Proteasome disability syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
JMP SYNDROME
CANDLE
NAKAJO-NISHIMURA SYNDROME
CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME
ALDD
NKJO
PMSB8 deficiency
Number of Symptoms 62
OrphanetNr: 324977
OMIM Id: 256040
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Rare genetic systemic or rheumatologic disease
 -Rare genetic disease
Unclassified autoinflammatory syndrome
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000158) Macroglossia 119 / 7739
2
 (HPO:0012471) Thick vermilion border 115 / 7739
3
 (HPO:0000509) Conjunctivitis 47 / 7739
4
 (HPO:0100534) Episcleritis 9 / 7739
5
 (HPO:0001256) Intellectual disability, mild 141 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
8
 (HPO:0100807) Long fingers 23 / 7739
9
 (HPO:0002987) Elbow flexion contracture 64 / 7739
10
 (HPO:0000938) Osteopenia 138 / 7739
11
 (HPO:0001371) Flexion contracture 220 / 7739
12
 (HPO:0002829) Arthralgia 79 / 7739
13
 (HPO:0002135) Basal ganglia calcification 37 / 7739
14
 (HPO:0100759) Clubbing of fingers 40 / 7739
15
 (HPO:0002653) Bone pain 75 / 7739
16
 (HPO:0001744) Splenomegaly 337 / 7739
17
 (HPO:0002240) Hepatomegaly 467 / 7739
18
 (HPO:0004322) Short stature 1232 / 7739
19
 (HPO:0001508) Failure to thrive 454 / 7739
20
 (HPO:0001510) Growth delay 295 / 7739
21
 (HPO:0001635) Congestive heart failure 232 / 7739
22
 (HPO:0011675) Arrhythmia 226 / 7739
23
 (HPO:0010702) Increased antibody level in blood 29 / 7739
24
 (HPO:0001935) Microcytic anemia 32 / 7739
25
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
26
 (HPO:0011227) Elevated C-reactive protein level 55 / 7739
27
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
28
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
29
 (HPO:0100295) Muscle fiber atrophy 22 / 7739
30
 (HPO:0003700) Generalized amyotrophy 39 / 7739
31
 (HPO:0001324) Muscle weakness 859 / 7739
32
 (HPO:0012490) Panniculitis 7 / 7739
33
 (OMIM) Prominent abdomen 7 / 7739
34
 (OMIM) Toe contractures, severe 4 / 7739
35
 (OMIM) Dry, stiff skin 4 / 7739
36
 (OMIM) Atypical mononuclear cells with many mitoses 4 / 7739
37
 (OMIM) Mononuclear cell infiltrates 4 / 7739
38
 (OMIM) Loss of facial subcutaneous fat 4 / 7739
39
 (OMIM) Foot contractures, severe 4 / 7739
40
 (OMIM) Erythematous nodular skin lesions 4 / 7739
41
 (OMIM) Increased IgA 4 / 7739
42
 (OMIM) Marked loss of subcutaneous fat in the limbs, face, and sometimes chest 4 / 7739
43
 (OMIM) Hand contractures, severe 4 / 7739
44
 (OMIM) Increased IgG 4 / 7739
45
 (OMIM) Abnormal liver enzymes, intermittent 5 / 7739
46
 (OMIM) Narrowing of the joint spaces 4 / 7739
47
 (OMIM) Residual hyperpigmentation 4 / 7739
48
 (OMIM) Increased IL-6 4 / 7739
49
 (OMIM) Fever, intermittent, recurrent (in some) 4 / 7739
50
 (OMIM) Lesions become purpuric 4 / 7739
51
 (OMIM) Increased gamma-interferon 4 / 7739
52
 (MedDRA:10061156) Finger deformity 5 / 7739
53
 (OMIM) Finger contractures, severe 4 / 7739
54
 (OMIM) Annular erythematous edematous plaques 4 / 7739
55
 (OMIM) Frostbitten hands 4 / 7739
56
 (MedDRA:10053857) Partial lipodystrophy 8 / 7739
57
 (OMIM) Antinuclear autoantibodies (in some) 4 / 7739
58
 (OMIM) Lipodystrophy, generalized, panniculitis-induced (in some) 4 / 7739
59
 (OMIM) Lesions predominantly on face and limbs 4 / 7739
60
 (OMIM) Finger swelling 5 / 7739
61
 (OMIM) Periorbital swelling due to violaceous plaques on the eyelids 4 / 7739
62
 (OMIM) Increased IL-8 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent ...
Clinical Description OMIM Nakajo (1939) described 2 sibs, born of consanguineous parents, with nodular erythema, elongated and thickened fingers, and emaciation. He called the disorder 'secondary hypertrophic osteoperiostosis with pernio.' Both sibs had cardiomegaly and cardiac insufficiency. Nakajo (1939) thought the ...
Molecular genetics OMIM By genomewide homozygosity mapping followed by candidate gene sequencing of the 3 patients reported by Garg et al. (2010), Agarwal et al. (2010) identified the same homozygous mutation in the PSMB8 gene (T75M; 177046.0001). Studies of patient lymphocytes ...