SSASKS
MCID: SHR119
MIFTS: 21

Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis (SSASKS)

Categories: Bone diseases, Ear diseases, Genetic diseases

Aliases & Classifications for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

MalaCards integrated aliases for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

Name: Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 57 72 6
Ssasks 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features are present


HPO:

31
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

OMIM® : 57 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development (Ashikov et al., 2018). (618363) (Updated 20-May-2021)

MalaCards based summary : Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis, is also known as ssasks. An important gene associated with Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis is SLC10A7 (Solute Carrier Family 10 Member 7). Affiliated tissues include bone, and related phenotypes are hearing impairment and global developmental delay

UniProtKB/Swiss-Prot : 72 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis: An autosomal recessive disorder characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, hearing impairment, and mildly impaired intellectual development.

Related Diseases for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Symptoms & Phenotypes for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Human phenotypes related to Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 global developmental delay 31 very rare (1%) HP:0001263
3 inguinal hernia 31 very rare (1%) HP:0000023
4 carious teeth 31 very rare (1%) HP:0000670
5 pes planus 31 very rare (1%) HP:0001763
6 reduced number of teeth 31 very rare (1%) HP:0009804
7 truncal obesity 31 very rare (1%) HP:0001956
8 pierre-robin sequence 31 very rare (1%) HP:0000201
9 high palate 31 HP:0000218
10 hyperlordosis 31 HP:0003307
11 genu valgum 31 HP:0002857
12 short thorax 31 HP:0010306
13 cleft palate 31 HP:0000175
14 kyphoscoliosis 31 HP:0002751
15 microretrognathia 31 HP:0000308
16 round face 31 HP:0000311
17 coxa valga 31 HP:0002673
18 hip contracture 31 HP:0003273
19 accelerated skeletal maturation 31 HP:0005616
20 disproportionate short stature 31 HP:0003498
21 thoracic hypoplasia 31 HP:0005257
22 short long bone 31 HP:0003026
23 amelogenesis imperfecta 31 HP:0000705
24 flattened epiphysis 31 HP:0003071
25 coronal cleft vertebrae 31 HP:0003417
26 irregular vertebral endplates 31 HP:0003301
27 short femoral neck 31 HP:0100864
28 small epiphyses 31 HP:0010585
29 knee dislocation 31 HP:0004976
30 advanced ossification of carpal bones 31 HP:0004233

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
hyperlordosis
kyphoscoliosis
vertebral anomalies
coronal clefts
more
Chest External Features:
short thorax
small thorax
chest deformity (in some patients)

Skeletal Pelvis:
coxa valga
hip contracture
abnormally shaped pelvis

Skeletal Limbs:
small epiphyses
knee dislocation
genua valga
short tubular bones
short extremities
more
Abdomen Gastrointestinal:
inguinal hernia (in some patients)

Skeletal Hands:
advanced carpal ossification

Growth Weight:
truncal obesity (in some patients)
obesity (in some patients)

Laboratory Abnormalities:
reduced sialylation
n-glycosylation defect
increase of high-mannose glycans

Respiratory:
respiratory distress at birth

Head And Neck Mouth:
high palate
cleft palate
pierre-robin sequence (in some patients)

Head And Neck Face:
micrognathia
microretrognathia
round face
mandibular hypoplasia

Growth Height:
disproportionate short stature
short stature, prenatal and postnatal (< -3 sd)

Skeletal:
advanced bone age
hypermobile joints
decreased bone mass

Head And Neck Teeth:
discolored enamel
rough enamel
dental caries (in some patients)
amelogenesis imperfecta, hypomineralized
short crowns
more
Head And Neck Ears:
hearing impairment (in some patients)

Skeletal Feet:
pes planus (in some patients)

Neurologic Central Nervous System:
impaired intellectual development (in some patients)
developmental delay (rare)

Clinical features from OMIM®:

618363 (Updated 20-May-2021)

Drugs & Therapeutics for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Search Clinical Trials , NIH Clinical Center for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis

Genetic Tests for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Anatomical Context for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

MalaCards organs/tissues related to Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

40
Bone

Publications for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Articles related to Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

# Title Authors PMID Year
1
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. 6 57
29878199 2018
2
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. 6 57
30082715 2018

Variations for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

ClinVar genetic disease variations for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC10A7 NM_001029998.6(SLC10A7):c.722-16A>G SNV Pathogenic 623252 rs773117913 GRCh37: 4:147214148-147214148
GRCh38: 4:146292996-146292996
2 SLC10A7 NM_001029998.6(SLC10A7):c.335G>A (p.Gly112Asp) SNV Pathogenic 623253 rs1560973571 GRCh37: 4:147425062-147425062
GRCh38: 4:146503910-146503910
3 SLC10A7 NM_001029998.6(SLC10A7):c.553C>T (p.Gln185Ter) SNV Pathogenic 623254 rs1560782372 GRCh37: 4:147227080-147227080
GRCh38: 4:146305928-146305928
4 SLC10A7 NM_001029998.6(SLC10A7):c.221T>C (p.Leu74Pro) SNV Pathogenic 623255 rs1560980659 GRCh37: 4:147431164-147431164
GRCh38: 4:146510012-146510012
5 SLC10A7 NM_001029998.6(SLC10A7):c.388G>A (p.Gly130Arg) SNV Pathogenic 623256 rs1560973467 GRCh37: 4:147425009-147425009
GRCh38: 4:146503857-146503857

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

72
# Symbol AA change Variation ID SNP ID
1 SLC10A7 p.Leu74Pro VAR_082056 rs156098065
2 SLC10A7 p.Gly112Asp VAR_082057 rs156097357
3 SLC10A7 p.Pro303Leu VAR_082060

Expression for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Search GEO for disease gene expression data for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis.

Pathways for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

GO Terms for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Sources for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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