MCID: ICH068
MIFTS: 18

Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Categories: Eye diseases, Fetal diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

MalaCards integrated aliases for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment:

Name: Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 56
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome 58
Ichthyosis, Mental Retardation, Dwarfism and Renal Impairment 52
Ichthyosis Intellectual Deficit Dwarfism Renal Impairment 52
Passwell-Goodman-Siprkowski Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ichthyosis, mental retardation, dwarfism, and renal impairment:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 242530
MESH via Orphanet 44 C536274
UMLS via Orphanet 72 C1855787
Orphanet 58 ORPHA2278
MedGen 41 C1855787

Summaries for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2278 Definition Ichthyosis-intellectual disability -dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment, also known as ichthyosis-intellectual disability-dwarfism-renal impairment syndrome, is related to ichthyosis and dwarfism. Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and failure to thrive

More information from OMIM: 242530

Related Diseases for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Diseases related to Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis 10.2
2 dwarfism 10.2

Symptoms & Phenotypes for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Human phenotypes related to Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
4 congenital nonbullous ichthyosiform erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007479
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
7 abnormal fingernail morphology 31 frequent (33%) HP:0001231
8 aminoaciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003355
9 premature ovarian insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008209
10 nephropathy 31 HP:0000112
11 abnormality of the fingernails 58 Frequent (79-30%)
12 elevated serum creatinine 31 HP:0003259
13 decreased glomerular filtration rate 31 HP:0012213

Symptoms via clinical synopsis from OMIM:

56
G U:
nephropathy

Growth:
dwarfism

Skin:
congenital non-bullous ichthyosis

Neuro:
mental retardation

Lab:
reduced creatinine clearance
elevated bun
elevated creatinine

Clinical features from OMIM:

242530

Drugs & Therapeutics for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Genetic Tests for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Anatomical Context for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

MalaCards organs/tissues related to Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment:

40
Eye, Skin

Publications for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Articles related to Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment:

# Title Authors PMID Year
1
Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome. 56 61
1149323 1975

Variations for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Expression for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Search GEO for disease gene expression data for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment.

Pathways for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

GO Terms for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

Sources for Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment

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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