IDDSAPN
MCID: INT391
MIFTS: 19

Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy (IDDSAPN)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Speech Delay and Axonal...

MalaCards integrated aliases for Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy:

Name: Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 57 6
Iddsapn 57

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
progressive disorder
onset in the first years of life
episodic decline after injury or stress


HPO:

31
intellectual developmental disorder with speech delay and axonal peripheral neuropathy:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset


Classifications:



Summaries for Intellectual Developmental Disorder with Speech Delay and Axonal...

OMIM® : 57 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems (summary by Martin et al., 2020 and Ahmed et al., 2021) (619099) (Updated 05-Apr-2021)

MalaCards based summary : Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy, is also known as iddsapn. An important gene associated with Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy is NEMF (Nuclear Export Mediator Factor). Affiliated tissues include eye, and related phenotypes are intellectual disability and ataxia

Related Diseases for Intellectual Developmental Disorder with Speech Delay and Axonal...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Speech Delay and Axonal...

Human phenotypes related to Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy:

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 ataxia 31 very rare (1%) HP:0001251
3 tremor 31 very rare (1%) HP:0001337
4 global developmental delay 31 very rare (1%) HP:0001263
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 kyphoscoliosis 31 very rare (1%) HP:0002751
7 respiratory distress 31 very rare (1%) HP:0002098
8 generalized hypotonia 31 very rare (1%) HP:0001290
9 distal amyotrophy 31 very rare (1%) HP:0003693
10 peripheral axonal neuropathy 31 very rare (1%) HP:0003477

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Head And Neck Eyes:
strabismus
impaired smooth pursuit
abnormal eye movements
abnormal saccades

Neurologic Peripheral Nervous System:
hyporeflexia
foot drop
sensorineural axonal peripheral neuropathy

Neurologic Behavioral Psychiatric Manifestations:
autistic features
adhd

Neurologic Central Nervous System:
ataxia
dysarthria
unsteady gait
cerebellar atrophy (1 family)
speech delay, severe
more
Skeletal Feet:
talipes
foot deformities
hammertoes
pes equinovarus
high arches
more
Muscle Soft Tissue:
distal muscle weakness
distal muscle atrophy
neurogenic process seen on emg

Skeletal Hands:
claw hands

Clinical features from OMIM®:

619099 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Speech Delay and Axonal...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy

Genetic Tests for Intellectual Developmental Disorder with Speech Delay and Axonal...

Anatomical Context for Intellectual Developmental Disorder with Speech Delay and Axonal...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy:

40
Eye

Publications for Intellectual Developmental Disorder with Speech Delay and Axonal...

Articles related to Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy:

(showing 3, show less)
# Title Authors PMID Year
1
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy. 57 6
33048237 2021
2
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. 6 57
32934225 2020
3
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 6 57
27431290 2017

Variations for Intellectual Developmental Disorder with Speech Delay and Axonal...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy:

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEMF NM_004713.6(NEMF):c.2608C>T (p.Arg870Ter) SNV Pathogenic 986400 GRCh37: 14:50262520-50262520
GRCh38: 14:49795802-49795802
2 NEMF NM_004713.6(NEMF):c.2014A>T (p.Lys672Ter) SNV Pathogenic 986401 GRCh37: 14:50269252-50269252
GRCh38: 14:49802534-49802534
3 NEMF NM_004713.6(NEMF):c.2871_2875dup (p.Asp959delinsValTer) Duplication Pathogenic 986402 GRCh37: 14:50255883-50255884
GRCh38: 14:49789165-49789166
4 NEMF NM_004713.6(NEMF):c.2618del (p.Lys873fs) Deletion Pathogenic 986403 GRCh37: 14:50262510-50262510
GRCh38: 14:49795792-49795792
5 NEMF NM_004713.6(NEMF):c.807-2A>C SNV Pathogenic 931494 GRCh37: 14:50298846-50298846
GRCh38: 14:49832128-49832128
6 NEMF NM_004713.6(NEMF):c.1234_1235insC (p.Asn412fs) Insertion Pathogenic 986405 GRCh37: 14:50295523-50295524
GRCh38: 14:49828805-49828806
7 NEMF NM_004713.6(NEMF):c.1235_1236insC (p.Pro413fs) Insertion Pathogenic 992634 GRCh37: 14:50295522-50295523
GRCh38: 14:49828804-49828805
8 NEMF NM_004713.6(NEMF):c.574+1G>T SNV Likely pathogenic 993000 GRCh37: 14:50304856-50304856
GRCh38: 14:49838138-49838138

Expression for Intellectual Developmental Disorder with Speech Delay and Axonal...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy.

Pathways for Intellectual Developmental Disorder with Speech Delay and Axonal...

GO Terms for Intellectual Developmental Disorder with Speech Delay and Axonal...

Sources for Intellectual Developmental Disorder with Speech Delay and Axonal...

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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