CONRIBA
MCID: NRD117
MIFTS: 14

Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities (CONRIBA)

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

MalaCards integrated aliases for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities:

Name: Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities 57
Neurodegeneration, Childhood-Onset, Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities 57
Conriba 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
de novo mutation
onset in infancy or early childhood
three unrelated patients have been reported (last curated february 2021)


Classifications:



External Ids:

OMIM® 57 619173

Summaries for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

OMIM® : 57 Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. Although overt seizures are not observed, some patients may have episodic hypertonia or apnea, and EEG may show nonspecific abnormalities. Brain imaging shows unique diffusion restriction signal abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Early death may occur (summary by Polovitskaya et al., 2020). (619173) (Updated 05-Mar-2021)

MalaCards based summary : Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities, is also known as neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities. An important gene associated with Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities is CLCN6 (Chloride Voltage-Gated Channel 6). Affiliated tissues include brain, cerebellum and eye.

Related Diseases for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Symptoms & Phenotypes for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
strabismus
amblyopia
poor eye contact
esotropia
more
Respiratory:
respiratory insufficiency
hypoventilation
mechanical ventilation

Growth Height:
short stature

Genitourinary Bladder:
neurogenic bladder

Growth Other:
poor overall growth

Head And Neck Face:
hypotonic facies
dysmorphic features (patient a)

Skin Nails Hair Hair:
trichorrhexis nodosa (patient a)

Skin Nails Hair Skin:
hyperhidrosis

Neurologic Central Nervous System:
global developmental delay
inability to walk
neurodegeneration
eeg abnormalities
impaired intellectual development
more
Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Muscle Soft Tissue:
hypotonia
myopathy, mild
nonspecific myopathic changes seen on muscle biopsy

Metabolic Features:
poor temperature regulation

Skin Nails Hair Skin Histology:
abnormal elastic fibers (patient a)

Neurologic Peripheral Nervous System:
sensory peripheral neuropathy

Clinical features from OMIM®:

619173 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Search Clinical Trials , NIH Clinical Center for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities

Genetic Tests for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Anatomical Context for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

MalaCards organs/tissues related to Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities:

40
Brain, Cerebellum, Eye

Publications for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Articles related to Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities:

# Title Authors PMID Year
1
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration. 57
33217309 2020

Variations for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Expression for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Search GEO for disease gene expression data for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities.

Pathways for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

GO Terms for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

Sources for Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....