Nakajo-nishimura Syndrome

Description

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

Clinical Features

Top most frequent phenotypes and symptoms related to Nakajo-nishimura Syndrome

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Congestive heart failure
  • Intellectual disability, mild
  • Splenomegaly
  • Arrhythmia
  • Hyperhidrosis

And another 26 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Nakajo-nishimura Syndrome Is also known as nns, secondary hypertrophic osteoperiostosis with pernio, amyotrophy-fat tissue anomaly syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Nakajo-nishimura Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
100 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Partial Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
100 %
PSMB8.

By Institute for Human Genetics University Clinic Freiburg (Germany).

PSMB8
Specificity
100 %
Genes
100 %
Autoinflammation, lipodystrophy and dermatosis syndrome (sequence analysis of PSMB8 gene).

By CGC Genetics (Portugal).

PSMB8
Specificity
100 %
Genes
100 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics (Portugal).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, AGPAT2, FBN1, AKT2, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %

We have 18 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROPHTHALMIA WITH LIMB ANOMALIES; MLA LYMPHOMA, NON-HODGKIN, FAMILIAL DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more