Nakajo-Nishimura 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
NNS
NKJO
Secondary hypertrophic osteoperiostosis with pernio
Amyotrophy - fat tissue anomaly
Number of Symptoms 95
OrphanetNr: 2615
OMIM Id: 256040
ICD-10: L98.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Proteasome disability syndrome
 -Rare genetic disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000509) Conjunctivitis 47 / 7739
2
 (HPO:0001090) Large eyes 20 / 7739
3
 (HPO:0100534) Episcleritis 9 / 7739
4
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
5
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
6
 (MedDRA:10053857) Partial lipodystrophy 8 / 7739
7
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
8
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
9
 (HPO:0012490) Panniculitis 7 / 7739
10
 (HPO:0008887) Adipose tissue loss 4 / 7739
11
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
12
 (HPO:0001508) Failure to thrive 454 / 7739
13
 (HPO:0001640) Cardiomegaly Occasional [Orphanet] 81 / 7739
14
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
15
 (HPO:0011675) Arrhythmia Occasional [Orphanet] rare [HPO:skoehler] 226 / 7739
16
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
17
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
18
 (HPO:0001935) Microcytic anemia Occasional [Orphanet] 32 / 7739
19
 (HPO:0010702) Increased antibody level in blood Frequent [Orphanet] 29 / 7739
20
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
21
 (HPO:0100295) Muscle fiber atrophy 22 / 7739
22
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
23
 (HPO:0003700) Generalized amyotrophy 39 / 7739
24
 (HPO:0000158) Macroglossia Occasional [Orphanet] 119 / 7739
25
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
26
 (HPO:0007256) Abnormal pyramidal signs Occasional [Orphanet] 116 / 7739
27
 (HPO:0001256) Intellectual disability, mild 141 / 7739
28
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
29
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
30
 (HPO:0100490) Camptodactyly of finger 212 / 7739
31
 (HPO:0005830) Flexion contracture of toe 9 / 7739
32
 (HPO:0100759) Clubbing of fingers 40 / 7739
33
 (HPO:0001500) Broad finger Frequent [Orphanet] 9 / 7739
34
 (HPO:0100807) Long fingers 23 / 7739
35
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
36
 (HPO:0100760) Clubbing of toes Frequent [Orphanet] 24 / 7739
37
 (HPO:0002987) Elbow flexion contracture 64 / 7739
38
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
39
 (HPO:0000938) Osteopenia 138 / 7739
40
 (HPO:0002829) Arthralgia 79 / 7739
41
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
42
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
43
 (HPO:0100774) Hyperostosis Very frequent [Orphanet] 17 / 7739
44
 (HPO:0002653) Bone pain 75 / 7739
45
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
46
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
47
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
48
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
49
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
50
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
51
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
52
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
53
 (HPO:0000448) Prominent nose 56 / 7739
54
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
55
 (HPO:0000400) Macrotia 108 / 7739
56
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
57
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
58
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
59
 (HPO:0002135) Basal ganglia calcification 37 / 7739
60
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
61
 (HPO:0001371) Flexion contracture 220 / 7739
62
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
63
 (HPO:0001510) Growth delay 295 / 7739
64
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
65
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
66
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
67
 (MedDRA:10061156) Finger deformity 5 / 7739
68
 (OMIM) Abnormal liver enzymes, intermittent 5 / 7739
69
 (OMIM) Annular erythematous edematous plaques 4 / 7739
70
 (OMIM) Antinuclear autoantibodies (in some) 4 / 7739
71
 (OMIM) Atypical mononuclear cells with many mitoses 4 / 7739
72
 (OMIM) Dry, stiff skin 4 / 7739
73
 (OMIM) Erythematous nodular skin lesions 4 / 7739
74
 (OMIM) Fever, intermittent, recurrent (in some) 4 / 7739
75
 (OMIM) Finger contractures, severe 4 / 7739
76
 (OMIM) Finger swelling 5 / 7739
77
 (OMIM) Foot contractures, severe 4 / 7739
78
 (OMIM) Frostbitten hands 4 / 7739
79
 (OMIM) Hand contractures, severe 4 / 7739
80
 (OMIM) Increased IL-6 4 / 7739
81
 (OMIM) Increased IL-8 4 / 7739
82
 (OMIM) Increased IgA 4 / 7739
83
 (OMIM) Increased IgG 4 / 7739
84
 (OMIM) Increased gamma-interferon 4 / 7739
85
 (OMIM) Lesions become purpuric 4 / 7739
86
 (OMIM) Lesions predominantly on face and limbs 4 / 7739
87
 (OMIM) Lipodystrophy, generalized, panniculitis-induced (in some) 4 / 7739
88
 (OMIM) Loss of facial subcutaneous fat 4 / 7739
89
 (OMIM) Marked loss of subcutaneous fat in the limbs, face, and sometimes chest 4 / 7739
90
 (OMIM) Mononuclear cell infiltrates 4 / 7739
91
 (OMIM) Narrowing of the joint spaces 4 / 7739
92
 (OMIM) Periorbital swelling due to violaceous plaques on the eyelids 4 / 7739
93
 (OMIM) Prominent abdomen 7 / 7739
94
 (OMIM) Residual hyperpigmentation 4 / 7739
95
 (OMIM) Toe contractures, severe 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 ...