Nakajo-nishimura Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Nakajo-nishimura Syndrome

PSMB8

View recommended genes panels

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

— Currently we don't have prevalence information about this disease (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.

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 Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN 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 %

You can get up to 18 more panels with our dedicated tool

Learn more

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 MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME DYSTONIA 11, MYOCLONIC; DYT11 LUJAN-FRYNS SYNDROME SCHINDLER DISEASE, TYPE I JOUBERT SYNDROME 24; JBTS24 TRICHOHEPATOENTERIC SYNDROME 2; THES2 NEURAMINIDASE DEFICIENCY