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 53 24 71 36 28 13 69
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 53 24 71
Spencdi 53 24 71
Roifman Immunoskeletal Syndrome 53 71
Spencd 53 71
Spondyloenchondrodysplasia 69
Roifman-Melamed Syndrome 24
Roifman-Costa Syndrome 24

Characteristics:

OMIM:

53
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:

31
spondyloenchondrodysplasia with immune dysregulation:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloenchondrodysplasia with Immune Dysregulation

OMIM : 53 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 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity and spondyloenchondrodysplasia, and has symptoms including low-set ears, hypothyroidism and recurrent respiratory infections. An important gene associated with Spondyloenchondrodysplasia with Immune Dysregulation is ACP5 (Acid Phosphatase 5, Tartrate Resistant). Affiliated tissues include bone, t cells and skin.

Genetics Home Reference : 24 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.

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.

Related Diseases for Spondyloenchondrodysplasia with Immune Dysregulation

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

# Related Disease Score Top Affiliating Genes
1 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
2 spondyloenchondrodysplasia 10.0

Symptoms & Phenotypes for Spondyloenchondrodysplasia with Immune Dysregulation

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
otitis media, multiple episodes

Growth Height:
short stature

Hematology:
thrombocytopenia
idiopathic thrombocytopenic purpura (itp)

Respiratory Lung:
pneumonia
restrictive lung disease
interstitial fibrosis

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

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)

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

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:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 hypothyroidism 31 HP:0000821
3 recurrent respiratory infections 31 HP:0002205
4 short stature 31 HP:0004322
5 intellectual disability, mild 31 occasional (7.5%) HP:0001256
6 platyspondyly 31 HP:0000926
7 recurrent otitis media 31 HP:0000403
8 vitiligo 31 HP:0001045
9 cellular immunodeficiency 31 HP:0005374
10 purpura 31 HP:0000979
11 hypermelanotic macule 31 HP:0001034
12 lymphadenopathy 31 HP:0002716
13 decrease in t cell count 31 HP:0005403
14 pneumonia 31 HP:0002090
15 kyphoscoliosis 31 HP:0002751
16 spondylometaphyseal dysplasia 31 HP:0002657
17 progressive spastic quadriplegia 31 HP:0002478
18 spastic diplegia 31 HP:0001264
19 rheumatoid arthritis 31 HP:0001370
20 lumbar hyperlordosis 31 HP:0002938
21 narrow nose 31 HP:0000460
22 autoimmune thrombocytopenia 31 HP:0001973
23 irregular vertebral endplates 31 HP:0003301
24 metaphyseal sclerosis 31 HP:0004979
25 recurrent sinusitis 31 HP:0011108
26 metaphyseal irregularity 31 HP:0003025
27 tubulointerstitial fibrosis 31 HP:0005576
28 immune dysregulation 31 HP:0002958
29 restrictive ventilatory defect 31 HP:0002091
30 combined immunodeficiency 31 HP:0005387
31 hypopigmented skin patches on arms 31 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:

# Genetic test Affiliating Genes
1 Spondyloenchondrodysplasia with Immune Dysregulation 28 ACP5

Anatomical Context for Spondyloenchondrodysplasia with Immune Dysregulation

MalaCards organs/tissues related to Spondyloenchondrodysplasia with Immune Dysregulation:

38
Bone, T Cells, Skin, Lung

Publications for Spondyloenchondrodysplasia with Immune Dysregulation

Articles related to Spondyloenchondrodysplasia with Immune Dysregulation:

# 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
# 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
# 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 NM_001111035.2(ACP5): c.643G> C (p.Gly215Arg) single nucleotide variant Pathogenic rs781199182 GRCh38 Chromosome 19, 11576335: 11576335
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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