ISQMR
MCID: ICH043
MIFTS: 22

Ichthyosis, Spastic Quadriplegia, and Mental Retardation (ISQMR)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

MalaCards integrated aliases for Ichthyosis, Spastic Quadriplegia, and Mental Retardation:

Name: Ichthyosis, Spastic Quadriplegia, and Mental Retardation 58 76 30 13 6 41 74
Isqmr 58 76
Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome 60
Congenital Ichthyosis-Intellectual Disability-Spastic Tetraplegia Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two unrelated patients have been reported (as of january 2012)


HPO:

33
ichthyosis, spastic quadriplegia, and mental retardation:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

UniProtKB/Swiss-Prot : 76 Ichthyosis, spastic quadriplegia, and mental retardation: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.

MalaCards based summary : Ichthyosis, Spastic Quadriplegia, and Mental Retardation, is also known as isqmr, and has symptoms including seizures, dry skin and scaly skin. An important gene associated with Ichthyosis, Spastic Quadriplegia, and Mental Retardation is ELOVL4 (ELOVL Fatty Acid Elongase 4). Affiliated tissues include skin and brain, and related phenotypes are brain atrophy and microcephaly

OMIM : 58 ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011). (614457)

Related Diseases for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Symptoms & Phenotypes for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Human phenotypes related to Ichthyosis, Spastic Quadriplegia, and Mental Retardation:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 33 occasional (7.5%) HP:0012444
2 microcephaly 33 occasional (7.5%) HP:0000252
3 abnormality of visual evoked potentials 33 occasional (7.5%) HP:0000649
4 generalized myoclonic seizures 33 occasional (7.5%) HP:0002123
5 asthma 33 occasional (7.5%) HP:0002099
6 delayed myelination 33 occasional (7.5%) HP:0012448
7 high myopia 33 occasional (7.5%) HP:0011003
8 inguinal hernia 33 HP:0000023
9 global developmental delay 33 HP:0001263
10 ichthyosis 33 HP:0008064
11 flexion contracture 33 HP:0001371
12 spastic tetraplegia 33 HP:0002510
13 hyperkeratosis 33 HP:0000962
14 scaling skin 33 HP:0040189
15 dry skin 33 HP:0000958
16 growth delay 33 HP:0001510
17 erythema 33 HP:0010783
18 intellectual disability, profound 33 HP:0002187

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
hypertonicity
spastic quadriplegia
mental retardation, profound
lack of psychomotor development
more
Skin Nails Hair Skin:
ichthyosis
hyperkeratosis
dry skin
erythema
scaly skin
more
Growth Other:
poor growth

Head And Neck Eyes:
abnormal visual evoked potentials (1 patient)
high myopia (1 patient)

Genitourinary External Genitalia Male:
small testicles (1 patient)

Abdomen External Features:
inguinal hernia

Skeletal:
contractures

Head And Neck Head:
small head
microcephaly (1 patient)

Respiratory:
asthma (1 patient)

Clinical features from OMIM:

614457

UMLS symptoms related to Ichthyosis, Spastic Quadriplegia, and Mental Retardation:


seizures, dry skin, scaly skin

Drugs & Therapeutics for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Genetic Tests for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Genetic tests related to Ichthyosis, Spastic Quadriplegia, and Mental Retardation:

# Genetic test Affiliating Genes
1 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 30 ELOVL4

Anatomical Context for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

MalaCards organs/tissues related to Ichthyosis, Spastic Quadriplegia, and Mental Retardation:

42
Skin, Brain

Publications for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Variations for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

ClinVar genetic disease variations for Ichthyosis, Spastic Quadriplegia, and Mental Retardation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELOVL4 NM_022726.3(ELOVL4): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs387906916 GRCh37 Chromosome 6, 80629160: 80629160
2 ELOVL4 NM_022726.3(ELOVL4): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs387906916 GRCh38 Chromosome 6, 79919443: 79919443
3 ELOVL4 NM_022726.3(ELOVL4): c.690delT (p.Ile230Metfs) deletion Pathogenic rs1131690772 GRCh38 Chromosome 6, 79916863: 79916863
4 ELOVL4 NM_022726.3(ELOVL4): c.690delT (p.Ile230Metfs) deletion Pathogenic rs1131690772 GRCh37 Chromosome 6, 80626580: 80626580
5 ELOVL4 NM_022726.3(ELOVL4): c.289-2A> G single nucleotide variant Likely pathogenic rs1554162524 GRCh37 Chromosome 6, 80634751: 80634751
6 ELOVL4 NM_022726.3(ELOVL4): c.289-2A> G single nucleotide variant Likely pathogenic rs1554162524 GRCh38 Chromosome 6, 79925034: 79925034
7 ELOVL4 NM_022726.3(ELOVL4): c.670-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 80626601: 80626601
8 ELOVL4 NM_022726.3(ELOVL4): c.670-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 79916884: 79916884
9 ELOVL4 NM_022726.3(ELOVL4): c.215delC (p.Pro72Leufs) deletion Pathogenic GRCh37 Chromosome 6, 80635983: 80635984
10 ELOVL4 NM_022726.3(ELOVL4): c.215delC (p.Pro72Leufs) deletion Pathogenic GRCh38 Chromosome 6, 79926267: 79926267

Expression for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Search GEO for disease gene expression data for Ichthyosis, Spastic Quadriplegia, and Mental Retardation.

Pathways for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

GO Terms for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Sources for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

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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