MCID: ANG035
MIFTS: 19

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Aliases & Classifications for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

MalaCards integrated aliases for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas:

Name: Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 57 29 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early adulthood
no systemic symptoms


HPO:

31
angiokeratoma corporis diffusum with arteriovenous fistulas:
Inheritance autosomal dominant inheritance


Summaries for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

MalaCards based summary : Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas is related to angiokeratoma and cavernous malformation. An important gene associated with Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas is KRIT1 (KRIT1 Ankyrin Repeat Containing). Related phenotypes are hyperhidrosis and hemihypertrophy

More information from OMIM: 600419

Related Diseases for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Diseases related to Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 angiokeratoma 9.2 LOC113748416 KRIT1 ANKIB1
2 cavernous malformation 9.1 LOC113748416 KRIT1 ANKIB1

Symptoms & Phenotypes for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Human phenotypes related to Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas:

31
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 HP:0000975
2 hemihypertrophy 31 HP:0001528
3 angiokeratoma corporis diffusum 31 HP:0001071
4 arteriovenous fistula 31 HP:0004947

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
angiokeratoma corporis diffusum

Skeletal Limbs:
asymmetric hypertrophy and hyperhidrosis of a leg

Cardiovascular Vascular:
arteriovenous fistulas

Clinical features from OMIM®:

600419 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 ANKIB1 KRIT1

Drugs & Therapeutics for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Search Clinical Trials , NIH Clinical Center for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Genetic Tests for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Genetic tests related to Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas:

# Genetic test Affiliating Genes
1 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 29

Anatomical Context for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Publications for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Articles related to Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas:

# Title Authors PMID Year
1
Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 57
7826098 1995

Variations for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

ClinVar genetic disease variations for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRIT1 NM_194456.1(KRIT1):c.-394C>T SNV Uncertain significance 360897 rs886062493 GRCh37: 7:91874459-91874459
GRCh38: 7:92245145-92245145
2 KRIT1 NM_194456.1(KRIT1):c.*451T>C SNV Uncertain significance 360870 rs886062486 GRCh37: 7:91829599-91829599
GRCh38: 7:92200285-92200285
3 KRIT1 NM_194456.1(KRIT1):c.*436C>T SNV Uncertain significance 360871 rs886062487 GRCh37: 7:91829614-91829614
GRCh38: 7:92200300-92200300
4 KRIT1 NM_194456.1(KRIT1):c.*1655T>G SNV Uncertain significance 360863 rs886062484 GRCh37: 7:91828395-91828395
GRCh38: 7:92199081-92199081
5 KRIT1 NM_194456.1(KRIT1):c.*371_*372insG Insertion Uncertain significance 360873 rs886062488 GRCh37: 7:91829678-91829679
GRCh38: 7:92200364-92200365
6 KRIT1 , ANKIB1 NM_019004.2(ANKIB1):c.-516_-511CCGGAG[4] Microsatellite Uncertain significance 360909 rs886062498 GRCh37: 7:91875404-91875405
GRCh38: 7:92246090-92246091
7 KRIT1 , LOC113748416 NM_194456.1(KRIT1):c.-591C>T SNV Uncertain significance 360903 rs886062497 GRCh37: 7:91875221-91875221
GRCh38: 7:92245907-92245907
8 KRIT1 NM_194456.1(KRIT1):c.-174C>A SNV Uncertain significance 360893 rs886062491 GRCh37: 7:91874239-91874239
GRCh38: 7:92244925-92244925
9 KRIT1 , LOC113748416 NM_194456.1(KRIT1):c.-590+8C>T SNV Uncertain significance 360902 rs886062496 GRCh37: 7:91875212-91875212
GRCh38: 7:92245898-92245898
10 KRIT1 NM_194456.1(KRIT1):c.-544C>G SNV Uncertain significance 360899 rs886062495 GRCh37: 7:91874864-91874864
GRCh38: 7:92245550-92245550
11 KRIT1 NM_194456.1(KRIT1):c.*578A>G SNV Uncertain significance 360869 rs886062485 GRCh37: 7:91829472-91829472
GRCh38: 7:92200158-92200158
12 KRIT1 NM_194456.1(KRIT1):c.-441C>G SNV Uncertain significance 360898 rs886062494 GRCh37: 7:91874761-91874761
GRCh38: 7:92245447-92245447
13 KRIT1 NM_194456.1(KRIT1):c.-307A>T SNV Uncertain significance 360894 rs886062492 GRCh37: 7:91874372-91874372
GRCh38: 7:92245058-92245058
14 KRIT1 NM_004912.4(KRIT1):c.2074_2079GATACT[1] (p.692_693DT[1]) Microsatellite Uncertain significance 360882 rs764839013 GRCh37: 7:91830678-91830683
GRCh38: 7:92201364-92201369
15 KRIT1 NM_194456.1(KRIT1):c.*62A>C SNV Uncertain significance 360880 rs886062490 GRCh37: 7:91829988-91829988
GRCh38: 7:92200674-92200674
16 KRIT1 NM_194456.1(KRIT1):c.-589-5G>T SNV Uncertain significance 360900 rs570721041 GRCh37: 7:91874914-91874914
GRCh38: 7:92245600-92245600
17 KRIT1 NM_194456.1(KRIT1):c.*361C>G SNV Uncertain significance 360874 rs886062489 GRCh37: 7:91829689-91829689
GRCh38: 7:92200375-92200375
18 KRIT1 , LOC113748416 NM_194456.1(KRIT1):c.-628T>A SNV Uncertain significance 360904 rs745344627 GRCh37: 7:91875258-91875258
GRCh38: 7:92245944-92245944
19 KRIT1 NM_194456.1(KRIT1):c.*1457T>C SNV Uncertain significance 908213 GRCh37: 7:91828593-91828593
GRCh38: 7:92199279-92199279
20 KRIT1 NM_194454.3(KRIT1):c.*331G>A SNV Uncertain significance 908282 GRCh37: 7:91829719-91829719
GRCh38: 7:92200405-92200405
21 KRIT1 NM_194454.3(KRIT1):c.1974G>A (p.Val658=) SNV Uncertain significance 908345 GRCh37: 7:91842560-91842560
GRCh38: 7:92213246-92213246
22 KRIT1 NM_194456.1(KRIT1):c.451A>G (p.Thr151Ala) SNV Uncertain significance 468216 rs774330517 GRCh37: 7:91865761-91865761
GRCh38: 7:92236447-92236447
23 KRIT1 NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg) SNV Uncertain significance 908410 GRCh37: 7:91870339-91870339
GRCh38: 7:92241025-92241025
24 KRIT1 NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu) SNV Uncertain significance 908411 GRCh37: 7:91870433-91870433
GRCh38: 7:92241119-92241119
25 KRIT1 NM_194454.3(KRIT1):c.-421+185C>A SNV Uncertain significance 908478 GRCh37: 7:91874919-91874919
GRCh38: 7:92245605-92245605
26 KRIT1 NM_194454.3(KRIT1):c.1148A>G (p.His383Arg) SNV Uncertain significance 909189 GRCh37: 7:91855140-91855140
GRCh38: 7:92225826-92225826
27 KRIT1 , LOC113748416 NM_194456.1(KRIT1):c.-632A>C SNV Uncertain significance 909328 GRCh37: 7:91875262-91875262
GRCh38: 7:92245948-92245948
28 KRIT1 , LOC113748416 NM_194456.1(KRIT1):c.-647T>C SNV Uncertain significance 909329 GRCh37: 7:91875277-91875277
GRCh38: 7:92245963-92245963
29 KRIT1 NM_194456.1(KRIT1):c.*1357A>C SNV Uncertain significance 910155 GRCh37: 7:91828693-91828693
GRCh38: 7:92199379-92199379
30 KRIT1 NM_194454.3(KRIT1):c.*1205T>C SNV Uncertain significance 910156 GRCh37: 7:91828845-91828845
GRCh38: 7:92199531-92199531
31 KRIT1 NM_194454.3(KRIT1):c.*1029T>G SNV Uncertain significance 910157 GRCh37: 7:91829021-91829021
GRCh38: 7:92199707-92199707
32 KRIT1 NM_194454.3(KRIT1):c.*182A>G SNV Uncertain significance 910229 GRCh37: 7:91829868-91829868
GRCh38: 7:92200554-92200554
33 KRIT1 , LOC113748416 , ANKIB1 NM_019004.2(ANKIB1):c.-603C>G SNV Uncertain significance 910297 GRCh37: 7:91875321-91875321
GRCh38: 7:92246007-92246007
34 KRIT1 , LOC113748416 , ANKIB1 NM_019004.2(ANKIB1):c.-596C>T SNV Uncertain significance 910298 GRCh37: 7:91875328-91875328
GRCh38: 7:92246014-92246014
35 KRIT1 NM_194454.3(KRIT1):c.*918C>T SNV Uncertain significance 911042 GRCh37: 7:91829132-91829132
GRCh38: 7:92199818-92199818
36 KRIT1 NM_194454.3(KRIT1):c.*859C>T SNV Uncertain significance 911043 GRCh37: 7:91829191-91829191
GRCh38: 7:92199877-92199877
37 KRIT1 NM_194454.3(KRIT1):c.*648A>G SNV Uncertain significance 911044 GRCh37: 7:91829402-91829402
GRCh38: 7:92200088-92200088
38 KRIT1 NM_194454.3(KRIT1):c.*102C>T SNV Uncertain significance 911122 GRCh37: 7:91829948-91829948
GRCh38: 7:92200634-92200634
39 KRIT1 NM_194454.3(KRIT1):c.*77T>C SNV Uncertain significance 911123 GRCh37: 7:91829973-91829973
GRCh38: 7:92200659-92200659
40 KRIT1 NM_194454.3(KRIT1):c.-291T>C SNV Uncertain significance 911256 GRCh37: 7:91874356-91874356
GRCh38: 7:92245042-92245042
41 KRIT1 NM_194454.3(KRIT1):c.*8G>A SNV Uncertain significance 911327 GRCh37: 7:91830042-91830042
GRCh38: 7:92200728-92200728
42 KRIT1 NM_194456.1(KRIT1):c.2068T>C (p.Leu690=) SNV Uncertain significance 719853 rs370766145 GRCh37: 7:91830695-91830695
GRCh38: 7:92201381-92201381
43 KRIT1 NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys) SNV Uncertain significance 911390 GRCh37: 7:91864212-91864212
GRCh38: 7:92234898-92234898
44 KRIT1 , LOC113748416 , ANKIB1 NM_019004.2(ANKIB1):c.-524C>A SNV Uncertain significance 911511 GRCh37: 7:91875400-91875400
GRCh38: 7:92246086-92246086
45 KRIT1 NM_194456.1(KRIT1):c.*1555A>G SNV Uncertain significance 912216 GRCh37: 7:91828495-91828495
GRCh38: 7:92199181-92199181
46 KRIT1 NM_194456.1(KRIT1):c.*885A>T SNV Uncertain significance 360868 rs567470870 GRCh37: 7:91829165-91829165
GRCh38: 7:92199851-92199851
47 KRIT1 NM_194454.3(KRIT1):c.*450A>T SNV Uncertain significance 912280 GRCh37: 7:91829600-91829600
GRCh38: 7:92200286-92200286
48 KRIT1 NM_194454.3(KRIT1):c.845+10C>G SNV Likely benign 911389 GRCh37: 7:91864112-91864112
GRCh38: 7:92234798-92234798
49 KRIT1 NM_194456.1(KRIT1):c.*137del Deletion Likely benign 360878 rs543954194 GRCh37: 7:91829913-91829913
GRCh38: 7:92200599-92200599
50 KRIT1 NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys) SNV Likely benign 909259 GRCh37: 7:91871404-91871404
GRCh38: 7:92242090-92242090

Expression for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Search GEO for disease gene expression data for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas.

Pathways for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

GO Terms for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Sources for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

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
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45 MESH via Orphanet
46 MGI
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50 NCIt
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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