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SEMDFA
MCID: SPN368
MIFTS: 28

Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type (SEMDFA)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

Name: Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 57 72 29 6
Spondyloepimetaphyseal Dysplasia, Progressive, with Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, and Mental Retardation, with or Without Craniosynostosis 57 72
Semdfa 57 72
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®:

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

Miscellaneous:
progressive skeletal dysplasia


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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UniProtKB/Swiss-Prot : 72 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 alacrima, achalasia, and mental retardation syndrome. 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 frontal bossing and short neck

More information from OMIM: 616723
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Related Diseases for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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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 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 brachydactyly 10.4
4 metaphyseal dysplasia 10.4
5 spondyloepimetaphyseal dysplasia 10.4
6 osteochondrodysplasia 10.4
7 craniosynostosis 10.4

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



Diseases related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

58 31 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
7 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
8 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
9 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
10 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
11 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
12 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
13 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
14 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
15 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
16 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
17 tented upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0010804
18 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
19 autistic behavior 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000729
20 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
21 short femoral neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0100864
22 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
23 overlapping toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001845
24 short fourth metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0004689
25 carpal bone hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001498
26 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
27 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
28 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
29 beaking of vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004568
30 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
31 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
32 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
33 disproportionate short-trunk short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003521
34 cubitus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0002967
35 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
36 slender long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003100
37 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
38 coxa vara 58 31 frequent (33%) Frequent (79-30%) HP:0002812
39 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
40 narrow pelvis bone 58 31 frequent (33%) Frequent (79-30%) HP:0003275
41 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
42 rocker bottom foot 58 31 frequent (33%) Frequent (79-30%) HP:0001838
43 generalized hypotonia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001290
44 thoracolumbar scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002944
45 small epiphyses 58 31 frequent (33%) Frequent (79-30%) HP:0010585
46 distal femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0005096
47 prominent calcaneus 58 31 frequent (33%) Frequent (79-30%) HP:0012428
48 severe expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0006863
49 hyperextensible hand joints 58 31 frequent (33%) Frequent (79-30%) HP:0005639
50 proximal femoral epiphysiolysis 58 31 frequent (33%) Frequent (79-30%) HP:0006461

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck

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

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

Head And Neck Ears:
low-set ears
small ears

Skeletal Limbs:
short femoral neck
small epiphyses
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 Nose:
depressed nasal bridge
short nose

Head And Neck Head:
microcephaly
flattened occiput

Growth Height:
short stature

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 (Updated 20-May-2021)

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

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

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

40
Bone
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Publications for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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Articles related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

# Title Authors PMID Year
1
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. 6 57
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
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Variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RSPRY1 NM_133368.3(RSPRY1):c.121G>T (p.Gly41Cys) SNV Pathogenic 218886 rs864309652 GRCh37: 16:57238691-57238691
GRCh38: 16:57204779-57204779
2 RSPRY1 NM_133368.3(RSPRY1):c.1279dup (p.Thr427fs) Duplication Pathogenic 218885 rs864309651 GRCh37: 16:57264627-57264628
GRCh38: 16:57230715-57230716
3 RSPRY1 NM_133368.3(RSPRY1):c.1422T>A (p.Cys474Ter) SNV Pathogenic 1029071 GRCh37: 16:57265124-57265124
GRCh38: 16:57231212-57231212
4 RSPRY1 NM_133368.3(RSPRY1):c.1421G>A (p.Cys474Tyr) SNV Uncertain significance 1029070 GRCh37: 16:57265123-57265123
GRCh38: 16:57231211-57231211

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

72
# Symbol AA change Variation ID SNP ID
1 RSPRY1 p.Gly41Cys VAR_075873 rs864309652

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Expression for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

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GO Terms for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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Sources for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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