SSASKS
MCID: SHR119
MIFTS: 14

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

Categories: Bone 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 58 6
Ssasks 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features are present


Classifications:



External Ids:

OMIM 58 618363

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

OMIM : 58 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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
high palate
cleft palate
pierre-robin sequence (in some patients)

Head And Neck Face:
micrognathia
round face
microretrognathia
mandibular hypoplasia

Chest External Features:
short thorax
small thorax
chest deformity (in some patients)

Skeletal Limbs:
knee dislocation
small epiphyses
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

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

Skeletal Spine:
scoliosis
hyperlordosis
kyphoscoliosis
vertebral anomalies
coronal clefts
more
Skeletal Pelvis:
coxa valga
hip contracture
abnormally shaped pelvis

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)

Respiratory:
respiratory distress at birth

Clinical features from OMIM:

618363

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:

42
Bone

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

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

# Title Authors Year
1
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. ( 30082715 )
2018
2
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. ( 29878199 )
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 Variation Type Significance SNP ID Assembly Location
1 SLC10A7 NM_001029998.5(SLC10A7): c.722-16A> G single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147214148: 147214148
2 SLC10A7 NM_001029998.5(SLC10A7): c.722-16A> G single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146292996: 146292996
3 SLC10A7 NM_001317816.1(SLC10A7): c.335G> A (p.Gly112Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147425062: 147425062
4 SLC10A7 NM_001317816.1(SLC10A7): c.335G> A (p.Gly112Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146503910: 146503910
5 SLC10A7 NM_001317816.1(SLC10A7): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147227080: 147227080
6 SLC10A7 NM_001317816.1(SLC10A7): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146305928: 146305928
7 SLC10A7 NM_001317816.1(SLC10A7): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147431164: 147431164
8 SLC10A7 NM_001317816.1(SLC10A7): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146510012: 146510012
9 SLC10A7 NM_001317816.1(SLC10A7): c.388G> A (p.Gly130Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147425009: 147425009
10 SLC10A7 NM_001317816.1(SLC10A7): c.388G> A (p.Gly130Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146503857: 146503857

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
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10 dbSNP
11 DGIdb
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18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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56 Novoseek
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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