MCID: SPN361
MIFTS: 23

Spondylometaphyseal Dysplasia, Algerian Type

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia, Algerian Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Algerian Type:

Name: Spondylometaphyseal Dysplasia, Algerian Type 57 59
Spondylometaphyseal Dysplasia with Severe Genu Valgum 57 53 59
Spondylometaphyseal Dysplasia, Schmidt Type 57 59
Japanese Type Spondylometaphyseal Dysplasia 53
Spondylometaphyseal Dysplasia Algerian Type 53
Spondylometaphyseal Dysplasia Schmidt Type 53
Metaphyseal Chondrodysplasia Schmid Type 73
Schmid Metaphyseal Dysostosis 53

Characteristics:

Orphanet epidemiological data:

59
spondylometaphyseal dysplasia, schmidt type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondylometaphyseal dysplasia, algerian type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 184253
Orphanet 59 ORPHA93316
UMLS via Orphanet 74 C1866688
ICD10 via Orphanet 34 Q77.8
MedGen 42 C1866688
UMLS 73 C0265289

Summaries for Spondylometaphyseal Dysplasia, Algerian 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: 93316Disease definitionSpondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.EpidemiologyThis condition has been reported in five members of an Algerian family and one Polish boy; the patient reported by Schmidt et al. possibly had this disorder.EtiologyAutosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondylometaphyseal Dysplasia, Algerian Type, also known as spondylometaphyseal dysplasia with severe genu valgum, is related to metaphyseal chondrodysplasia, schmid type and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Spondylometaphyseal Dysplasia, Algerian Type is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are joint dislocation and genu valgum

Description from OMIM: 184253

Related Diseases for Spondylometaphyseal Dysplasia, Algerian Type

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

# Related Disease Score Top Affiliating Genes
1 metaphyseal chondrodysplasia, schmid type 11.2
2 spondyloepimetaphyseal dysplasia, strudwick type 10.1

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Algerian Type

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
short long bones
humeral bowing
proximal radial shortening
distal ulnar shortening
more
Head And Neck Eyes:
myopia

Skeletal:
spondylometaphyseal dysplasia

Growth Height:
dwarfism

Skeletal Spine:
platyspondyly
lumbar hyperlordosis
progressive kyphoscoliosis

Skeletal Pelvis:
coxa vara
small pelvis
shortened sacroiliac notches

Chest Ribs Sternum Clavicles And Scapulae:
anterior rib cupping

Skeletal Hands:
short tubular bones
wrist deformity
small carpals


Clinical features from OMIM:

184253

Human phenotypes related to Spondylometaphyseal Dysplasia, Algerian Type:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
2 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
5 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
6 short long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003026
7 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
8 hypoplastic pelvis 59 32 frequent (33%) Frequent (79-30%) HP:0008839
9 kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002751
10 spondylometaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002657
11 abnormality of the wrist 59 32 hallmark (90%) Very frequent (99-80%) HP:0003019
12 metaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100255
13 carpal bone hypoplasia 32 HP:0001498
14 severe short stature 32 HP:0003510
15 coxa vara 32 HP:0002812
16 lumbar hyperlordosis 32 HP:0002938
17 short sacroiliac notch 32 HP:0003185
18 anterior rib cupping 32 HP:0000907
19 short tubular bones of the hand 32 HP:0001248
20 hypoplasia of proximal radius 32 HP:0006434
21 bowed humerus 32 HP:0003865
22 flared femoral metaphysis 32 HP:0002834
23 tibial metaphyseal irregularity 32 HP:0030292

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Algerian Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, Algerian Type

Genetic Tests for Spondylometaphyseal Dysplasia, Algerian Type

Anatomical Context for Spondylometaphyseal Dysplasia, Algerian Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Algerian Type:

41
Bone

Publications for Spondylometaphyseal Dysplasia, Algerian Type

Articles related to Spondylometaphyseal Dysplasia, Algerian Type:

# Title Authors Year
1
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type. ( 23653587 )
2013

Variations for Spondylometaphyseal Dysplasia, Algerian Type

Expression for Spondylometaphyseal Dysplasia, Algerian Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Algerian Type.

Pathways for Spondylometaphyseal Dysplasia, Algerian Type

GO Terms for Spondylometaphyseal Dysplasia, Algerian Type

Sources for Spondylometaphyseal Dysplasia, Algerian Type

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17 ExPASy
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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