PNRIID
MCID: PRP102
MIFTS: 19

Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development (PNRIID)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Peripheral Neuropathy, Autosomal Recessive, with or Without...

MalaCards integrated aliases for Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development:

Name: Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 58 76 6
Pnriid 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
variable phenotype and severity
onset in infancy or first decade


HPO:

33
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development:
Onset and clinical course slow progression


Classifications:



Summaries for Peripheral Neuropathy, Autosomal Recessive, with or Without...

OMIM : 58 Autosomal recessive peripheral neuropathy with or without impaired intellectual development is an early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. Most affected individuals also have impaired intellectual development, although some have normal cognition. Electrophysiologic testing and sural nerve biopsy are most compatible with an axonal motor neuropathy; some patients may show signs of demyelination. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis (summary by Ylikallio et al., 2017). (618124)

MalaCards based summary : Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development, is also known as pnriid. An important gene associated with Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development is MCM3AP (Minichromosome Maintenance Complex Component 3 Associated Protein). Affiliated tissues include eye and testes, and related phenotypes are ophthalmoplegia and distal sensory impairment

UniProtKB/Swiss-Prot : 76 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development: An autosomal recessive disorder characterized by early childhood-onset of peripheral sensorimotor neuropathy, progressive distal muscle weakness, atrophy in hands and feet, and gait difficulties, often with loss of ambulation. Most affected individuals also have impaired intellectual development, although some have normal cognition. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis.

Related Diseases for Peripheral Neuropathy, Autosomal Recessive, with or Without...

Symptoms & Phenotypes for Peripheral Neuropathy, Autosomal Recessive, with or Without...

Human phenotypes related to Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ophthalmoplegia 33 very rare (1%) HP:0000602
2 distal sensory impairment 33 very rare (1%) HP:0002936
3 delayed speech and language development 33 HP:0000750
4 strabismus 33 HP:0000486
5 abnormality of the foot 33 HP:0001760
6 motor delay 33 HP:0001270
7 areflexia 33 HP:0001284
8 hyporeflexia 33 HP:0001265
9 foot dorsiflexor weakness 33 HP:0009027
10 generalized hypotonia 33 HP:0001290
11 peripheral axonal neuropathy 33 HP:0003477
12 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
axonal neuropathy
distal sensory impairment, mild (in some patients)
sensorimotor peripheral neuropathy, primarily axonal
more
Muscle Soft Tissue:
hypotonia
distal muscle weakness, neurogenic
distal muscle atrophy, neurogenic

Head And Neck Mouth:
high arched palate

Skeletal:
distal contractures

Skeletal Hands:
clawed hands

Head And Neck Eyes:
strabismus
ophthalmoplegia (in some patients)
abnormal eye movements (in some patients)

Neurologic Central Nervous System:
unsteady gait
delayed motor development
speech delay
learning difficulties
loss of ambulation
more
Skeletal Feet:
foot deformities
foot drop

Growth Height:
short stature (in some patients)

Growth Weight:
obesity (in some patients)

Endocrine Features:
premature ovarian failure (1 family)

Clinical features from OMIM:

618124

Drugs & Therapeutics for Peripheral Neuropathy, Autosomal Recessive, with or Without...

Search Clinical Trials , NIH Clinical Center for Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development

Genetic Tests for Peripheral Neuropathy, Autosomal Recessive, with or Without...

Anatomical Context for Peripheral Neuropathy, Autosomal Recessive, with or Without...

MalaCards organs/tissues related to Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development:

42
Eye, Testes

Publications for Peripheral Neuropathy, Autosomal Recessive, with or Without...

Articles related to Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development:

# Title Authors Year
1
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. ( 29982295 )
2018
2
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. ( 28969388 )
2017
3
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. ( 28633435 )
2017

Variations for Peripheral Neuropathy, Autosomal Recessive, with or Without...

ClinVar genetic disease variations for Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCM3AP NM_003906.4(MCM3AP): c.2743G> A (p.Glu915Lys) single nucleotide variant Pathogenic rs483352869 GRCh37 Chromosome 21, 47686942: 47686942
2 MCM3AP NM_003906.4(MCM3AP): c.2743G> A (p.Glu915Lys) single nucleotide variant Pathogenic rs483352869 GRCh38 Chromosome 21, 46267028: 46267028
3 MCM3AP NM_003906.4(MCM3AP): c.3814G> A (p.Val1272Met) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46256907: 46256907
4 MCM3AP NM_003906.4(MCM3AP): c.3814G> A (p.Val1272Met) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47676821: 47676821
5 MCM3AP NM_003906.4(MCM3AP): c.443delC (p.Pro148Leufs) deletion Pathogenic GRCh38 Chromosome 21, 46284844: 46284844
6 MCM3AP NM_003906.4(MCM3AP): c.443delC (p.Pro148Leufs) deletion Pathogenic GRCh37 Chromosome 21, 47704758: 47704758
7 MCM3AP NM_003906.4(MCM3AP): c.2667C> A (p.Tyr889Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47687018: 47687018
8 MCM3AP NM_003906.4(MCM3AP): c.2667C> A (p.Tyr889Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46267104: 46267104
9 MCM3AP NM_003906.4(MCM3AP): c.2600C> A (p.Ala867Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46270429: 46270429
10 MCM3AP NM_003906.4(MCM3AP): c.2600C> A (p.Ala867Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47690343: 47690343
11 MCM3AP NM_003906.4(MCM3AP): c.2633G> A (p.Arg878His) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46267138: 46267138
12 MCM3AP NM_003906.4(MCM3AP): c.2633G> A (p.Arg878His) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47687052: 47687052
13 MCM3AP NM_003906.4(MCM3AP): c.2851T> C (p.Ser951Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47686019: 47686019
14 MCM3AP NM_003906.4(MCM3AP): c.2851T> C (p.Ser951Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46266105: 46266105
15 MCM3AP NM_003906.4(MCM3AP): c.2609T> C (p.Leu870Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47690334: 47690334
16 MCM3AP NM_003906.4(MCM3AP): c.2609T> C (p.Leu870Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46270420: 46270420

Expression for Peripheral Neuropathy, Autosomal Recessive, with or Without...

Search GEO for disease gene expression data for Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development.

Pathways for Peripheral Neuropathy, Autosomal Recessive, with or Without...

GO Terms for Peripheral Neuropathy, Autosomal Recessive, with or Without...

Sources for Peripheral Neuropathy, Autosomal Recessive, with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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