MCID: SPN251
MIFTS: 28

Spondyloenchondrodysplasia with Immune Dysregulation

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Spondyloenchondrodysplasia with Immune Dysregulation

MalaCards integrated aliases for Spondyloenchondrodysplasia with Immune Dysregulation:

Name: Spondyloenchondrodysplasia with Immune Dysregulation 54 24 25 71 29 13 69
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 24 25 71
Spencdi 24 25 71
Roifman Immunoskeletal Syndrome 71
Spondyloenchondrodysplasia 69
Roifman-Melamed Syndrome 25
Roifman-Costa Syndrome 25
Spencd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset, from infancy to 15 years
marked clinical variability, both within and between families
variable severity, from infantile death due to autoimmune thrombocytopenia to isolated skeletal dysplasia in adult patient


HPO:

32
spondyloenchondrodysplasia with immune dysregulation:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Spondyloenchondrodysplasia with Immune Dysregulation

OMIM : 54
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. (607944)

MalaCards based summary : Spondyloenchondrodysplasia with Immune Dysregulation, also known as combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, is related to spondyloenchondrodysplasia, and has symptoms including short stature, recurrent respiratory infections and low-set ears. An important gene associated with Spondyloenchondrodysplasia with Immune Dysregulation is ACP5 (Acid Phosphatase 5, Tartrate Resistant). Affiliated tissues include bone, t cells and skin.

UniProtKB/Swiss-Prot : 71 Spondyloenchondrodysplasia with immune dysregulation: A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone.

Genetics Home Reference : 25 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence.

Related Diseases for Spondyloenchondrodysplasia with Immune Dysregulation

Diseases related to Spondyloenchondrodysplasia with Immune Dysregulation via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spondyloenchondrodysplasia 9.9

Symptoms & Phenotypes for Spondyloenchondrodysplasia with Immune Dysregulation

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Ears:
low-set ears
otitis media, multiple episodes

Skeletal- Spine:
platyspondyly
kyphoscoliosis
irregular vertebral endplates
increased lumbar lordosis
posterior vertebral body radiolucencies

Immunology:
lymphadenopathy
combined humoral and cellular immunodeficiency
recurrent infections (pneumonia, sinusitis, fulminant varicella)
autoimmune disorders (i.e., itp, juvenile rheumatoid arthritis (jra), hypothyroidism, crohn disease)
decreased t cell response to mitogens
more
Skeletal:
spondylometaphyseal dysplasia

Respiratory:
recurrent respiratory tract infections (upper and lower)

Skin Nails & Hair- Hair:
normal hair shaft morphology

Neurologic- Central Nervous System:
spasticity
spastic diplegia
cns calcifications, esp. basal ganglia, on ct scan
progressive spastic quadriparesis
mild mental retardation (in some patients)

Hematology:
thrombocytopenia
idiopathic thrombocytopenic purpura (itp)

Respiratory- Lung:
restrictive lung disease
pneumonia
interstitial fibrosis

Skin Nails & Hair- Skin:
hyperpigmented macules
hypopigmented skin patches on arms (vitiligo)

Head And Neck- Nose:
narrow, pointy nose

Skeletal- Limbs:
symmetric radiolucencies in long bone metaphyses
sclerotic, irregular metaphyses (distal radii and ulnae, distal femurs, proximal fibulae)

Endocrine Features:
hypothyroidism (autoimmune)


Clinical features from OMIM:

607944

Human phenotypes related to Spondyloenchondrodysplasia with Immune Dysregulation:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 recurrent respiratory infections 32 HP:0002205
3 low-set ears 32 HP:0000369
4 platyspondyly 32 HP:0000926
5 purpura 32 HP:0000979
6 tubulointerstitial fibrosis 32 HP:0005576
7 lymphadenopathy 32 HP:0002716
8 pneumonia 32 HP:0002090
9 irregular vertebral endplates 32 HP:0003301
10 hypothyroidism 32 HP:0000821
11 narrow nose 32 HP:0000460
12 immune dysregulation 32 HP:0002958
13 autoimmune thrombocytopenia 32 HP:0001973
14 recurrent otitis media 32 HP:0000403
15 recurrent sinusitis 32 HP:0011108
16 vitiligo 32 HP:0001045
17 cellular immunodeficiency 32 HP:0005374
18 metaphyseal irregularity 32 HP:0003025
19 metaphyseal sclerosis 32 HP:0004979
20 spondylometaphyseal dysplasia 32 HP:0002657
21 rheumatoid arthritis 32 HP:0001370
22 restrictive ventilatory defect 32 HP:0002091
23 hypermelanotic macule 32 HP:0001034
24 decrease in t cell count 32 HP:0005403
25 combined immunodeficiency 32 HP:0005387
26 hypopigmented skin patches on arms 32 HP:0007526

UMLS symptoms related to Spondyloenchondrodysplasia with Immune Dysregulation:


muscle spasticity

Drugs & Therapeutics for Spondyloenchondrodysplasia with Immune Dysregulation

Search Clinical Trials , NIH Clinical Center for Spondyloenchondrodysplasia with Immune Dysregulation

Genetic Tests for Spondyloenchondrodysplasia with Immune Dysregulation

Genetic tests related to Spondyloenchondrodysplasia with Immune Dysregulation:

id Genetic test Affiliating Genes
1 Spondyloenchondrodysplasia with Immune Dysregulation 29 24 ACP5

Anatomical Context for Spondyloenchondrodysplasia with Immune Dysregulation

MalaCards organs/tissues related to Spondyloenchondrodysplasia with Immune Dysregulation:

39
Bone, T Cells, Skin, Lung

Publications for Spondyloenchondrodysplasia with Immune Dysregulation

Articles related to Spondyloenchondrodysplasia with Immune Dysregulation:

id Title Authors Year
1
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]. ( 17497723 )
2007

Variations for Spondyloenchondrodysplasia with Immune Dysregulation

UniProtKB/Swiss-Prot genetic disease variations for Spondyloenchondrodysplasia with Immune Dysregulation:

71
id Symbol AA change Variation ID SNP ID
1 ACP5 p.Lys52Met VAR_065920
2 ACP5 p.Thr89Ile VAR_065921 rs387906668
3 ACP5 p.Gly109Arg VAR_065922 rs781050795
4 ACP5 p.Leu201Pro VAR_065923 rs387906672
5 ACP5 p.Gly215Arg VAR_065924 rs781199182
6 ACP5 p.Asp241Asn VAR_065925
7 ACP5 p.Asn262His VAR_065926
8 ACP5 p.Met264Lys VAR_065927 rs387906670

ClinVar genetic disease variations for Spondyloenchondrodysplasia with Immune Dysregulation:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACP5 NM_001111035.2(ACP5): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs387906668 GRCh37 Chromosome 19, 11687654: 11687654
2 ACP5 NM_001111035.2(ACP5): c.667C> T (p.Gln223Ter) single nucleotide variant Pathogenic rs387906669 GRCh37 Chromosome 19, 11687126: 11687126
3 ACP5 NM_001111035.2(ACP5): c.791T> A (p.Met264Lys) single nucleotide variant Pathogenic rs387906670 GRCh37 Chromosome 19, 11686012: 11686012
4 ACP5 ACP5, GLY215ARG single nucleotide variant Pathogenic
5 ACP5 NM_001111035.2(ACP5): c.325G> A (p.Gly109Arg) single nucleotide variant Pathogenic rs781050795 GRCh38 Chromosome 19, 11576780: 11576780
6 ACP5 NM_001111035.2(ACP5): c.831_833delCTA (p.Tyr278del) deletion Pathogenic rs387906671 GRCh37 Chromosome 19, 11685970: 11685972
7 ACP5 NM_001111035.2(ACP5): c.602T> C (p.Leu201Pro) single nucleotide variant Pathogenic rs387906672 GRCh37 Chromosome 19, 11687191: 11687191
8 ACP5 NM_001111035.2(ACP5): c.131C> T (p.Thr44Met) single nucleotide variant Pathogenic rs369804864 GRCh38 Chromosome 19, 11577187: 11577187
9 ACP5 NM_001111035.2(ACP5): c.816dupC (p.Lys273Glnfs) duplication Pathogenic rs879255600 GRCh37 Chromosome 19, 11685987: 11685987
10 ACP5 NM_001111035.2(ACP5): c.772_790del19 (p.Ser258Trpfs) deletion Pathogenic rs878853218 GRCh38 Chromosome 19, 11575198: 11575216

Expression for Spondyloenchondrodysplasia with Immune Dysregulation

Search GEO for disease gene expression data for Spondyloenchondrodysplasia with Immune Dysregulation.

Pathways for Spondyloenchondrodysplasia with Immune Dysregulation

GO Terms for Spondyloenchondrodysplasia with Immune Dysregulation

Sources for Spondyloenchondrodysplasia with Immune Dysregulation

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70 UMLS via Orphanet
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