MCID: ICH043
MIFTS: 22

Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Metabolic diseases, Rare diseases, Mental 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 75 29 13 6 40 73
Isqmr 57 75
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

UniProtKB/Swiss-Prot : 75 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 inguinal hernia

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation, profound
hypertonicity
spastic quadriplegia
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

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

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

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 GRCh37 Chromosome 6, 80634751: 80634751
6 ELOVL4 NM_022726.3(ELOVL4): c.289-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 79925034: 79925034

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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