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

SPD MCID: SPN154 MIFTS: 33	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 ⁵⁷ ⁵³ ²⁵ ⁷⁴ ²⁹ ¹³ ⁶

Spondyloperipheral Dysplasia with Short Ulna ⁵⁷ ⁵³ ²⁵

Spd ²⁵ ⁷⁴

Spondyloperipheral Dysplasia-Short Ulna Syndrome ⁵⁹

Spondyloperipheral Dysplasia Short Ulna ⁷²

Dysplasia, Spondyloperipheral ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

spondyloperipheral dysplasia-short ulna syndrome
Inheritance: Autosomal dominant;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: 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 271700

MESH via Orphanet ⁴⁵ C535799

ICD10 via Orphanet ³⁴ Q77.7

UMLS via Orphanet ⁷³ C0796173

Orphanet ⁵⁹ ORPHA1856

MedGen ⁴² C0796173

UMLS ⁷² C0796173

Sources

Summaries for Spondyloperipheral Dysplasia

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1856DefinitionSpondyloperipheral 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 with short ulna, 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 short stature and abnormality of the metaphysis

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 : ⁷⁴ Spondyloperipheral dysplasia: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.

Wikipedia : ⁷⁵ 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 58)

#	Related Disease	Score
1	synpolydactyly	12.1
2	synpolydactyly 1	12.0
3	subcorneal pustular dermatosis	11.9
4	synpolydactyly 2	11.5
5	isolated delta-storage pool disease	11.3
6	schizoid personality disorder	11.2
7	synpolydactyly 3	11.2
8	obsolete: platelet storage pool disease	11.2
9	brachydactyly	10.6
10	status epilepticus	10.4
11	spondyloepiphyseal dysplasia with congenital joint dislocations	10.3
12	platyspondylic lethal skeletal dysplasia, torrance type	10.2
13	chromosome 2q35 duplication syndrome	10.2
14	branchiootic syndrome 1	10.2
15	type ii collagen disorders	10.2
16	collagenopathy type 2 alpha 1	10.2
17	skeletal dysplasias	10.2
18	neural tube defects	10.2
19	storage pool platelet disease	10.2
20	anxiety	10.2
21	visual epilepsy	10.2
22	seizure disorder	10.2
23	migraine with or without aura 1	10.0
24	prostate cancer	10.0
25	lung cancer	10.0
26	jumping frenchmen of maine	10.0
27	neuroblastoma 1	10.0
28	pancreatic cancer	10.0
29	yemenite deaf-blind hypopigmentation syndrome	10.0
30	kala-azar 1	10.0
31	major depressive disorder	10.0
32	major affective disorder 8	10.0
33	major affective disorder 9	10.0
34	myelomeningocele	10.0
35	hyperekplexia	10.0
36	hypoparathyroidism	10.0
37	cystic echinococcosis	10.0
38	echinococcosis	10.0
39	mental depression	10.0
40	acute pancreatitis	10.0
41	bipolar disorder	10.0
42	hermansky-pudlak syndrome	10.0
43	pancreatitis	10.0
44	peritonitis	10.0
45	night blindness	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:

⁵⁹ ³² (show all 39)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
2	abnormality of the metaphysis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000944
3	platyspondyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000926
4	cone-shaped epiphysis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010579
5	short metacarpal ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010049
6	type e brachydactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005863
7	micromelia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002983
8	limitation of joint mobility ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001376
9	abnormality of pelvic girdle bone morphology ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002644
10	hypoplasia of the ulna ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003022
11	abnormality of vertebral epiphysis morphology ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100734
12	pectus carinatum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000768
13	brachydactyly ⁵⁹ ³²		Very frequent (99-80%)	HP:0001156
14	malar flattening ³²			HP:0000272
15	kyphosis ³²			HP:0002808
16	sensorineural hearing impairment ³²			HP:0000407
17	broad thumb ³²			HP:0011304
18	short foot ³²			HP:0001773
19	short toe ³²			HP:0001831
20	short thumb ³²			HP:0009778
21	midface retrusion ³²			HP:0011800
22	flat acetabular roof ³²			HP:0003180
23	short distal phalanx of finger ³²			HP:0009882
24	broad palm ³²			HP:0001169
25	cone-shaped epiphyses of the phalanges of the hand ³²			HP:0010230
26	barrel-shaped chest ³²			HP:0001552
27	limited elbow extension ³²			HP:0001377
28	short metatarsal ³²			HP:0010743
29	flat capital femoral epiphysis ³²			HP:0003370
30	shortening of all middle phalanges of the fingers ³²			HP:0006110
31	spondyloepiphyseal dysplasia ³²			HP:0002655
32	short distal phalanx of the 5th finger ³²			HP:0004227
33	shortening of all proximal phalanges of the fingers ³²			HP:0006144
34	acetabular spurs ³²			HP:0010454
35	pugilistic facies ³²			HP:0000339
36	short distal phalanx of the 3rd finger ³²			HP:0004180
37	absent styloid process of ulna ³²			HP:0005068
38	short distal phalanx of the 4th finger ³²			HP:0009290
39	short distal phalanx of the 2nd finger ³²			HP:0009566

Symptoms via clinical synopsis from OMIM:

⁵⁷

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 ²⁹	COL2A1

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Anatomical Context for Spondyloperipheral Dysplasia

MalaCards organs/tissues related to Spondyloperipheral Dysplasia:

⁴¹

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. ³⁸ ⁸ ⁷¹	Zankl A...Superti-Furga A	15316962	2004
2	A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. ³⁸ ⁸ ⁷¹	Zabel B...Winterpacht A	8723097	1996
3	Czech dysplasia metatarsal type: another type II collagen disorder. ³⁸ ⁷¹	Hoornaert KP...Mortier GR	17726487	2007
4	Spondyloperipheral dysplasia. ³⁸ ⁸	Sorge G...Lachman RS	8588574	1995
5	Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. ³⁸ ⁸	Sybert VP...Hall JG	104811	1979
6	Type II Collagen Disorders Overview ⁷¹	Gregersen PA...Savarirayan R	31021589	2019
7	Czech dysplasia metatarsal type. ⁷¹	Kozlowski K...Kuklik M	15266623	2004
8	Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. ⁷¹	Nishimura G...Ikegawa S	14729840	2004
9	Unique skeletal dysplasia with absence of the distal ulnae. ⁸	Goldblatt J...Behari D	3425631	1987
10	Spondyloepiphyseal dysplasia. ⁸	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. ³⁸	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. ³⁸	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. ³⁸	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. ³⁸	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. ³⁸	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. ³⁸	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. ³⁸	Kitoh H...Lachman RS	11200993	2001
18	[Spondyloperipheral dysplasia]. ³⁸	Nishimura G	11528970	2001
19	An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia". ³⁸	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	1387.37	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	17726487 15266623 15316962 (more) 8723097 14729840 31021589
2	LOC105369752	Uncharacterized LOC105369752	RNA Gene	7.19	GeneCards inferred via : Variants (show sections)

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Variations for Spondyloperipheral Dysplasia

ClinVar genetic disease variations for Spondyloperipheral Dysplasia:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	COL2A1	NM_001844.5(COL2A1): c.1957C> T (p.Arg653Ter)	single nucleotide variant	Pathogenic	rs121912893	12:48377504-48377504	12:47983721-47983721
2	COL2A1	NM_001844.5(COL2A1): c.4314C> A (p.Cys1438Ter)	single nucleotide variant	Pathogenic	rs121912890	12:48367875-48367875	12:47974092-47974092
3	COL2A1	NM_001844.5(COL2A1): c.4337del (p.Gly1446fs)	deletion	Pathogenic		12:48367317-48367317	12:47973534-47973534
4	COL2A1	NM_001844.5(COL2A1): c.4172A> G (p.Tyr1391Cys)	single nucleotide variant	Pathogenic	rs121912889	12:48368017-48368017	12:47974234-47974234
5	COL2A1	NM_001844.5(COL2A1): c.258C> A (p.Cys86Ter)	single nucleotide variant	Pathogenic	rs794727261	12:48393736-48393736	12:47999953-47999953
6	COL2A1	COL2A1, 5-BP DUP	duplication	Pathogenic
7	COL2A1	NM_001844.5(COL2A1): c.2965C> T (p.Arg989Cys)	single nucleotide variant	Pathogenic	rs121912874	12:48372112-48372112	12:47978329-47978329
8	COL2A1	NM_001844.5(COL2A1): c.4316C> T (p.Thr1439Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs121912886	12:48367873-48367873	12:47974090-47974090
9	COL2A1	NM_001844.5(COL2A1): c.803C> T (p.Pro268Leu)	single nucleotide variant	Uncertain significance	rs142770543	12:48388220-48388220	12:47994437-47994437
10	COL2A1	NM_001844.5(COL2A1): c.2618G> T (p.Gly873Val)	single nucleotide variant	Uncertain significance	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

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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