MCID: ANG035
MIFTS: 11

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 58 30 6

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early adulthood
no systemic symptoms


HPO:

33
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 An important gene associated with Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas is KRIT1 (KRIT1 Ankyrin Repeat Containing). Related phenotypes are hyperhidrosis and hemihypertrophy

Description from OMIM: 600419

Related Diseases for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Symptoms & Phenotypes for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Human phenotypes related to Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas:

33
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 33 HP:0000975
2 hemihypertrophy 33 HP:0001528
3 arteriovenous fistula 33 HP:0004947
4 angiokeratoma corporis diffusum 33 HP:0001071

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# 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 30

Anatomical Context for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Publications for Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

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 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRIT1 NM_194456.1(KRIT1): c.-701C> T single nucleotide variant Likely benign rs553392669 GRCh37 Chromosome 7, 91875331: 91875331
2 KRIT1 NM_194456.1(KRIT1): c.-701C> T single nucleotide variant Likely benign rs553392669 GRCh38 Chromosome 7, 92246017: 92246017
3 KRIT1 NM_194456.1(KRIT1): c.-689A> G single nucleotide variant Likely benign rs143215997 GRCh37 Chromosome 7, 91875319: 91875319
4 KRIT1 NM_194456.1(KRIT1): c.-689A> G single nucleotide variant Likely benign rs143215997 GRCh38 Chromosome 7, 92246005: 92246005
5 KRIT1 NM_194456.1(KRIT1): c.-590+8C> T single nucleotide variant Uncertain significance rs886062496 GRCh37 Chromosome 7, 91875212: 91875212
6 KRIT1 NM_194456.1(KRIT1): c.-590+8C> T single nucleotide variant Uncertain significance rs886062496 GRCh38 Chromosome 7, 92245898: 92245898
7 KRIT1 NM_194456.1(KRIT1): c.-589-5G> T single nucleotide variant Likely benign rs570721041 GRCh37 Chromosome 7, 91874914: 91874914
8 KRIT1 NM_194456.1(KRIT1): c.-589-5G> T single nucleotide variant Likely benign rs570721041 GRCh38 Chromosome 7, 92245600: 92245600
9 KRIT1 NM_194456.1(KRIT1): c.-544C> G single nucleotide variant Uncertain significance rs886062495 GRCh37 Chromosome 7, 91874864: 91874864
10 KRIT1 NM_194456.1(KRIT1): c.-544C> G single nucleotide variant Uncertain significance rs886062495 GRCh38 Chromosome 7, 92245550: 92245550
11 KRIT1 NM_194456.1(KRIT1): c.-394C> T single nucleotide variant Uncertain significance rs886062493 GRCh37 Chromosome 7, 91874459: 91874459
12 KRIT1 NM_194456.1(KRIT1): c.-394C> T single nucleotide variant Uncertain significance rs886062493 GRCh38 Chromosome 7, 92245145: 92245145
13 KRIT1 NM_194456.1(KRIT1): c.-312A> G single nucleotide variant Uncertain significance rs538102163 GRCh37 Chromosome 7, 91874377: 91874377
14 KRIT1 NM_194456.1(KRIT1): c.-312A> G single nucleotide variant Uncertain significance rs538102163 GRCh38 Chromosome 7, 92245063: 92245063
15 KRIT1 NM_194456.1(KRIT1): c.-307A> T single nucleotide variant Uncertain significance rs886062492 GRCh37 Chromosome 7, 91874372: 91874372
16 KRIT1 NM_194456.1(KRIT1): c.-307A> T single nucleotide variant Uncertain significance rs886062492 GRCh38 Chromosome 7, 92245058: 92245058
17 KRIT1 NM_194456.1(KRIT1): c.-174C> A single nucleotide variant Uncertain significance rs886062491 GRCh37 Chromosome 7, 91874239: 91874239
18 KRIT1 NM_194456.1(KRIT1): c.-174C> A single nucleotide variant Uncertain significance rs886062491 GRCh38 Chromosome 7, 92244925: 92244925
19 KRIT1 NM_194456.1(KRIT1): c.-2-7T> C single nucleotide variant Likely benign rs550533414 GRCh37 Chromosome 7, 91871458: 91871458
20 KRIT1 NM_194456.1(KRIT1): c.-2-7T> C single nucleotide variant Likely benign rs550533414 GRCh38 Chromosome 7, 92242144: 92242144
21 KRIT1 NM_194456.1(KRIT1): c.302G> T (p.Gly101Val) single nucleotide variant Likely benign rs147568834 GRCh37 Chromosome 7, 91867034: 91867034
22 KRIT1 NM_194456.1(KRIT1): c.302G> T (p.Gly101Val) single nucleotide variant Likely benign rs147568834 GRCh38 Chromosome 7, 92237720: 92237720
23 KRIT1 NM_194456.1(KRIT1): c.1245T> G (p.Ile415Met) single nucleotide variant Likely benign rs41278788 GRCh38 Chromosome 7, 92225729: 92225729
24 KRIT1 NM_194456.1(KRIT1): c.1245T> G (p.Ile415Met) single nucleotide variant Likely benign rs41278788 GRCh37 Chromosome 7, 91855043: 91855043
25 KRIT1 NM_194456.1(KRIT1): c.*132T> G single nucleotide variant Likely benign rs572414111 GRCh38 Chromosome 7, 92200604: 92200604
26 KRIT1 NM_194456.1(KRIT1): c.*132T> G single nucleotide variant Likely benign rs572414111 GRCh37 Chromosome 7, 91829918: 91829918
27 KRIT1 NM_194456.1(KRIT1): c.*137delC deletion Likely benign rs543954194 GRCh38 Chromosome 7, 92200599: 92200599
28 KRIT1 NM_194456.1(KRIT1): c.*137delC deletion Likely benign rs543954194 GRCh37 Chromosome 7, 91829913: 91829913
29 KRIT1 NM_194456.1(KRIT1): c.*451T> C single nucleotide variant Uncertain significance rs886062486 GRCh38 Chromosome 7, 92200285: 92200285
30 KRIT1 NM_194456.1(KRIT1): c.*451T> C single nucleotide variant Uncertain significance rs886062486 GRCh37 Chromosome 7, 91829599: 91829599
31 KRIT1 NM_194456.1(KRIT1): c.*1335T> C single nucleotide variant Benign rs17164414 GRCh38 Chromosome 7, 92199401: 92199401
32 KRIT1 NM_194456.1(KRIT1): c.*1335T> C single nucleotide variant Benign rs17164414 GRCh37 Chromosome 7, 91828715: 91828715
33 KRIT1 NM_194456.1(KRIT1): c.-780_-775dupCGGCTC duplication Uncertain significance rs886062498 GRCh38 Chromosome 7, 92246091: 92246096
34 KRIT1 NM_194456.1(KRIT1): c.-780_-775dupCGGCTC duplication Uncertain significance rs886062498 GRCh37 Chromosome 7, 91875405: 91875410
35 KRIT1 NM_194456.1(KRIT1): c.-680G> A single nucleotide variant Benign rs28365965 GRCh37 Chromosome 7, 91875310: 91875310
36 KRIT1 NM_194456.1(KRIT1): c.-680G> A single nucleotide variant Benign rs28365965 GRCh38 Chromosome 7, 92245996: 92245996
37 KRIT1 NM_194456.1(KRIT1): c.-590+12G> T single nucleotide variant Likely benign rs571563061 GRCh37 Chromosome 7, 91875208: 91875208
38 KRIT1 NM_194456.1(KRIT1): c.-590+12G> T single nucleotide variant Likely benign rs571563061 GRCh38 Chromosome 7, 92245894: 92245894
39 KRIT1 NM_194456.1(KRIT1): c.-356G> A single nucleotide variant Likely benign rs117169559 GRCh37 Chromosome 7, 91874421: 91874421
40 KRIT1 NM_194456.1(KRIT1): c.-356G> A single nucleotide variant Likely benign rs117169559 GRCh38 Chromosome 7, 92245107: 92245107
41 KRIT1 NM_194456.1(KRIT1): c.1063C> T (p.Leu355Phe) single nucleotide variant Likely benign rs182763805 GRCh37 Chromosome 7, 91855923: 91855923
42 KRIT1 NM_194456.1(KRIT1): c.1063C> T (p.Leu355Phe) single nucleotide variant Likely benign rs182763805 GRCh38 Chromosome 7, 92226609: 92226609
43 KRIT1 NM_194456.1(KRIT1): c.*1750C> T single nucleotide variant Likely benign rs188612683 GRCh37 Chromosome 7, 91828300: 91828300
44 KRIT1 NM_194456.1(KRIT1): c.*1750C> T single nucleotide variant Likely benign rs188612683 GRCh38 Chromosome 7, 92198986: 92198986
45 KRIT1 NM_194456.1(KRIT1): c.*57G> A single nucleotide variant Likely benign rs529937203 GRCh38 Chromosome 7, 92200679: 92200679
46 KRIT1 NM_194456.1(KRIT1): c.*57G> A single nucleotide variant Likely benign rs529937203 GRCh37 Chromosome 7, 91829993: 91829993
47 KRIT1 NM_194456.1(KRIT1): c.*141C> T single nucleotide variant Likely benign rs117325194 GRCh38 Chromosome 7, 92200595: 92200595
48 KRIT1 NM_194456.1(KRIT1): c.*141C> T single nucleotide variant Likely benign rs117325194 GRCh37 Chromosome 7, 91829909: 91829909
49 KRIT1 NM_194456.1(KRIT1): c.*272G> A single nucleotide variant Benign rs28502064 GRCh38 Chromosome 7, 92200464: 92200464
50 KRIT1 NM_194456.1(KRIT1): c.*272G> A single nucleotide variant Benign rs28502064 GRCh37 Chromosome 7, 91829778: 91829778

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

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