lalatta F	21356074	2011
15	Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. ⁶¹	Zankl A...Superti-Furga A	15643621	2005
16	Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects. ⁶¹	Nishimura G...Hasegawa T	12884428	2003
17	A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly. ⁶¹	Kitoh H...Lachman RS	11200993	2001
18	[Spondyloperipheral dysplasia]. ⁶¹	Nishimura G	11528970	2001
19	An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia". ⁶¹	Kelly TE...Dorst JP	407956	1977

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Genes for Spondyloperipheral Dysplasia

Genes related to Spondyloperipheral Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	1376.81	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	15266623 15316962 14729840 (more) 17726487 8723097 31021589

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Variations for Spondyloperipheral Dysplasia

ClinVar genetic disease variations for Spondyloperipheral Dysplasia:

⁶ (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	COL2A1	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	SNV	Pathogenic	17366	rs121912874	12:48372112-48372112	12:47978329-47978329
2	COL2A1	COL2A1, 5-BP DUP	duplication	Pathogenic	17380
3	COL2A1	NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)	SNV	Pathogenic	17389	rs121912889	12:48368017-48368017	12:47974234-47974234
4	COL2A1	NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)	deletion	Pathogenic	17391	rs1565664375	12:48367317-48367317	12:47973534-47973534
5	COL2A1	NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter)	SNV	Pathogenic	17392	rs121912890	12:48367875-48367875	12:47974092-47974092
6	COL2A1	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	SNV	Pathogenic	17395	rs121912893	12:48377504-48377504	12:47983721-47983721
7	COL2A1	NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	SNV	Pathogenic	195148	rs794727261	12:48393736-48393736	12:47999953-47999953
8	COL2A1	NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	SNV	Pathogenic	195742	rs121912880	12:48380136-48380136	12:47986353-47986353
9	COL2A1	NM_001844.5(COL2A1):c.3436-2A>G	SNV	Likely pathogenic	829877		12:48370352-48370352	12:47976569-47976569
10	COL2A1	NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)	SNV	Conflicting interpretations of pathogenicity	17385	rs121912886	12:48367873-48367873	12:47974090-47974090
11	COL2A1	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	SNV	Conflicting interpretations of pathogenicity	308931	rs142770543	12:48388220-48388220	12:47994437-47994437
12	COL2A1	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	SNV	Uncertain significance	547841	rs886042009	12:48374344-48374344	12:47980561-47980561

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Expression for Spondyloperipheral Dysplasia

Search GEO for disease gene expression data for Spondyloperipheral Dysplasia.

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Pathways for Spondyloperipheral Dysplasia

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GO Terms for Spondyloperipheral Dysplasia

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Sources for Spondyloperipheral Dysplasia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

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

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

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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

Spondyloperipheral Dysplasia (SPD)

Aliases & Classifications for Spondyloperipheral Dysplasia

MalaCards integrated aliases for Spondyloperipheral Dysplasia:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spondyloperipheral Dysplasia

Related Diseases for Spondyloperipheral Dysplasia

Diseases related to Spondyloperipheral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spondyloperipheral Dysplasia:

Symptoms & Phenotypes for Spondyloperipheral Dysplasia

Human phenotypes related to Spondyloperipheral Dysplasia:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spondyloperipheral Dysplasia

Genetic Tests for Spondyloperipheral Dysplasia

Genetic tests related to Spondyloperipheral Dysplasia:

Anatomical Context for Spondyloperipheral Dysplasia

MalaCards organs/tissues related to Spondyloperipheral Dysplasia:

Publications for Spondyloperipheral Dysplasia

Articles related to Spondyloperipheral Dysplasia:

Genes for Spondyloperipheral Dysplasia

Genes related to Spondyloperipheral Dysplasia (1 elite genes):

Variations for Spondyloperipheral Dysplasia

ClinVar genetic disease variations for Spondyloperipheral Dysplasia:

Expression for Spondyloperipheral Dysplasia

Pathways for Spondyloperipheral Dysplasia

GO Terms for Spondyloperipheral Dysplasia

Sources for Spondyloperipheral Dysplasia