ISQMR
MCID: ICH043
MIFTS: 25

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 56 73 29 13 6 39 71
Isqmr 56 73
Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome 58
Congenital Ichthyosis-Intellectual Disability-Spastic Tetraplegia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
ichthyosis, spastic quadriplegia, and mental retardation:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

UniProtKB/Swiss-Prot : 73 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 : 56 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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 31 occasional (7.5%) HP:0012444
2 microcephaly 31 occasional (7.5%) HP:0000252
3 abnormality of visual evoked potentials 31 occasional (7.5%) HP:0000649
4 generalized myoclonic seizures 31 occasional (7.5%) HP:0002123
5 asthma 31 occasional (7.5%) HP:0002099
6 delayed myelination 31 occasional (7.5%) HP:0012448
7 high myopia 31 occasional (7.5%) HP:0011003
8 inguinal hernia 31 HP:0000023
9 global developmental delay 31 HP:0001263
10 ichthyosis 31 HP:0008064
11 flexion contracture 31 HP:0001371
12 spastic tetraplegia 31 HP:0002510
13 hyperkeratosis 31 HP:0000962
14 scaling skin 31 HP:0040189
15 dry skin 31 HP:0000958
16 erythema 31 HP:0010783
17 growth delay 31 HP:0001510
18 intellectual disability, profound 31 HP:0002187

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 6 56
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. 56
17208947 2007
3
[Anesthesia for an Eleven Year Old Girl with Sjögren-Larsson Syndrome]. 61
30380284 2017

Variations for Ichthyosis, Spastic Quadriplegia, and Mental Retardation

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ELOVL4 NM_022726.4(ELOVL4):c.690del (p.Ile230fs)deletion Pathogenic 30495 rs1131690772 6:80626580-80626580 6:79916863-79916863
2 ELOVL4 NM_022726.4(ELOVL4):c.670-1G>ASNV Pathogenic 561003 rs1561982219 6:80626601-80626601 6:79916884-79916884
3 ELOVL4 NM_022726.4(ELOVL4):c.289-2A>GSNV Likely pathogenic 433192 rs1554162524 6:80634751-80634751 6:79925034-79925034
4 ELOVL4 NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter)SNV Likely pathogenic 30494 rs387906916 6:80629160-80629160 6:79919443-79919443
5 ELOVL4 NM_022726.4(ELOVL4):c.215del (p.Pro72fs)deletion Conflicting interpretations of pathogenicity 561002 rs746047636 6:80635983-80635984 6:79926267-79926267
6 ELOVL4 NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)SNV Uncertain significance 358148 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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