Spondyloenchondrodysplasia with immune dysregulation

Preferred Label : Spondyloenchondrodysplasia with immune dysregulation;

Symbol : SPENCDI;

CISMeF acronym : SPENCD; SPENCDI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SPENCD; Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia; Roifman immunoskeletal syndrome;

Description : Spondyloenchondrodysplasia with immune dysregulation combines the typical metaphyseal and vertebral bone lesions in spondyloenchondrodysplasia (SPENCD; 271550) 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. It has been suggested by some that the various clinical manifestations observed in association with SPENCD may be pleiotropic manifestations of a single nosologic entity defined by the presence of typical spondylar and metaphyseal changes (summary by Renella et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acid phosphatase 5, tartrate resistant gene (ACP5, 171640.0001);

Prefixed ID : #607944;

Details

Origin ID

607944;

UMLS CUI

C1842763;

Automatic exact mappings (from CISMeF team)
- ACP5 wt Allele [NCIt concept]
- Spondyloenchondrodysplasia [ORDO Disease]
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH concept]
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH Supplementary Concept]
- spondyloenchondrodysplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Spondyloenchondrodysplasia with immune dysregulation (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ICD-11 More detail]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ORDO Disease]
Genes related to phenotype
- Phosphatase, acid, type 5, tartrate-resistant [OMIM gene]
HPO term(s)
- Antinuclear antibody positivity [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Cellular immunodeficiency [HPO term]
- Cerebral calcification [HPO term]
- Childhood onset [HPO term]
- Combined immunodeficiency [HPO term]
- Congenital onset [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hypermelanotic macule [HPO term]
- Hypopigmented skin patches on arms [HPO term]
- Hypothyroidism [HPO term]
- Immune dysregulation [HPO term]
- Increased intervertebral space [HPO term]
- Intellectual disability, mild [HPO term]
- Interstitial fibrosis [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint swelling [HPO term]
- Juvenile onset [HPO term]
- Juvenile rheumatoid arthritis [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Lumbar hyperlordosis [HPO term]
- Lymphadenopathy [HPO term]
- Lymphopenia [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal sclerosis [HPO term]
- Metaphyseal widening [HPO term]
- Midface retrusion [HPO term]
- Narrow nose [HPO term]
- Neutropenia [HPO term]
- Platyspondyly [HPO term]
- Pneumonia [HPO term]
- Progressive spastic quadriplegia [HPO term]
- Purpura [HPO term]
- Raynaud phenomenon [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Restrictive ventilatory defect [HPO term]
- Rheumatoid arthritis [HPO term]
- Sclerosis of skull base [HPO term]
- Sclerotic, irregular metaphyses [HPO term]
- Scoliosis [HPO term]
- Short iliac bones [HPO term]
- Short stature [HPO term]
- Spastic diplegia [HPO term]
- Spasticity [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Systemic lupus erythematosus [HPO term]
- T lymphocytopenia [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- Turricephaly [HPO term]
- Vitiligo [HPO term]
- idiopathic thrombocytopenic purpura [HPO term]
ORDO concept(s)
- Spondyloenchondrodysplasia [ORDO Disease]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloenchondrodysplasia with immune dysregulation (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ORDO Disease]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ICD-11 More detail]
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH Supplementary Concept]
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH concept]

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