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.1980A> G (p.Val660=) single nucleotide variant Benign rs11542682 GRCh37 Chromosome 7, 91842554: 91842554
2 KRIT1 NM_194456.1(KRIT1): c.1980A> G (p.Val660=) single nucleotide variant Benign rs11542682 GRCh38 Chromosome 7, 92213240: 92213240
3 KRIT1 NM_194456.1(KRIT1): c.1326C> G (p.Thr442=) single nucleotide variant Likely benign rs150912644 GRCh37 Chromosome 7, 91852221: 91852221
4 KRIT1 NM_194456.1(KRIT1): c.1326C> G (p.Thr442=) single nucleotide variant Likely benign rs150912644 GRCh38 Chromosome 7, 92222907: 92222907
5 KRIT1 NM_194456.1(KRIT1): c.1140G> A (p.Thr380=) single nucleotide variant Likely benign rs140009885 GRCh37 Chromosome 7, 91855846: 91855846
6 KRIT1 NM_194456.1(KRIT1): c.1140G> A (p.Thr380=) single nucleotide variant Likely benign rs140009885 GRCh38 Chromosome 7, 92226532: 92226532
7 KRIT1 NM_194456.1(KRIT1): c.1095A> G (p.Gly365=) single nucleotide variant Benign/Likely benign rs143710815 GRCh37 Chromosome 7, 91855891: 91855891
8 KRIT1 NM_194456.1(KRIT1): c.1095A> G (p.Gly365=) single nucleotide variant Benign/Likely benign rs143710815 GRCh38 Chromosome 7, 92226577: 92226577
9 KRIT1 NM_194456.1(KRIT1): c.*1655T> G single nucleotide variant Uncertain significance rs886062484 GRCh38 Chromosome 7, 92199081: 92199081
10 KRIT1 NM_194456.1(KRIT1): c.*1655T> G single nucleotide variant Uncertain significance rs886062484 GRCh37 Chromosome 7, 91828395: 91828395
11 KRIT1 NM_194456.1(KRIT1): c.*1385A> G single nucleotide variant Benign rs62467792 GRCh37 Chromosome 7, 91828665: 91828665
12 KRIT1 NM_194456.1(KRIT1): c.*1385A> G single nucleotide variant Benign rs62467792 GRCh38 Chromosome 7, 92199351: 92199351
13 KRIT1 NM_194456.1(KRIT1): c.*378dupA duplication Benign rs34910226 GRCh37 Chromosome 7, 91829672: 91829672
14 KRIT1 NM_194456.1(KRIT1): c.*378dupA duplication Benign rs34910226 GRCh38 Chromosome 7, 92200358: 92200358
15 KRIT1 NM_194456.1(KRIT1): c.*361C> G single nucleotide variant Uncertain significance rs886062489 GRCh37 Chromosome 7, 91829689: 91829689
16 KRIT1 NM_194456.1(KRIT1): c.*361C> G single nucleotide variant Uncertain significance rs886062489 GRCh38 Chromosome 7, 92200375: 92200375
17 KRIT1 NM_194456.1(KRIT1): c.*320C> T single nucleotide variant Likely benign rs112567410 GRCh37 Chromosome 7, 91829730: 91829730
18 KRIT1 NM_194456.1(KRIT1): c.*320C> T single nucleotide variant Likely benign rs112567410 GRCh38 Chromosome 7, 92200416: 92200416
19 KRIT1 NM_194456.1(KRIT1): c.1139C> T (p.Thr380Met) single nucleotide variant Likely benign rs533696377 GRCh38 Chromosome 7, 92226533: 92226533
20 KRIT1 NM_194456.1(KRIT1): c.1139C> T (p.Thr380Met) single nucleotide variant Likely benign rs533696377 GRCh37 Chromosome 7, 91855847: 91855847
21 KRIT1 NM_194456.1(KRIT1): c.846-5dupA duplication Conflicting interpretations of pathogenicity rs373763254 GRCh38 Chromosome 7, 92234597: 92234597
22 KRIT1 NM_194456.1(KRIT1): c.846-5dupA duplication Conflicting interpretations of pathogenicity rs373763254 GRCh37 Chromosome 7, 91863911: 91863911
23 KRIT1 NM_194456.1(KRIT1): c.-591C> T single nucleotide variant Uncertain significance rs886062497 GRCh38 Chromosome 7, 92245907: 92245907
24 KRIT1 NM_194456.1(KRIT1): c.-591C> T single nucleotide variant Uncertain significance rs886062497 GRCh37 Chromosome 7, 91875221: 91875221
25 KRIT1 NM_194456.1(KRIT1): c.*1702A> G single nucleotide variant Likely benign rs192818018 GRCh38 Chromosome 7, 92199034: 92199034
26 KRIT1 NM_194456.1(KRIT1): c.*1702A> G single nucleotide variant Likely benign rs192818018 GRCh37 Chromosome 7, 91828348: 91828348
27 KRIT1 NM_194456.1(KRIT1): c.*1444T> G single nucleotide variant Benign rs10240962 GRCh37 Chromosome 7, 91828606: 91828606
28 KRIT1 NM_194456.1(KRIT1): c.*1444T> G single nucleotide variant Benign rs10240962 GRCh38 Chromosome 7, 92199292: 92199292
29 KRIT1 NM_194456.1(KRIT1): c.*62A> C single nucleotide variant Uncertain significance rs886062490 GRCh37 Chromosome 7, 91829988: 91829988
30 KRIT1 NM_194456.1(KRIT1): c.*62A> C single nucleotide variant Uncertain significance rs886062490 GRCh38 Chromosome 7, 92200674: 92200674
31 KRIT1 NM_194456.1(KRIT1): c.2080_2085delGATACT (p.Asp694_Thr695del) deletion Uncertain significance rs764839013 GRCh37 Chromosome 7, 91830678: 91830683
32 KRIT1 NM_194456.1(KRIT1): c.2080_2085delGATACT (p.Asp694_Thr695del) deletion Uncertain significance rs764839013 GRCh38 Chromosome 7, 92201364: 92201369
33 KRIT1 NM_194456.1(KRIT1): c.1412-9G> A single nucleotide variant Likely benign rs199932606 GRCh37 Chromosome 7, 91851376: 91851376
34 KRIT1 NM_194456.1(KRIT1): c.1412-9G> A single nucleotide variant Likely benign rs199932606 GRCh38 Chromosome 7, 92222062: 92222062
35 KRIT1 NM_194456.1(KRIT1): c.1146+8A> T single nucleotide variant Likely benign rs182762651 GRCh37 Chromosome 7, 91855832: 91855832
36 KRIT1 NM_194456.1(KRIT1): c.1146+8A> T single nucleotide variant Likely benign rs182762651 GRCh38 Chromosome 7, 92226518: 92226518
37 KRIT1 NM_194456.1(KRIT1): c.77G> A (p.Arg26Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34358665 GRCh38 Chromosome 7, 92242059: 92242059
38 KRIT1 NM_194456.1(KRIT1): c.77G> A (p.Arg26Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34358665 GRCh37 Chromosome 7, 91871373: 91871373
39 KRIT1 NM_194456.1(KRIT1): c.-43C> T single nucleotide variant Likely benign rs193080208 GRCh38 Chromosome 7, 92244042: 92244042
40 KRIT1 NM_194456.1(KRIT1): c.-43C> T single nucleotide variant Likely benign rs193080208 GRCh37 Chromosome 7, 91873356: 91873356
41 KRIT1 NM_194456.1(KRIT1): c.-441C> G single nucleotide variant Uncertain significance rs886062494 GRCh38 Chromosome 7, 92245447: 92245447
42 KRIT1 NM_194456.1(KRIT1): c.-441C> G single nucleotide variant Uncertain significance rs886062494 GRCh37 Chromosome 7, 91874761: 91874761
43 KRIT1 NM_194456.1(KRIT1): c.-628T> A single nucleotide variant Uncertain significance rs745344627 GRCh38 Chromosome 7, 92245944: 92245944
44 KRIT1 NM_194456.1(KRIT1): c.-628T> A single nucleotide variant Uncertain significance rs745344627 GRCh37 Chromosome 7, 91875258: 91875258
45 KRIT1 NM_194456.1(KRIT1): c.-741C> T single nucleotide variant Benign rs58075588 GRCh38 Chromosome 7, 92246057: 92246057
46 KRIT1 NM_194456.1(KRIT1): c.-741C> T single nucleotide variant Benign rs58075588 GRCh37 Chromosome 7, 91875371: 91875371
47 KRIT1 NM_194456.1(KRIT1): c.*1363T> G single nucleotide variant Likely benign rs148980420 GRCh37 Chromosome 7, 91828687: 91828687
48 KRIT1 NM_194456.1(KRIT1): c.*1363T> G single nucleotide variant Likely benign rs148980420 GRCh38 Chromosome 7, 92199373: 92199373
49 KRIT1 NM_194456.1(KRIT1): c.*885A> T single nucleotide variant Uncertain significance rs567470870 GRCh37 Chromosome 7, 91829165: 91829165
50 KRIT1 NM_194456.1(KRIT1): c.*885A> T single nucleotide variant Uncertain significance rs567470870 GRCh38 Chromosome 7, 92199851: 92199851

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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