MCID: IMM130
MIFTS: 18

Immunoneurologic Disorder, X-Linked

Categories: Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Immunoneurologic Disorder, X-Linked

MalaCards integrated aliases for Immunoneurologic Disorder, X-Linked:

Name: Immunoneurologic Disorder, X-Linked 57
Woods-Black-Norbury Syndrome 57 59
Woods Black Norbury Syndrome 53 73
X-Linked Immunoneurological Disorder 53
X-Linked Immunoneurologic Disorder 59
Neonatal Death Immune Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
x-linked immunoneurologic disorder
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
immunoneurologic disorder, x-linked:
Mortality/Aging neonatal death
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 300076
Orphanet 59 ORPHA2571
UMLS via Orphanet 74 C1848144
ICD10 via Orphanet 34 D82.8
MedGen 42 C1848144
UMLS 73 C1848144

Summaries for Immunoneurologic Disorder, X-Linked

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2571Disease definitionX-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.EpidemiologyThe syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations.Clinical descriptionSymptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision, and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period.EtiologyThe genelocus has been mapped to Xq26-qter.Differential diagnosisThe syndrome should be considered in the differential diagnosis of hereditary spastic paraplegia in females and of other causes of severe neonatal hypotonia in males.Genetic counselingThe condition is thought to be transmitted in an X-linked dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Immunoneurologic Disorder, X-Linked, is also known as woods-black-norbury syndrome. An important gene associated with Immunoneurologic Disorder, X-Linked is INDX (Immunoneurologic Syndrome X-Linked, Of Wood, Black, And Norbury). Related phenotypes are functional abnormality of the bladder and nystagmus

Description from OMIM: 300076

Related Diseases for Immunoneurologic Disorder, X-Linked

Symptoms & Phenotypes for Immunoneurologic Disorder, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Neuro:
brisk reflexes
severe neonatal hypotonia in males
complex hereditary spastic paraplegia in females

Growth:
low birth weight in males

GU:
poor bladder function

Misc:
neonatal death in males

Immunology:
igg2 deficiency

Muscle:
slowly progressive proximal muscle weakness

Eyes:
static reduced night vision


Clinical features from OMIM:

300076

Human phenotypes related to Immunoneurologic Disorder, X-Linked:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 functional abnormality of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000009
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 nyctalopia 59 32 frequent (33%) Frequent (79-30%) HP:0000662
4 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
5 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
6 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
7 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
8 immunoglobulin igg2 deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008348
9 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
10 abnormality of the pleura 59 32 occasional (7.5%) Occasional (29-5%) HP:0002103
11 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
12 abnormality of nervous system physiology 59 Frequent (79-30%)
13 spastic paraplegia 32 HP:0001258
14 brisk reflexes 32 HP:0001348
15 small for gestational age 32 HP:0001518
16 severe neonatal hypotonia in males 32 HP:0006830
17 progressive proximal muscle weakness 32 HP:0009073

Drugs & Therapeutics for Immunoneurologic Disorder, X-Linked

Search Clinical Trials , NIH Clinical Center for Immunoneurologic Disorder, X-Linked

Genetic Tests for Immunoneurologic Disorder, X-Linked

Anatomical Context for Immunoneurologic Disorder, X-Linked

Publications for Immunoneurologic Disorder, X-Linked

Variations for Immunoneurologic Disorder, X-Linked

Expression for Immunoneurologic Disorder, X-Linked

Search GEO for disease gene expression data for Immunoneurologic Disorder, X-Linked.

Pathways for Immunoneurologic Disorder, X-Linked

GO Terms for Immunoneurologic Disorder, X-Linked

Sources for Immunoneurologic Disorder, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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