ISQMR
MCID: ICH043
MIFTS: 24

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 57 74 29 13 6 40 72
Isqmr 57 74
Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome 59
Congenital Ichthyosis-Intellectual Disability-Spastic Tetraplegia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ichthyosis, spastic quadriplegia, and mental retardation:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 614457
ICD10 via Orphanet 34 Q80.8
Orphanet 59 ORPHA352333
MedGen 42 C3280856
UMLS 72 C3280856

Summaries for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

UniProtKB/Swiss-Prot : 74 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 : 57 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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 occasional (7.5%) HP:0012444
2 microcephaly 32 occasional (7.5%) HP:0000252
3 abnormality of visual evoked potentials 32 occasional (7.5%) HP:0000649
4 generalized myoclonic seizures 32 occasional (7.5%) HP:0002123
5 asthma 32 occasional (7.5%) HP:0002099
6 delayed myelination 32 occasional (7.5%) HP:0012448
7 high myopia 32 occasional (7.5%) HP:0011003
8 inguinal hernia 32 HP:0000023
9 global developmental delay 32 HP:0001263
10 ichthyosis 32 HP:0008064
11 flexion contracture 32 HP:0001371
12 spastic tetraplegia 32 HP:0002510
13 hyperkeratosis 32 HP:0000962
14 scaling skin 32 HP:0040189
15 dry skin 32 HP:0000958
16 erythema 32 HP:0010783
17 growth delay 32 HP:0001510
18 intellectual disability, profound 32 HP:0002187

Symptoms via clinical synopsis from OMIM:

57
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 29 ELOVL4

Anatomical Context for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

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

41
Skin, Brain

Publications for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Articles related to Ichthyosis, Spastic Quadriplegia, and Mental Retardation:

# Title Authors PMID Year
1
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. 8 71
22100072 2011
2
Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death. 8
17208947 2007
3
[Anesthesia for an Eleven Year Old Girl with Sjögren-Larsson Syndrome]. 38
30380284 2017

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 GRCh37 Pos GRCh38 Pos
1 ELOVL4 NM_022726.4(ELOVL4): c.670-1G> A single nucleotide variant Pathogenic 6:80626601-80626601 6:79916884-79916884
2 ELOVL4 NM_022726.4(ELOVL4): c.690del (p.Ile230fs) deletion Pathogenic rs1131690772 6:80626580-80626580 6:79916863-79916863
3 ELOVL4 NM_022726.4(ELOVL4): c.289-2A> G single nucleotide variant Likely pathogenic rs1554162524 6:80634751-80634751 6:79925034-79925034
4 ELOVL4 NM_022726.4(ELOVL4): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs387906916 6:80629160-80629160 6:79919443-79919443
5 ELOVL4 NM_022726.4(ELOVL4): c.215del (p.Pro72fs) deletion Conflicting interpretations of pathogenicity 6:80635983-80635984 6:79926267-79926267
6 ELOVL4 NM_022726.4(ELOVL4): c.351T> A (p.Asn117Lys) single nucleotide variant Uncertain significance rs148018494 6:80634687-80634687 6:79924970-79924970

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....