MCID: IMM130
MIFTS: 17

Immunoneurologic Disorder, X-Linked

Categories: Blood diseases, Immune diseases, Rare 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 58
Woods Black Norbury Syndrome 20 70
X-Linked Immunoneurological Disorder 20
X-Linked Immunoneurologic Disorder 58
Neonatal Death Immune Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant


HPO:

31
immunoneurologic disorder, x-linked:
Onset and clinical course neonatal death
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 300076
ICD10 via Orphanet 33 D82.8
UMLS via Orphanet 71 C1848144
Orphanet 58 ORPHA2571
MedGen 41 C1848144
UMLS 70 C1848144

Summaries for Immunoneurologic Disorder, X-Linked

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2571 Definition X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. Epidemiology The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Clinical description Symptomatic 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. Etiology The gene locus has been mapped to Xq26-qter. Differential diagnosis The 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 counseling The condition is thought to be transmitted in an X-linked dominant manner.

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 hyperreflexia and nystagmus

More information from OMIM: 300076

Related Diseases for Immunoneurologic Disorder, X-Linked

Symptoms & Phenotypes for Immunoneurologic Disorder, X-Linked

Human phenotypes related to Immunoneurologic Disorder, X-Linked:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
3 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
4 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
5 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
6 nyctalopia 58 31 very rare (1%) Frequent (79-30%) HP:0000662
7 functional abnormality of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000009
8 decreased circulating igg2 level 31 frequent (33%) HP:0008348
9 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
10 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
11 abnormal pleura morphology 31 occasional (7.5%) HP:0002103
12 neonatal hypotonia 31 HP:0001319
13 abnormality of the pleura 58 Occasional (29-5%)
14 spastic paraplegia 31 HP:0001258
15 progressive proximal muscle weakness 31 HP:0009073
16 small for gestational age 31 HP:0001518
17 immunoglobulin igg2 deficiency 58 Frequent (79-30%)
18 brisk reflexes 31 HP:0001348
19 abnormality of nervous system physiology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
brisk reflexes
severe neonatal hypotonia in males
complex hereditary spastic paraplegia in females

Growth:
low birth weight in males

G U:
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 (Updated 05-Apr-2021)

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

Articles related to Immunoneurologic Disorder, X-Linked:

# Title Authors PMID Year
1
Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. 57
7783167 1995

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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