MCID: ATN007
MIFTS: 34

Autoinflammation, Lipodystrophy, and Dermatosis Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases categories

Summaries for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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OMIM:47 This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular... (256040) more...

MalaCards based summary: Autoinflammation, Lipodystrophy, and Dermatosis Syndrome, also known as nakajo-nishimura syndrome, is related to lipodystrophy and nakajo syndrome, and has symptoms including skin rash, limitation of joint mobility and splenomegaly. An important gene associated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome is PSMB8 (proteasome (prosome, macropain) subunit, beta type, 8). Affiliated tissues include neutrophil, skin and heart.

Genetics Home Reference:23 Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).

Aliases & Classifications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Autoinflammation, Lipodystrophy, and Dermatosis Syndrome, Aliases & Descriptions:

Name: Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 47 11 22 23
Nakajo-Nishimura Syndrome 43 23 49 62
Secondary Hypertrophic Osteoperiostosis with Pernio 43 49
Amyotrophy - Fat Tissue Anomaly 43 49
Candle Syndrome 43 49
Nns 43 49
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 49
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 43
 
Japanese Autoinflammatory Syndrome with Lipodystrophy 23
Amyotrophy Fat Tissue Anomaly 43
Nakajo Nishimura Syndrome 43
Nakajo Syndrome 23
Jmp Syndrome 62
Aldd 23
Nkjo 23
Jasl 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

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nakajo-nishimura syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult
candle syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM47 256040
Orphanet49 2615, 325004
ICD10 via Orphanet28 L98.8

Related Diseases for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Diseases related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy10.8
2nakajo syndrome10.5
3liver disease10.1
4proteasome disability syndrome10.1
5tay-sachs disease10.1
6hepatitis10.1
7polydactyly10.1
8mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.1
9teratoma10.1

Graphical network of diseases related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:



Diseases related to autoinflammation, lipodystrophy, and dermatosis syndrome

Symptoms for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Symptoms by clinical synopsis from OMIM:

256040

Clinical features from OMIM:

256040

Symptoms:

 49 (show all 35)
  • face/facial anomalies
  • arthrogryposis
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • lipoatrophy
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • hyperostosis
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • abnormal fat distribution/lipodystrophy
  • fever/chilling
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • thick/dowel fingers
  • terminal broadening/clubbing of toes
  • hyperhidrosis/increased sweating
  • lymphadenopathy/polyadenopathies
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hypergammaglobulinemia
  • long/large/bulbous nose
  • thick lips
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • long/large ear
  • long hand/arachnodactyly
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiomegaly
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • heart/cardiac failure
  • pyramidal syndrome
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • microcytic anemia

HPO human phenotypes related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

(show all 65)
id Description Frequency HPO Source Accession
1 skin rash hallmark (90%) HP:0000988
2 limitation of joint mobility hallmark (90%) HP:0001376
3 splenomegaly hallmark (90%) HP:0001744
4 hepatomegaly hallmark (90%) HP:0002240
5 arthrogryposis multiplex congenita hallmark (90%) HP:0002804
6 arthralgia hallmark (90%) HP:0002829
7 abnormality of temperature regulation hallmark (90%) HP:0004370
8 lipoatrophy hallmark (90%) HP:0100578
9 hyperostosis hallmark (90%) HP:0100774
10 hyperhidrosis typical (50%) HP:0000975
11 muscle weakness typical (50%) HP:0001324
12 lymphadenopathy typical (50%) HP:0002716
13 amyotrophy typical (50%) HP:0003202
14 hypergammaglobulinemia typical (50%) HP:0010702
15 clubbing of toes typical (50%) HP:0100760
16 abnormality of the tongue occasional (7.5%) HP:0000157
17 thick lower lip vermilion occasional (7.5%) HP:0000179
18 macrotia occasional (7.5%) HP:0000400
19 arachnodactyly occasional (7.5%) HP:0001166
20 congestive heart failure occasional (7.5%) HP:0001635
21 cardiomegaly occasional (7.5%) HP:0001640
22 microcytic anemia occasional (7.5%) HP:0001935
23 respiratory insufficiency occasional (7.5%) HP:0002093
24 abnormal nasal morphology occasional (7.5%) HP:0005105
25 abnormality of pyramidal motor function occasional (7.5%) HP:0007256
26 arrhythmia occasional (7.5%) HP:0011675
27 cognitive impairment occasional (7.5%) HP:0100543
28 seizures rare (5%) HP:0001250
29 short stature rare (5%) HP:0004322
30 arrhythmia rare (5%) HP:0011675
31 autosomal recessive inheritance HP:0000007
32 macroglossia HP:0000158
33 thick lower lip vermilion HP:0000179
34 macrotia HP:0000400
35 prominent nose HP:0000448
36 conjunctivitis HP:0000509
37 osteopenia HP:0000938
38 hyperpigmentation of the skin HP:0000953
39 large eyes HP:0001090
40 intellectual disability, mild HP:0001256
41 muscle weakness HP:0001324
42 failure to thrive HP:0001508
43 congestive heart failure HP:0001635
44 cardiomegaly HP:0001640
45 splenomegaly HP:0001744
46 microcytic anemia HP:0001935
47 basal ganglia calcification HP:0002135
48 hypertriglyceridemia HP:0002155
49 hepatomegaly HP:0002240
50 bone pain HP:0002653
51 arthralgia HP:0002829
52 elevated hepatic transaminases HP:0002910
53 elbow flexion contracture HP:0002987
54 amyotrophy HP:0003202
55 elevated erythrocyte sedimentation rate HP:0003565
56 flexion contracture of toe HP:0005830
57 adipose tissue loss HP:0008887
58 lipodystrophy HP:0009125
59 hypergammaglobulinemia HP:0010702
60 erythema HP:0010783
61 panniculitis HP:0012490
62 camptodactyly of finger HP:0100490
63 episcleritis HP:0100534
64 clubbing of fingers HP:0100759
65 long fingers HP:0100807

Drugs & Therapeutics for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Drug clinical trials:

Search ClinicalTrials for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Search NIH Clinical Center for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Genetic Tests for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Genetic tests related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

id Genetic test Affiliating Genes
1 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome22 PSMB8

Anatomical Context for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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MalaCards organs/tissues related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

33
Neutrophil, Skin, Heart, Bone, Tongue, Eye, Liver, Lung

Animal Models for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome or affiliated genes

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Publications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

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id Symbol AA change Variation ID SNP ID
1PSMB8p.Thr75MetVAR_065291
2PSMB8p.Gly201ValVAR_066449

Clinvar genetic disease variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PSMB8PSMB8, THR75METsingle nucleotide variantPathogenic
2PSMB8NM_004159.4(PSMB8): c.590G> T (p.Gly197Val)single nucleotide variantPathogenicrs387906680GRCh37Chr 6, 32809448: 32809448
3PSMB8PSMB8, GLY201VALsingle nucleotide variantPathogenic
4PSMB8PSMB8, CYS135TERsingle nucleotide variantPathogenic

Expression for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Search GEO for disease gene expression data for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome.

Pathways for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Compounds for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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GO Terms for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Products for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet