SEMDIT
MCID: SPN243
MIFTS: 17

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 57 59 72
Semd, Irapa Type 59
Semdit 57

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia, irapa type
Inheritance: Autosomal recessive;

OMIM:

57
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

32
spondyloepimetaphyseal dysplasia, irapa type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 271650
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 73 C0432213
Orphanet 59 ORPHA93351
MedGen 42 C0432213
UMLS 72 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 osteoarthritis and genu valgum

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:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
2 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
3 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
4 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
5 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
6 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
7 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
8 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
9 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
10 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
11 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
12 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
13 upper limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009824
14 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
15 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
16 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
17 broad foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001769
18 broad palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0001169
19 spondyloepimetaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002651
20 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
21 hypoplastic pelvis 59 32 frequent (33%) Frequent (79-30%) HP:0008839
22 short metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010049
23 short metatarsal 59 32 frequent (33%) Frequent (79-30%) HP:0010743
24 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
25 disproportionate short-trunk short stature 32 HP:0003521
26 waddling gait 32 HP:0002515
27 capitate-hamate fusion 32 HP:0001241
28 lumbar hyperlordosis 32 HP:0002938
29 abnormal joint morphology 59 Very frequent (99-80%)
30 limited elbow extension 32 HP:0001377
31 abnormality of the carpal bones 59 Occasional (29-5%)
32 metaphyseal dysplasia 32 HP:0100255
33 broad femoral neck 32 HP:0006429
34 enlargement of the costochondral junction 32 HP:0000920
35 hypoplastic sacrum 32 HP:0004590

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteoarthritis
spondyloepimetaphyseal dysplasia

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

Skeletal Pelvis:
coxa vara
protruding iliac wings
wide femoral neck

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

Skeletal Limbs:
osteoarthritis
genu valgum
metaphyseal dysplasia
arthralgias
short arms
more
Skeletal Spine:
platyspondyly
increased lumbar lordosis
small sacrum

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:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Irapa Type

Articles related to Spondyloepimetaphyseal Dysplasia, Irapa Type:

# Title Authors PMID Year
1
Osteochondrodysplasia Irapa type: an ethnic marker gene in two subcontinents. 8
6945045 1981
2
Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome. 8
6772027 1980
3
[Irapa type spondylo-epiphyso-metaphyseal osteochondrodysplasia. New type of dwarfism with short spine and metatarsals]. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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