SEMDSH
MCID: SPN359
MIFTS: 23

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 57 59 74
Semd, Shohat Type 57 59 74
Spondyloepimetaphyseal Dysplasia Shohat Type 53 6
Semdsh 57 74
Semd Shohat Type 53

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia, shohat type
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spondyloepimetaphyseal dysplasia, shohat type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602557
MeSH 44 D010009
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 73 C1865185
Orphanet 59 ORPHA93352
MedGen 42 C1865185

Summaries for Spondyloepimetaphyseal Dysplasia, Shohat 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: 93352DefinitionSpondyloepimetaphyseal 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.EpidemiologyThe syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.Clinical descriptionThe long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay.EtiologyAutosomal 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 related phenotypes are short neck and abnormality of epiphysis morphology

OMIM : 57 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 : 74 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:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
3 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
4 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
5 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
6 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
7 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
8 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
9 flat acetabular roof 59 32 hallmark (90%) Very frequent (99-80%) HP:0003180
10 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
11 lumbar hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002938
12 short femur 59 32 hallmark (90%) Very frequent (99-80%) HP:0003097
13 metaphyseal widening 59 32 hallmark (90%) Very frequent (99-80%) HP:0003016
14 spondyloepimetaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002651
15 abnormal epiphyseal ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0010656
16 short iliac bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0100866
17 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
18 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
19 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
20 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
21 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
22 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
23 abdominal distention 59 32 frequent (33%) Frequent (79-30%) HP:0003270
24 wormian bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0002645
25 hoarse voice 32 very rare (1%) HP:0001609
26 joint laxity 32 HP:0001388
27 coxa vara 32 HP:0002812
28 disproportionate short stature 32 HP:0003498
29 vertebral hypoplasia 32 HP:0008417
30 bell-shaped thorax 32 HP:0001591
31 limb undergrowth 32 HP:0009826
32 short ribs 32 HP:0000773
33 short femoral neck 32 HP:0100864
34 flared metaphysis 32 HP:0003015
35 abnormality of the abdominal wall 32 HP:0004298
36 delayed epiphyseal ossification 32 HP:0002663
37 metaphyseal irregularity 32 HP:0003025
38 narrow vertebral interpedicular distance 32 HP:0008450
39 narrow greater sacrosciatic notches 32 HP:0003375
40 fibular overgrowth 32 HP:0003099
41 central vertebral hypoplasia 32 HP:0008463

Symptoms via clinical synopsis from OMIM:

57
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

Abdomen Spleen:
mild splenomegaly

Abdomen External Features:
distended abdomen

Growth Height:
short stature, severe disproportionate

Skeletal Spine:
severe lumbar lordosis
severe scoliosis (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

Chest External Features:
bell-shaped chest

Abdomen Liver:
mild hepatomegaly

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:

41
Bone

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. 8 71
28263186 2017
2
New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. 8 71
8357004 1993
3
Spondyloepimetaphyseal dysplasia (SEMD) Shohat type. 38 8
8074146 1994

Variations for Spondyloepimetaphyseal Dysplasia, Shohat Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Shohat Type:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DDRGK1 NM_023935.3(DDRGK1): c.408+1G> A single nucleotide variant Pathogenic 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 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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