SEMDFA
MCID: SPN368
MIFTS: 24

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 57 74 29 6
Spondyloepimetaphyseal Dysplasia, Progressive, with Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, and Mental Retardation, with or Without Craniosynostosis 57 74
Semdfa 57 74
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

Miscellaneous:
progressive skeletal dysplasia


HPO:

32
spondyloepimetaphyseal dysplasia, faden-alkuraya type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616723
MeSH 44 D010009
Orphanet 59 ORPHA457395

Summaries for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

UniProtKB/Swiss-Prot : 74 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:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 32 occasional (7.5%) HP:0001290
2 autistic behavior 32 occasional (7.5%) HP:0000729
3 malar flattening 32 HP:0000272
4 hypertelorism 32 HP:0000316
5 low-set ears 32 HP:0000369
6 short neck 32 HP:0000470
7 ptosis 32 HP:0000508
8 osteopenia 32 HP:0000938
9 intellectual disability 32 HP:0001249
10 delayed skeletal maturation 32 HP:0002750
11 depressed nasal bridge 32 HP:0005280
12 abnormal facial shape 32 HP:0001999
13 short nose 32 HP:0003196
14 microtia 32 HP:0008551
15 thick vermilion border 32 HP:0012471
16 microcephaly 32 HP:0000252
17 short stature 32 HP:0004322
18 tented upper lip vermilion 32 HP:0010804
19 strabismus 32 HP:0000486
20 platyspondyly 32 HP:0000926
21 epicanthus 32 HP:0000286
22 motor delay 32 HP:0001270
23 craniosynostosis 32 HP:0001363
24 short metacarpal 32 HP:0010049
25 narrow pelvis bone 32 HP:0003275
26 femoral bowing 32 HP:0002980
27 small epiphyses 32 HP:0010585
28 short femoral neck 32 HP:0100864
29 thoracolumbar scoliosis 32 HP:0002944
30 overlapping toe 32 HP:0001845
31 skull asymmetry 32 HP:0002678
32 proximal femoral epiphysiolysis 32 HP:0006461

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
ptosis, mild

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
flattened occiput

Growth Height:
short stature

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:
microcephaly
craniosynostosis
'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:

41
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. 8 71
26365341 2015
2
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 38
30063090 2018

Variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RSPRY1 NM_133368.3(RSPRY1): c.1279dup (p.Thr427fs) duplication Pathogenic rs864309651 16:57264628-57264628 16:57230716-57230716
2 RSPRY1 NM_133368.3(RSPRY1): c.121G> T (p.Gly41Cys) single nucleotide variant Pathogenic rs864309652 16:57238691-57238691 16:57204779-57204779

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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