CANDLE 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 Chromic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome |
Number of Symptoms | 62 |
OrphanetNr: | 325004 |
OMIM Id: |
256040
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0012471) | Thick vermilion border | 115 / 7739 | ||||
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(HPO:0000158) | Macroglossia | 119 / 7739 | ||||
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(HPO:0100534) | Episcleritis | 9 / 7739 | ||||
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(HPO:0000509) | Conjunctivitis | 47 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0100759) | Clubbing of fingers | 40 / 7739 | ||||
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(HPO:0002653) | Bone pain | 75 / 7739 | ||||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0002135) | Basal ganglia calcification | 37 / 7739 | ||||
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(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
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(HPO:0002829) | Arthralgia | 79 / 7739 | ||||
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(HPO:0100807) | Long fingers | 23 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0011675) | Arrhythmia | 226 / 7739 | ||||
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(HPO:0001635) | Congestive heart failure | 232 / 7739 | ||||
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(HPO:0001935) | Microcytic anemia | 32 / 7739 | ||||
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(HPO:0010702) | Increased antibody level in blood | 29 / 7739 | ||||
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(HPO:0002155) | Hypertriglyceridemia | 67 / 7739 | ||||
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(HPO:0011227) | Elevated C-reactive protein level | 55 / 7739 | ||||
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(HPO:0003565) | Elevated erythrocyte sedimentation rate | 31 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0003700) | Generalized amyotrophy | 39 / 7739 | ||||
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(HPO:0100295) | Muscle fiber atrophy | 22 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0012490) | Panniculitis | 7 / 7739 | ||||
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(OMIM) | Atypical mononuclear cells with many mitoses | 4 / 7739 | ||||
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(OMIM) | Marked loss of subcutaneous fat in the limbs, face, and sometimes chest | 4 / 7739 | ||||
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(OMIM) | Toe contractures, severe | 4 / 7739 | ||||
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(OMIM) | Increased IL-8 | 4 / 7739 | ||||
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(OMIM) | Lipodystrophy, generalized, panniculitis-induced (in some) | 4 / 7739 | ||||
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(OMIM) | Dry, stiff skin | 4 / 7739 | ||||
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(OMIM) | Abnormal liver enzymes, intermittent | 5 / 7739 | ||||
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(OMIM) | Prominent abdomen | 7 / 7739 | ||||
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(MedDRA:10053857) | Partial lipodystrophy | 8 / 7739 | ||||
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(MedDRA:10061156) | Finger deformity | 5 / 7739 | ||||
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(OMIM) | Frostbitten hands | 4 / 7739 | ||||
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(OMIM) | Lesions become purpuric | 4 / 7739 | ||||
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(OMIM) | Foot contractures, severe | 4 / 7739 | ||||
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(OMIM) | Increased IgA | 4 / 7739 | ||||
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(OMIM) | Annular erythematous edematous plaques | 4 / 7739 | ||||
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(OMIM) | Mononuclear cell infiltrates | 4 / 7739 | ||||
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(OMIM) | Finger contractures, severe | 4 / 7739 | ||||
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(OMIM) | Increased IL-6 | 4 / 7739 | ||||
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(OMIM) | Fever, intermittent, recurrent (in some) | 4 / 7739 | ||||
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(OMIM) | Antinuclear autoantibodies (in some) | 4 / 7739 | ||||
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(OMIM) | Loss of facial subcutaneous fat | 4 / 7739 | ||||
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(OMIM) | Residual hyperpigmentation | 4 / 7739 | ||||
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(OMIM) | Hand contractures, severe | 4 / 7739 | ||||
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(OMIM) | Erythematous nodular skin lesions | 4 / 7739 | ||||
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(OMIM) | Increased IgG | 4 / 7739 | ||||
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(OMIM) | Finger swelling | 5 / 7739 | ||||
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(OMIM) | Periorbital swelling due to violaceous plaques on the eyelids | 4 / 7739 | ||||
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(OMIM) | Lesions predominantly on face and limbs | 4 / 7739 | ||||
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(OMIM) | Increased gamma-interferon | 4 / 7739 | ||||
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(OMIM) | Narrowing of the joint spaces | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |