PNRIID
MCID: PRP102
MIFTS: 25

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

Categories: Eye diseases, 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 57 72 29 6
Pnriid 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



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

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development, also known as pnriid, is related to neuropathy. 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 related phenotypes are short stature and obesity

UniProtKB/Swiss-Prot : 72 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...

Diseases related to Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuropathy 9.6 PNPLA7 MCM3AP

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 obesity 31 very rare (1%) HP:0001513
3 ophthalmoplegia 31 very rare (1%) HP:0000602
4 distal sensory impairment 31 very rare (1%) HP:0002936
5 scoliosis 31 HP:0002650
6 delayed speech and language development 31 HP:0000750
7 strabismus 31 HP:0000486
8 premature ovarian insufficiency 31 HP:0008209
9 high, narrow palate 31 HP:0002705
10 motor delay 31 HP:0001270
11 areflexia 31 HP:0001284
12 hyporeflexia 31 HP:0001265
13 generalized hypotonia 31 HP:0001290
14 unsteady gait 31 HP:0002317
15 peripheral axonal neuropathy 31 HP:0003477
16 foot dorsiflexor weakness 31 HP:0009027
17 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Skeletal Feet:
foot deformities
foot drop

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
Head And Neck Mouth:
high arched palate

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 (Updated 05-Apr-2021)

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...

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

# Genetic test Affiliating Genes
1 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 29 MCM3AP

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:

40
Eye

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

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

# Title Authors PMID Year
1
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. 57 6
29982295 2018
2
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. 57 6
28969388 2017
3
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. 57 6
28633435 2017
4
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 57
24123876 2013

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 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCM3AP NM_003906.5(MCM3AP):c.2743G>A (p.Glu915Lys) SNV Pathogenic 92123 rs483352869 GRCh37: 21:47686942-47686942
GRCh38: 21:46267028-46267028
2 MCM3AP NM_003906.5(MCM3AP):c.443del (p.Pro148fs) Deletion Pathogenic 562049 rs1569086477 GRCh37: 21:47704758-47704758
GRCh38: 21:46284844-46284844
3 MCM3AP NM_003906.5(MCM3AP):c.2667C>A (p.Tyr889Ter) SNV Pathogenic 562050 rs1569073058 GRCh37: 21:47687018-47687018
GRCh38: 21:46267104-46267104
4 MCM3AP NM_003906.5(MCM3AP):c.2600C>A (p.Ala867Asp) SNV Pathogenic 562051 rs1569074992 GRCh37: 21:47690343-47690343
GRCh38: 21:46270429-46270429
5 MCM3AP NM_003906.5(MCM3AP):c.2633G>A (p.Arg878His) SNV Pathogenic 562052 rs373674344 GRCh37: 21:47687052-47687052
GRCh38: 21:46267138-46267138
6 MCM3AP NM_003906.5(MCM3AP):c.2851T>C (p.Ser951Pro) SNV Pathogenic 562053 rs1569072024 GRCh37: 21:47686019-47686019
GRCh38: 21:46266105-46266105
7 MCM3AP NM_003906.5(MCM3AP):c.2609T>C (p.Leu870Ser) SNV Pathogenic 562054 rs1569074977 GRCh37: 21:47690334-47690334
GRCh38: 21:46270420-46270420
8 MCM3AP NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) SNV Likely pathogenic 562048 rs779248881 GRCh37: 21:47676821-47676821
GRCh38: 21:46256907-46256907
9 PNPLA7 NM_001098537.3(PNPLA7):c.3443G>A (p.Gly1148Glu) SNV Uncertain significance 986394 GRCh37: 9:140357186-140357186
GRCh38: 9:137462734-137462734
10 MCM3AP-AS1 , MCM3AP NM_003906.5(MCM3AP):c.5423del (p.Gly1808fs) Deletion Uncertain significance 986396 GRCh37: 21:47662719-47662719
GRCh38: 21:46242805-46242805
11 MCM3AP NM_003906.5(MCM3AP):c.2632C>T (p.Arg878Cys) SNV Uncertain significance 1028171 GRCh37: 21:47687053-47687053
GRCh38: 21:46267139-46267139
12 MCM3AP NM_003906.5(MCM3AP):c.3302C>T (p.Ser1101Phe) SNV Uncertain significance 1028172 GRCh37: 21:47684064-47684064
GRCh38: 21:46264150-46264150
13 MCM3AP-AS1 , MCM3AP NM_003906.5(MCM3AP):c.5222G>T (p.Trp1741Leu) SNV Uncertain significance 1028173 GRCh37: 21:47663453-47663453
GRCh38: 21:46243539-46243539

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
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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