SEMDFA
MCID: SPN368
MIFTS: 26

Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type (SEMDFA)

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

Name: Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 56 73 29 6
Spondyloepimetaphyseal Dysplasia, Progressive, with Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, and Mental Retardation, with or Without Craniosynostosis 56 73
Semdfa 56 73
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive skeletal dysplasia


HPO:

31
spondyloepimetaphyseal dysplasia, faden-alkuraya type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

UniProtKB/Swiss-Prot : 73 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type: An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type, also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis, is related to coxa vara and pyle disease. An important gene associated with Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type is RSPRY1 (Ring Finger And SPRY Domain Containing 1). Affiliated tissues include bone, and related phenotypes are generalized hypotonia and autistic behavior

More information from OMIM: 616723

Related Diseases for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

# Related Disease Score Top Affiliating Genes
1 coxa vara 10.6
2 pyle disease 10.6
3 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.6
4 alacrima, achalasia, and mental retardation syndrome 10.6
5 brachydactyly 10.6
6 craniosynostosis 10.6

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:



Diseases related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

58 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hypotonia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001290
2 autistic behavior 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000729
3 malar flattening 58 31 Very frequent (99-80%) HP:0000272
4 hypertelorism 58 31 Very frequent (99-80%) HP:0000316
5 low-set ears 58 31 Frequent (79-30%) HP:0000369
6 short neck 58 31 Very frequent (99-80%) HP:0000470
7 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
8 osteopenia 58 31 Very frequent (99-80%) HP:0000938
9 delayed skeletal maturation 58 31 Very frequent (99-80%) HP:0002750
10 depressed nasal bridge 58 31 Very frequent (99-80%) HP:0005280
11 short nose 58 31 Very frequent (99-80%) HP:0003196
12 thick vermilion border 58 31 Very frequent (99-80%) HP:0012471
13 short stature 58 31 Very frequent (99-80%) HP:0004322
14 craniosynostosis 58 31 Very frequent (99-80%) HP:0001363
15 short metacarpal 58 31 Frequent (79-30%) HP:0010049
16 microcephaly 58 31 Frequent (79-30%) HP:0000252
17 tented upper lip vermilion 58 31 Very frequent (99-80%) HP:0010804
18 strabismus 58 31 Occasional (29-5%) HP:0000486
19 platyspondyly 58 31 Very frequent (99-80%) HP:0000926
20 epicanthus 58 31 Very frequent (99-80%) HP:0000286
21 motor delay 58 31 Very frequent (99-80%) HP:0001270
22 overlapping toe 58 31 Very frequent (99-80%) HP:0001845
23 narrow pelvis bone 58 31 Frequent (79-30%) HP:0003275
24 small epiphyses 58 31 Frequent (79-30%) HP:0010585
25 short femoral neck 58 31 Very frequent (99-80%) HP:0100864
26 thoracolumbar scoliosis 58 31 Frequent (79-30%) HP:0002944
27 proximal femoral epiphysiolysis 58 31 Frequent (79-30%) HP:0006461
28 frontal bossing 58 Very frequent (99-80%)
29 genu valgum 58 Frequent (79-30%)
30 ptosis 31 HP:0000508
31 hyperlordosis 58 Frequent (79-30%)
32 abnormality of the dentition 58 Frequent (79-30%)
33 pes planus 58 Frequent (79-30%)
34 abnormal facial shape 31 HP:0001999
35 beaking of vertebral bodies 58 Frequent (79-30%)
36 microtia 31 HP:0008551
37 brachydactyly 58 Very frequent (99-80%)
38 intellectual disability, moderate 58 Occasional (29-5%)
39 intellectual disability, mild 58 Frequent (79-30%)
40 disproportionate short-trunk short stature 58 Frequent (79-30%)
41 patent ductus arteriosus 58 Occasional (29-5%)
42 short palm 58 Frequent (79-30%)
43 cone-shaped epiphysis 58 Very frequent (99-80%)
44 carpal bone hypoplasia 58 Very frequent (99-80%)
45 short long bone 58 Frequent (79-30%)
46 toe clinodactyly 58 Occasional (29-5%)
47 abnormality of the hip bone 58 Very frequent (99-80%)
48 cubitus valgus 58 Frequent (79-30%)
49 pes cavus 58 Occasional (29-5%)
50 slender long bone 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
ptosis, mild

Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Head:
microcephaly
flattened occiput

Skeletal Limbs:
small epiphyses
short femoral neck
slipped capital femoral epiphyses
short, slender long bones
cupping of metaphyses of tibia and fibula
more
Skeletal Hands:
short metacarpals

Head And Neck Face:
facial dysmorphism
malar hypoplasia

Skeletal Pelvis:
narrow pelvis
coxa deformity

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (rare)

Head And Neck Ears:
low-set ears
small ears

Head And Neck Nose:
depressed nasal bridge
short nose

Skeletal Skull:
craniosynostosis
microcephaly
'copper-beaten' appearance of skull
premature closure of right coronal suture

Skeletal Spine:
platyspondyly
thoracolumbar scoliosis, mild
anterior wedging of lower thoracic vertebrae
posterior scalloping of lower thoracic vertebrae

Neurologic Central Nervous System:
delayed motor development
mental retardation
generalized hypotonia (in some patients)
asymmetry of cerebral hemispheres
asymmetry of lateral ventricles
more
Skeletal:
delayed bone age
generalized osteopenia

Head And Neck Mouth:
full lips
tented upper lip

Skeletal Feet:
overriding toes
marked shortening of fourth metatarsals

Muscle Soft Tissue:
reduced muscle strength (in some patients)

Clinical features from OMIM:

616723

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 29 RSPRY1

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

40
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Articles related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

# Title Authors PMID Year
1
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. 56 6
26365341 2015
2
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 61
30063090 2018

Variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RSPRY1 NM_133368.3(RSPRY1):c.1279dup (p.Thr427fs)duplication Pathogenic 218885 rs864309651 16:57264627-57264628 16:57230715-57230716
2 RSPRY1 NM_133368.3(RSPRY1):c.121G>T (p.Gly41Cys)SNV Pathogenic 218886 rs864309652 16:57238691-57238691 16:57204779-57204779

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

73
# Symbol AA change Variation ID SNP ID
1 RSPRY1 p.Gly41Cys VAR_075873 rs864309652

Expression for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Sources for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya 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
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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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