SEMDIT
MCID: SPN243
MIFTS: 18

Spondyloepimetaphyseal Dysplasia, Irapa Type (SEMDIT)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Irapa Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Irapa Type:

Name: Spondyloepimetaphyseal Dysplasia, Irapa Type 56 58 71
Semd, Irapa Type 58
Semdit 56

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia, irapa type
Inheritance: Autosomal recessive;

OMIM:

56
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

31
spondyloepimetaphyseal dysplasia, irapa type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 271650
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C0432213
Orphanet 58 ORPHA93351
MedGen 41 C0432213
UMLS 71 C0432213

Summaries for Spondyloepimetaphyseal Dysplasia, Irapa Type

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Irapa Type, is also known as semd, irapa type, and has symptoms including arthralgia and waddling gait. Affiliated tissues include bone, and related phenotypes are pectus carinatum and pes planus

More information from OMIM: 271650

Related Diseases for Spondyloepimetaphyseal Dysplasia, Irapa Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Irapa Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Irapa Type:

58 31 (showing 35, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
2 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
6 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
7 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
8 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
9 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
10 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
11 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
12 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
13 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
14 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
15 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
16 broad palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0001169
17 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
18 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
19 upper limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009824
20 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
21 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
22 short metatarsal 58 31 frequent (33%) Frequent (79-30%) HP:0010743
23 hypoplastic pelvis 58 31 frequent (33%) Frequent (79-30%) HP:0008839
24 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
25 disproportionate short-trunk short stature 31 HP:0003521
26 waddling gait 31 HP:0002515
27 capitate-hamate fusion 31 HP:0001241
28 abnormal joint morphology 58 Very frequent (99-80%)
29 abnormality of the carpal bones 58 Occasional (29-5%)
30 metaphyseal dysplasia 31 HP:0100255
31 broad femoral neck 31 HP:0006429
32 limited elbow extension 31 HP:0001377
33 lumbar hyperlordosis 31 HP:0002938
34 enlargement of the costochondral junction 31 HP:0000920
35 hypoplastic sacrum 31 HP:0004590

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
widened costochondral junction

Skeletal Spine:
platyspondyly
increased lumbar lordosis
small sacrum

Skeletal Pelvis:
coxa vara
protruding iliac wings
wide femoral neck

Skeletal Feet:
short metatarsals
flat, broad feet
long second toes

Skeletal Limbs:
genu valgum
osteoarthritis
metaphyseal dysplasia
arthralgias
short arms
more
Skeletal:
osteoarthritis
spondyloepimetaphyseal dysplasia

Skeletal Hands:
capitate-hamate fusion
short, broad hands
short metacarpals

Growth Height:
short stature, disproportionate short-trunked (identifiable at birth)

Clinical features from OMIM:

271650

UMLS symptoms related to Spondyloepimetaphyseal Dysplasia, Irapa Type:


arthralgia, waddling gait

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Irapa Type

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

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Irapa Type

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Irapa Type

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

40
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Irapa Type

Articles related to Spondyloepimetaphyseal Dysplasia, Irapa Type:

(showing 3, show less)
# Title Authors PMID Year
1
Osteochondrodysplasia Irapa type: an ethnic marker gene in two subcontinents. 56
6945045 1981
2
Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome. 56
6772027 1980
3
[Irapa type spondylo-epiphyso-metaphyseal osteochondrodysplasia. New type of dwarfism with short spine and metatarsals]. 56
1264699 1976

Variations for Spondyloepimetaphyseal Dysplasia, Irapa Type

Expression for Spondyloepimetaphyseal Dysplasia, Irapa Type

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

Pathways for Spondyloepimetaphyseal Dysplasia, Irapa Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Irapa Type

Sources for Spondyloepimetaphyseal Dysplasia, Irapa Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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