Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases Nephrological diseases Skin diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

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

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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

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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

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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

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

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

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

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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

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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	Passwell JH...Cohen BE	1149323	1975

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

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

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

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

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

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

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