SEMDSH
MCID: SPN359
MIFTS: 25

Spondyloepimetaphyseal Dysplasia, Shohat Type (SEMDSH)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Shohat Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Shohat Type:

Name: Spondyloepimetaphyseal Dysplasia, Shohat Type 56 58 73
Semd, Shohat Type 56 58 73
Spondyloepimetaphyseal Dysplasia Shohat Type 52 6
Semdsh 56 73
Semd Shohat Type 52

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia, shohat type
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
waddling gate
tracheal narrowing may result in fatal upper airway obstruction


HPO:

31
spondyloepimetaphyseal dysplasia, shohat type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepimetaphyseal Dysplasia, Shohat Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93352 Definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature , short limbs, small chest, short neck, thin lips, severe lumbar lordosis , marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. Epidemiology The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. Clinical description The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay. Etiology Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Shohat Type, also known as semd, shohat type, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related and overgrowth syndrome. An important gene associated with Spondyloepimetaphyseal Dysplasia, Shohat Type is DDRGK1 (DDRGK Domain Containing 1). Affiliated tissues include bone and liver, and related phenotypes are short neck and abnormality of epiphysis morphology

OMIM : 56 Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by Egunsola et al., 2017). (602557)

UniProtKB/Swiss-Prot : 73 Spondyloepimetaphyseal dysplasia, Shohat type: An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly.

Related Diseases for Spondyloepimetaphyseal Dysplasia, Shohat Type

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

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.5
2 overgrowth syndrome 10.5

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Shohat Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Shohat Type:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
5 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
6 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
7 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
8 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
9 abnormal epiphyseal ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0010656
10 flat acetabular roof 58 31 hallmark (90%) Very frequent (99-80%) HP:0003180
11 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
12 lumbar hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002938
13 short femur 58 31 hallmark (90%) Very frequent (99-80%) HP:0003097
14 metaphyseal widening 58 31 hallmark (90%) Very frequent (99-80%) HP:0003016
15 short iliac bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0100866
16 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
17 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
18 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
19 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
20 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
21 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
22 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
23 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
24 wormian bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0002645
25 hoarse voice 31 very rare (1%) HP:0001609
26 joint laxity 31 HP:0001388
27 coxa vara 31 HP:0002812
28 disproportionate short stature 31 HP:0003498
29 vertebral hypoplasia 31 HP:0008417
30 bell-shaped thorax 31 HP:0001591
31 limb undergrowth 31 HP:0009826
32 short ribs 31 HP:0000773
33 short femoral neck 31 HP:0100864
34 flared metaphysis 31 HP:0003015
35 delayed epiphyseal ossification 31 HP:0002663
36 metaphyseal irregularity 31 HP:0003025
37 abnormality of the abdominal wall 31 HP:0004298
38 narrow vertebral interpedicular distance 31 HP:0008450
39 narrow greater sacrosciatic notches 31 HP:0003375
40 fibular overgrowth 31 HP:0003099
41 central vertebral hypoplasia 31 HP:0008463

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Skeletal Limbs:
genu varum
short femoral neck
fibular overgrowth
short limbs
epiphyseal ossification delay
more
Chest Ribs Sternum Clavicles And Scapulae:
short ribs
splayed ribs

Chest External Features:
bell-shaped chest

Abdomen Liver:
hepatomegaly, mild

Growth Height:
short stature, severe disproportionate

Skeletal Spine:
lumbar lordosis, severe
scoliosis, severe (rare)
platyspondyly (infancy)
central vertebral hypoplasia (infancy)
squared vertebrae (childhood)
more
Skeletal:
joint laxity
spondyloepimetaphyseal dysplasia

Skeletal Pelvis:
coxa vara
flat acetabulae
short ilium
narrowed greater sciatic notch

Head And Neck Mouth:
thin lips

Abdomen External Features:
distended abdomen

Abdomen Spleen:
splenomegaly, mild

Respiratory Airways:
tracheal narrowing (in some patients)

Voice:
hoarseness (in some patients)

Clinical features from OMIM:

602557

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Shohat Type

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

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Shohat Type

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Shohat Type

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

40
Bone, Liver

Publications for Spondyloepimetaphyseal Dysplasia, Shohat Type

Articles related to Spondyloepimetaphyseal Dysplasia, Shohat Type:

# Title Authors PMID Year
1
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. 56 6
28263186 2017
2
New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. 56 6
8357004 1993
3
Spondyloepimetaphyseal dysplasia (SEMD) Shohat type. 61 56
8074146 1994

Variations for Spondyloepimetaphyseal Dysplasia, Shohat Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Shohat Type:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDRGK1 NM_023935.3(DDRGK1):c.408+1G>ASNV Pathogenic 487527 rs1325869434 20:3180987-3180987 20:3200341-3200341

Expression for Spondyloepimetaphyseal Dysplasia, Shohat Type

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

Pathways for Spondyloepimetaphyseal Dysplasia, Shohat Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Shohat Type

Sources for Spondyloepimetaphyseal Dysplasia, Shohat 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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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