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 58 76 6
Spondyloepimetaphyseal Dysplasia, Progressive, with Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, and Mental Retardation, with or Without Craniosynostosis 58 76
Semdfa 58 76
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive skeletal dysplasia


HPO:

33
spondyloepimetaphyseal dysplasia, faden-alkuraya type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

UniProtKB/Swiss-Prot : 76 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 pyle disease and spondyloepimetaphyseal dysplasia, matrilin-3 related. 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

Description 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 pyle disease 10.6
2 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.6
3 craniosynostosis 10.6
4 brachydactyly 10.6

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 33 occasional (7.5%) HP:0001290
2 autistic behavior 33 occasional (7.5%) HP:0000729
3 malar flattening 33 HP:0000272
4 hypertelorism 33 HP:0000316
5 low-set ears 33 HP:0000369
6 short neck 33 HP:0000470
7 ptosis 33 HP:0000508
8 osteopenia 33 HP:0000938
9 intellectual disability 33 HP:0001249
10 delayed skeletal maturation 33 HP:0002750
11 depressed nasal bridge 33 HP:0005280
12 abnormal facial shape 33 HP:0001999
13 short nose 33 HP:0003196
14 microtia 33 HP:0008551
15 thick vermilion border 33 HP:0012471
16 microcephaly 33 HP:0000252
17 short stature 33 HP:0004322
18 strabismus 33 HP:0000486
19 platyspondyly 33 HP:0000926
20 epicanthus 33 HP:0000286
21 motor delay 33 HP:0001270
22 craniosynostosis 33 HP:0001363
23 tented upper lip vermilion 33 HP:0010804
24 short metacarpal 33 HP:0010049
25 narrow pelvis bone 33 HP:0003275
26 femoral bowing 33 HP:0002980
27 small epiphyses 33 HP:0010585
28 short femoral neck 33 HP:0100864
29 thoracolumbar scoliosis 33 HP:0002944
30 overlapping toe 33 HP:0001845
31 proximal femoral epiphysiolysis 33 HP:0006461
32 skull asymmetry 33 HP:0002678

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

42
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Articles related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

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

Variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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

76
# Symbol AA change Variation ID SNP ID
1 RSPRY1 p.Gly41Cys VAR_075873 rs864309652

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPRY1 NM_133368.2(RSPRY1): c.1279dupA (p.Thr427Asnfs) duplication Pathogenic rs864309651 GRCh38 Chromosome 16, 57230716: 57230716
2 RSPRY1 NM_133368.2(RSPRY1): c.1279dupA (p.Thr427Asnfs) duplication Pathogenic rs864309651 GRCh37 Chromosome 16, 57264628: 57264628
3 RSPRY1 NM_133368.2(RSPRY1): c.121G> T (p.Gly41Cys) single nucleotide variant Pathogenic rs864309652 GRCh38 Chromosome 16, 57204779: 57204779
4 RSPRY1 NM_133368.2(RSPRY1): c.121G> T (p.Gly41Cys) single nucleotide variant Pathogenic rs864309652 GRCh37 Chromosome 16, 57238691: 57238691

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
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20 FMA
29 GO
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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58 OMIM
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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