JMP 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 Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome |
Number of Symptoms | 62 |
OrphanetNr: | 324999 |
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: |
Childhood [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:0000509) | Conjunctivitis | 47 / 7739 | ||||
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(HPO:0100534) | Episcleritis | 9 / 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:0002653) | Bone pain | 75 / 7739 | ||||
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(HPO:0100759) | Clubbing of fingers | 40 / 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:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0002829) | Arthralgia | 79 / 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: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:0010702) | Increased antibody level in blood | 29 / 7739 | ||||
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(HPO:0001935) | Microcytic anemia | 32 / 7739 | ||||
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(HPO:0002155) | Hypertriglyceridemia | 67 / 7739 | ||||
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(HPO:0003565) | Elevated erythrocyte sedimentation rate | 31 / 7739 | ||||
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(HPO:0011227) | Elevated C-reactive protein level | 55 / 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:0001324) | Muscle weakness | 859 / 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) | Lesions predominantly on face and limbs | 4 / 7739 | ||||
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(OMIM) | Abnormal liver enzymes, intermittent | 5 / 7739 | ||||
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(OMIM) | Fever, intermittent, recurrent (in some) | 4 / 7739 | ||||
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(OMIM) | Residual hyperpigmentation | 4 / 7739 | ||||
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(OMIM) | Finger contractures, severe | 4 / 7739 | ||||
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(OMIM) | Prominent abdomen | 7 / 7739 | ||||
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(OMIM) | Foot contractures, severe | 4 / 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) | Loss of facial subcutaneous fat | 4 / 7739 | ||||
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(OMIM) | Mononuclear cell infiltrates | 4 / 7739 | ||||
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(OMIM) | Lipodystrophy, generalized, panniculitis-induced (in some) | 4 / 7739 | ||||
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(OMIM) | Increased IgG | 4 / 7739 | ||||
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(OMIM) | Increased IL-6 | 4 / 7739 | ||||
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(OMIM) | Erythematous nodular skin lesions | 4 / 7739 | ||||
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(OMIM) | Increased IL-8 | 4 / 7739 | ||||
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(OMIM) | Toe contractures, severe | 4 / 7739 | ||||
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(OMIM) | Narrowing of the joint spaces | 4 / 7739 | ||||
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(OMIM) | Antinuclear autoantibodies (in some) | 4 / 7739 | ||||
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(OMIM) | Increased IgA | 4 / 7739 | ||||
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(MedDRA:10053857) | Partial lipodystrophy | 8 / 7739 | ||||
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(OMIM) | Periorbital swelling due to violaceous plaques on the eyelids | 4 / 7739 | ||||
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(OMIM) | Finger swelling | 5 / 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) | Dry, stiff skin | 4 / 7739 | ||||
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(OMIM) | Hand contractures, severe | 4 / 7739 | ||||
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(OMIM) | Annular erythematous edematous plaques | 4 / 7739 | ||||
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(OMIM) | Lesions become purpuric | 4 / 7739 | ||||
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(OMIM) | Increased gamma-interferon | 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 ... |