MCID: SPN359
MIFTS: 22

Spondyloepimetaphyseal Dysplasia, Shohat Type

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Shohat Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Shohat Type:

Name: Spondyloepimetaphyseal Dysplasia, Shohat Type 57 59 75
Semd, Shohat Type 57 59 75
Spondyloepimetaphyseal Dysplasia Shohat Type 53 6
Semdsh 57 75
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:



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: 93352Disease definitionSpondyloepimetaphyseal 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, is also known as semd, shohat type. 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 distension with hepatosplenomegaly (summary by Egunsola et al., 2017). (602557)

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Shohat Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

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

AbdomenSpleen:
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

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Shohat Type:

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

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

Variations for Spondyloepimetaphyseal Dysplasia, Shohat Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Shohat Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DDRGK1 NM_023935.2(DDRGK1): c.408+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 20, 3180987: 3180987
2 DDRGK1 NM_023935.2(DDRGK1): c.408+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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