NERIB
MCID: NRD106
MIFTS: 23

Neurodegeneration, Infantile-Onset, Biotin-Responsive (NERIB)

Categories: Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases

Aliases & Classifications for Neurodegeneration, Infantile-Onset, Biotin-Responsive

MalaCards integrated aliases for Neurodegeneration, Infantile-Onset, Biotin-Responsive:

Name: Neurodegeneration, Infantile-Onset, Biotin-Responsive 57 73 29 6
Sodium-Dependent Multivitamin Transporter Deficiency 57 73
Smvt Deficiency 57 73
Nerib 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
onset in infancy
some patients have normal early development for the first 12 months
treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement
three patients from 2 unrelated families have been reported (last curated july 2020)


HPO:

31
neurodegeneration, infantile-onset, biotin-responsive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodegeneration, Infantile-Onset, Biotin-Responsive

OMIM® : 57 Infantile-onset biotin-responsive neurodegeneration (NERIB) is an autosomal recessive disorder characterized by onset of developmental regression with loss of early motor and cognitive milestones in the first year or so of life. Some patients may have normal early development before the onset of symptoms. Affected individuals show growth retardation with decreasing head circumference and poor feeding. More variable features may include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum. Treatment with biotin, pantothenic acid, and alpha-lipoic acid has been shown to result in clinical improvement (summary by Byrne et al., 2019). (618973) (Updated 05-Mar-2021)

MalaCards based summary : Neurodegeneration, Infantile-Onset, Biotin-Responsive, is also known as sodium-dependent multivitamin transporter deficiency. An important gene associated with Neurodegeneration, Infantile-Onset, Biotin-Responsive is SLC5A6 (Solute Carrier Family 5 Member 6). Affiliated tissues include brain, pons and bone, and related phenotypes are spasticity and nystagmus

UniProtKB/Swiss-Prot : 73 Neurodegeneration, infantile-onset, biotin-responsive: An autosomal recessive disorder characterized by early infantile onset, progressive neurodegeneration, global developmental delay, and developmental regression with loss of early motor and cognitive milestones. Additional variable features include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement.

Related Diseases for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Symptoms & Phenotypes for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Human phenotypes related to Neurodegeneration, Infantile-Onset, Biotin-Responsive:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 nystagmus 31 very rare (1%) HP:0000639
3 global developmental delay 31 very rare (1%) HP:0001263
4 microcephaly 31 very rare (1%) HP:0000252
5 cerebral palsy 31 very rare (1%) HP:0100021
6 polymicrogyria 31 very rare (1%) HP:0002126
7 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
8 poor head control 31 very rare (1%) HP:0002421
9 cerebellar atrophy 31 very rare (1%) HP:0001272
10 cerebral atrophy 31 very rare (1%) HP:0002059
11 gastrostomy tube feeding in infancy 31 very rare (1%) HP:0011471
12 decreased circulating igg level 31 very rare (1%) HP:0004315
13 hypoplasia of the pons 31 very rare (1%) HP:0012110
14 enlarged cisterna magna 31 very rare (1%) HP:0002280
15 episodic vomiting 31 very rare (1%) HP:0002572
16 clubbing of fingers 31 very rare (1%) HP:0100759
17 seizure 31 very rare (1%) HP:0001250
18 peripheral neuropathy 31 HP:0009830

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
ataxia
developmental regression
more
Muscle Soft Tissue:
hypertonia

Abdomen Gastrointestinal:
poor feeding
tube feeding
cyclic vomiting

Head And Neck Head:
microcephaly, acquired, progressive

Neurologic Peripheral Nervous System:
mixed demyelinating and axonal sensorimotor peripheral neuropathy (in some patients)

Head And Neck Eyes:
nystagmus
esotropia
dyskinetic saccades

Immunology:
recurrent infections
hypogammaglobulinemia

Growth Other:
poor overall growth

Skeletal:
osteopenia (1 patient)
pathologic fractures (1 patient)

Clinical features from OMIM®:

618973 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Search Clinical Trials , NIH Clinical Center for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Genetic Tests for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Genetic tests related to Neurodegeneration, Infantile-Onset, Biotin-Responsive:

# Genetic test Affiliating Genes
1 Neurodegeneration, Infantile-Onset, Biotin-Responsive 29 SLC5A6

Anatomical Context for Neurodegeneration, Infantile-Onset, Biotin-Responsive

MalaCards organs/tissues related to Neurodegeneration, Infantile-Onset, Biotin-Responsive:

40
Brain, Pons, Bone

Publications for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Articles related to Neurodegeneration, Infantile-Onset, Biotin-Responsive:

# Title Authors PMID Year
1
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. 57 6
31754459 2019
2
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 6 57
27904971 2017
3
Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 57
29669219 2018

Variations for Neurodegeneration, Infantile-Onset, Biotin-Responsive

ClinVar genetic disease variations for Neurodegeneration, Infantile-Onset, Biotin-Responsive:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC5A6 NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) Microsatellite Pathogenic 975021 2:27429781-27429782 2:27206913-27206914
2 SLC5A6 NM_021095.4(SLC5A6):c.1199G>C (p.Arg400Thr) SNV Pathogenic 975022 2:27426109-27426109 2:27203241-27203241
3 SLC5A6 NM_021095.4(SLC5A6):c.280C>T (p.Arg94Ter) SNV Pathogenic 975023 2:27430239-27430239 2:27207371-27207371
4 SLC5A6 NM_021095.4(SLC5A6):c.368G>T (p.Arg123Leu) SNV Pathogenic 975024 2:27430151-27430151 2:27207283-27207283

Expression for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Search GEO for disease gene expression data for Neurodegeneration, Infantile-Onset, Biotin-Responsive.

Pathways for Neurodegeneration, Infantile-Onset, Biotin-Responsive

GO Terms for Neurodegeneration, Infantile-Onset, Biotin-Responsive

Sources for Neurodegeneration, Infantile-Onset, Biotin-Responsive

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....