SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION

General Information (adopted from Orphanet):

Synonyms, Signs: COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
SPENCDI
Number of Symptoms 43
OrphanetNr:
OMIM Id: 607944
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005576) Tubulointerstitial fibrosis 32 / 7739
2
(HPO:0011108) Recurrent sinusitis 30 / 7739
3
(HPO:0000460) Narrow nose 14 / 7739
4
(HPO:0000369) Low-set ears 372 / 7739
5
(HPO:0000403) Recurrent otitis media 61 / 7739
6
(HPO:0000821) Hypothyroidism 141 / 7739
7
(HPO:0008191) Thyroid agenesis 11 / 7739
8
(HPO:0000926) Platyspondyly 150 / 7739
9
(HPO:0002657) Spondylometaphyseal dysplasia 12 / 7739
10
(HPO:0003025) Metaphyseal irregularity 42 / 7739
11
(HPO:0004979) Metaphyseal sclerosis 5 / 7739
12
(HPO:0003301) Irregular vertebral endplates 25 / 7739
13
(HPO:0001370) Rheumatoid arthritis 12 / 7739
14
(HPO:0004322) Short stature 1232 / 7739
15
(HPO:0001045) Vitiligo 13 / 7739
16
(HPO:0000979) Purpura 27 / 7739
17
(HPO:0001034) Hypermelanotic macule 22 / 7739
18
(HPO:0007526) Hypopigmented skin patches on arms 1 / 7739
19
(HPO:0005403) T lymphocytopenia 10 / 7739
20
(HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
21
(HPO:0002205) Recurrent respiratory infections 254 / 7739
22
(HPO:0002091) Restrictive ventilatory defect 46 / 7739
23
(HPO:0002090) Pneumonia 59 / 7739
24
(HPO:0002958) Immune dysregulation 5 / 7739
25
(HPO:0005387) Combined immunodeficiency 5 / 7739
26
(HPO:0005374) Cellular immunodeficiency 5 / 7739
27
(HPO:0002719) Recurrent infections 107 / 7739
28
(HPO:0002716) Lymphadenopathy 129 / 7739
29
(OMIM) Narrow, pointy nose 1 / 7739
30
(OMIM) Decreased T cell response to mitogens 1 / 7739
31
(OMIM) Interstitial fibrosis 24 / 7739
32
(OMIM) Sclerotic, irregular metaphyses (distal radii and ulnae, distal femurs, proximal fibulae) 1 / 7739
33
(OMIM) Normal hair shaft morphology 1 / 7739
34
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
(OMIM) Recurrent respiratory tract infections 3 / 7739
36
(OMIM) Decreased specific antibodies 1 / 7739
37
(OMIM) Otitis media, multiple episodes 1 / 7739
38
(OMIM) Normal intelligence 81 / 7739
39
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
(OMIM) Autoimmune disorders (i.e., ITP, juvenile rheumatoid arthritis (JRA), hypothyroidism, Crohn disease) 1 / 7739
41
(OMIM) Normal to elevated IgG 1 / 7739
42
(HPO:0003621) Juvenile onset 105 / 7739
43
(OMIM) Combined humoral and cellular immunodeficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Roifman and Melamed (2003) described a syndrome of combined immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia in 4 patients, 2 of whom were brother and sister. The parents of the affected sibs were first cousins of Portuguese descent. The 18-year-old ...
Molecular genetics OMIM In a 27-year-old French woman with spondyloenchondrodysplasia mapping to chromosome 19p13, who was originally reported by Navarro et al. (2008), Briggs et al. (2011) performed genotyping that indicated a possible homozygous deletion within the ACP5 gene (171640); quantitative ...