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MCID: ICH016
MIFTS: 19

Ichthyosis Lamellar 3

Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Ichthyosis Lamellar 3

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MalaCards integrated aliases for Ichthyosis Lamellar 3:

Name: Ichthyosis Lamellar 3 20
Lamellar Ichthyosis, Type 3 20 6
Ichthyosis Congenita Iii 20
Ichthyosis, Lamellar, 3 71

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C1858142
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Summaries for Ichthyosis Lamellar 3

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MalaCards based summary : Ichthyosis Lamellar 3, also known as lamellar ichthyosis, type 3, is related to ichthyosis, congenital, autosomal recessive 5 and autosomal recessive congenital ichthyosis. An important gene associated with Ichthyosis Lamellar 3 is CYP4F22 (Cytochrome P450 Family 4 Subfamily F Member 22). Affiliated tissues include Epidermis.

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Related Diseases for Ichthyosis Lamellar 3

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Diseases in the Ichthyosis, Lamellar, Autosomal Dominant family:

Ichthyosis Lamellar 1 Ichthyosis Lamellar 3

Diseases related to Ichthyosis Lamellar 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 5 11.5
2 autosomal recessive congenital ichthyosis 10.2
3 ichthyosis 10.2
4 ichthyosis, congenital, autosomal recessive 2 10.1
5 ichthyosis, congenital, autosomal recessive 1 10.1
6 sjogren-larsson syndrome 10.1
7 ichthyosis, congenital, autosomal recessive 4a 10.1
8 ichthyosis, congenital, autosomal recessive 11 10.1
9 ichthyosis, congenital, autosomal recessive 3 10.1
10 ichthyosis, congenital, autosomal recessive 6 10.1
11 ichthyosis, congenital, autosomal recessive 8 10.1
12 ichthyosis, congenital, autosomal recessive 7 10.1
13 ichthyosis, congenital, autosomal recessive 9 10.1
14 ichthyosis, congenital, autosomal recessive 10 10.1
15 parotitis 10.1
16 paraplegia 10.1
17 diabetes mellitus 10.1
18 back pain 10.1

Graphical network of the top 20 diseases related to Ichthyosis Lamellar 3:



Diseases related to Ichthyosis Lamellar 3
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Symptoms & Phenotypes for Ichthyosis Lamellar 3

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Drugs & Therapeutics for Ichthyosis Lamellar 3

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Search Clinical Trials , NIH Clinical Center for Ichthyosis Lamellar 3

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Genetic Tests for Ichthyosis Lamellar 3

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Anatomical Context for Ichthyosis Lamellar 3

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LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ichthyosis Lamellar 3:
# Tissue Anatomical CompartmentCell Relevance
1 Epidermis Stratified Epidermis Corneocytes Affected by disease
2 Epidermis Stratified Epidermis Granular Keratinocytes Affected by disease
3 Epidermis Stratified Epidermis Spinous Keratinocytes Affected by disease
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Publications for Ichthyosis Lamellar 3

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Articles related to Ichthyosis Lamellar 3:

# Title Authors PMID Year
1
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 6 61
16436457 2006
2
Rapid detection of homozygous mutations in congenital recessive ichthyosis. 6
18034255 2008
3
Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus. 61
30166818 2018
4
Kava dermopathy in Fiji: an acquired ichthyosis? 61
25069767 2014
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Variations for Ichthyosis Lamellar 3

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ClinVar genetic disease variations for Ichthyosis Lamellar 3:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP4F22 NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) SNV Pathogenic 909 rs118203935 19:15659981-15659981 19:15549170-15549170
2 CYP4F22 NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) SNV Pathogenic 910 rs118203936 19:15659984-15659984 19:15549173-15549173
3 CYP4F22 NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) SNV Pathogenic 911 rs118203937 19:15651317-15651317 19:15540506-15540506
4 CYP4F22 CYP4F22, EX3-12DEL Deletion Pathogenic 912
5 CYP4F22 CYP4F22, TRP521TER SNV Pathogenic 39560
6 CYP4F22 NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp) SNV Pathogenic 560306 rs369811073 19:15640539-15640539 19:15529728-15529728
7 CYP4F22 NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) Indel Pathogenic 560307 rs1568360348 19:15648417-15648423 19:15537606-15537612
8 CYP4F22 NM_173483.4(CYP4F22):c.550-2A>T SNV Pathogenic 560308 rs1568360475 19:15648681-15648681 19:15537870-15537870
9 CYP4F22 NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr) SNV Pathogenic 560309 rs1568360526 19:15648725-15648725 19:15537914-15537914
10 CYP4F22 NM_173483.4(CYP4F22):c.641_642GT[1] (p.Val215fs) Microsatellite Pathogenic 560310 rs1568360554 19:15648773-15648774 19:15537962-15537963
11 CYP4F22 NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp) SNV Pathogenic 560311 rs755885838 19:15651436-15651436 19:15540625-15540625
12 CYP4F22 NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) SNV Pathogenic 560312 rs370734976 19:15651506-15651506 19:15540695-15540695
13 CYP4F22 NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys) SNV Pathogenic 560313 rs200581968 19:15661500-15661500 19:15550689-15550689
14 CYP4F22 NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu) SNV Pathogenic 560314 rs1568365205 19:15662174-15662174 19:15551363-15551363
15 CYP4F22 NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly) SNV Pathogenic 560315 rs1167473603 19:15662218-15662218 19:15551407-15551407
16 CYP4F22 NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) SNV Pathogenic 432683 rs749972738 19:15640611-15640611 19:15529800-15529800
17 CYP4F22 NM_173483.4(CYP4F22):c.716_719TGTC[1] (p.Val241fs) Microsatellite Pathogenic 560316 rs751937099 19:15651303-15651306 19:15540492-15540495
18 CYP4F22 NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro) SNV Pathogenic 560317 rs144961059 19:15661501-15661501 19:15550690-15550690
19 CYP4F22 NM_173483.4(CYP4F22):c.940-1G>A SNV Pathogenic 560318 rs1568362605 19:15654781-15654781 19:15543970-15543970
20 CYP4F22 NM_173483.4(CYP4F22):c.421+1G>A SNV Pathogenic 560319 rs773886415 19:15648226-15648226 19:15537415-15537415
21 CYP4F22 NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) SNV Pathogenic 425166 rs760727576 19:15655018-15655018 19:15544207-15544207
22 CYP4F22 NM_173483.4(CYP4F22):c.467G>A (p.Arg156His) SNV Pathogenic 560320 rs776275777 19:15648391-15648391 19:15537580-15537580
23 CYP4F22 NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu) SNV Pathogenic 560321 rs1568361250 19:15651286-15651286 19:15540475-15540475
24 CYP4F22 NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys) SNV Pathogenic 560322 rs1568364117 19:15658945-15658945 19:15548134-15548134
25 CYP4F22 NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) SNV Pathogenic 560323 rs1159994392 19:15651501-15651501 19:15540690-15540690
26 CYP4F22 NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr) SNV Pathogenic 444456 rs1403531884 19:15662110-15662110 19:15551299-15551299
27 CYP4F22 NM_173483.4(CYP4F22):c.1137-18_1137-4del Deletion Pathogenic 560324 rs1568364101 19:15658901-15658915 19:15548090-15548104
28 CYP4F22 NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly) SNV Pathogenic 560325 rs745368359 19:15655038-15655038 19:15544227-15544227
29 CYP4F22 NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter) SNV Pathogenic 420584 rs762667660 19:15654818-15654818 19:15544007-15544007
30 CYP4F22 NM_173483.4(CYP4F22):c.981del (p.Glu328fs) Deletion Pathogenic 560327 rs1568362644 19:15654822-15654822 19:15544011-15544011
31 CYP4F22 NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) SNV Pathogenic 560328 rs201129618 19:15655068-15655068 19:15544257-15544257
32 CYP4F22 NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) Duplication Pathogenic 279799 rs531800013 19:15636205-15636206 19:15525394-15525395
33 CYP4F22 NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys) SNV Pathogenic 560330 rs768098854 19:15651316-15651316 19:15540505-15540505
34 CYP4F22 NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) SNV Pathogenic 560331 rs770500550 19:15648390-15648390 19:15537579-15537579
35 CYP4F22 NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) SNV Pathogenic 560332 rs1360295659 19:15662249-15662249 19:15551438-15551438
36 CYP4F22 NM_173483.4(CYP4F22):c.429dup (p.Leu144fs) Duplication Pathogenic 560333 rs1382435790 19:15648350-15648351 19:15537539-15537540
37 CYP4F22 NM_173483.4(CYP4F22):c.367+1G>A SNV Pathogenic 560336 rs1568357749 19:15640665-15640665 19:15529854-15529854
38 CYP4F22 NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) SNV Pathogenic 560337 rs769229606 19:15655039-15655039 19:15544228-15544228
39 CYP4F22 NM_173483.4(CYP4F22):c.549+5G>C SNV Pathogenic 560338 rs1568360387 19:15648478-15648478 19:15537667-15537667
40 CYP4F22 NM_173483.3(CYP4F22):c.1138del (p.Asp380Thrfs) Deletion Pathogenic 560339 rs1568364107 19:15658918-15658918 19:15548107-15548107
41 CYP4F22 NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter) SNV Pathogenic 379536 rs745368359 19:15655038-15655038 19:15544227-15544227
42 CYP4F22 NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly) SNV Likely pathogenic 633806 rs1449980834 19:15640533-15640533 19:15529722-15529722
43 CYP4F22 NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys) SNV Likely pathogenic 633807 rs745942843 19:15659001-15659001 19:15548190-15548190
44 CYP4F22 NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) SNV Likely pathogenic 982393 rs770500550 19:15648390-15648390 19:15537579-15537579
45 CYP4F22 NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) SNV Likely pathogenic 560326 rs118091316 19:15636324-15636324 19:15525513-15525513
46 CYP4F22 NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) SNV Conflicting interpretations of pathogenicity 560335 rs572278771 19:15651301-15651301 19:15540490-15540490
47 CYP4F22 NM_173483.4(CYP4F22):c.873C>T (p.Ala291=) SNV Uncertain significance 328439 rs747568295 19:15651462-15651462 19:15540651-15540651
48 CYP4F22 NM_173483.4(CYP4F22):c.1137-15C>G SNV Uncertain significance 328445 rs200280289 19:15658904-15658904 19:15548093-15548093
49 CYP4F22 NM_173483.4(CYP4F22):c.*650C>T SNV Uncertain significance 328459 rs546418524 19:15662932-15662932 19:15552121-15552121
50 CYP4F22 NM_173483.4(CYP4F22):c.1551G>T (p.Glu517Asp) SNV Uncertain significance 328448 rs777194622 19:15662237-15662237 19:15551426-15551426
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Expression for Ichthyosis Lamellar 3

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Search GEO for disease gene expression data for Ichthyosis Lamellar 3.
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Pathways for Ichthyosis Lamellar 3

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GO Terms for Ichthyosis Lamellar 3

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Sources for Ichthyosis Lamellar 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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