MCID: ICH016
MIFTS: 19

Ichthyosis Lamellar 3

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Lamellar 3

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:



External Ids:

UMLS 71 C1858142

Summaries for Ichthyosis Lamellar 3

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.

Related Diseases for Ichthyosis Lamellar 3

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



Diseases related to Ichthyosis Lamellar 3

Symptoms & Phenotypes for Ichthyosis Lamellar 3

Drugs & Therapeutics for Ichthyosis Lamellar 3

Search Clinical Trials , NIH Clinical Center for Ichthyosis Lamellar 3

Genetic Tests for Ichthyosis Lamellar 3

Anatomical Context for Ichthyosis Lamellar 3

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

Publications for Ichthyosis Lamellar 3

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

Variations for Ichthyosis Lamellar 3

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

Expression for Ichthyosis Lamellar 3

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

Pathways for Ichthyosis Lamellar 3

GO Terms for Ichthyosis Lamellar 3

Sources for Ichthyosis Lamellar 3

3 CDC
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11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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30 HMDB
31 HPO
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45 MESH via Orphanet
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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
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