AKU
MCID: ALK013
MIFTS: 61

Alkaptonuria (AKU)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Alkaptonuria

MalaCards integrated aliases for Alkaptonuria:

Name: Alkaptonuria 57 11 24 19 42 58 75 73 28 12 53 5 43 14 38 71 33
Homogentisic Acid Oxidase Deficiency 57 19 42 58 73 33
Alcaptonuria 11 24 19 42 33
Aku 57 19 42 73
Homogentisate 1,2-Dioxygenase Deficiency 11 33
Deficiency of Homogentisicase 11 33
Alkaptonuric Ochronosis 19 71
Ochronosis, Hereditary 19 71
Homogentisic Acidura 19 42
Deficiency of Homogentisate Oxygenase 33
Hereditary Ochronosis 58
Homogentisicaciduria 33
Ochronosis 33

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/1000000 (Worldwide, Europe, France) 1-9/100000 (Slovakia, Slovakia) 58

Age Of Onset:

Adult,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
urine turns dark on standing and alkalinization
joint symptoms begin in third or fourth decade
affects 1 in 250,000 to 1 million people worldwide


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:9270
OMIM® 57 203500
MeSH 43 D000474
NCIt 49 C84546
SNOMED-CT 68 24250001
MESH via Orphanet 44 C537862 D000474
ICD10 via Orphanet 32 E70.2
UMLS via Orphanet 72 C0002066 C2931645
Orphanet 58 ORPHA56
MedGen 40 C0002066
ICD11 33 1761652827
UMLS 71 C0002066 C1444199 C2931645

Summaries for Alkaptonuria

OMIM®: 57 Alkaptonuria is an autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of the cardiac valves (summary by Vilboux et al., 2009). Alkaptonuria enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed (by Garrod, 1902, on the suggestion of Bateson) and of being 1 of the 4 conditions in the charter group of inborn errors of metabolism. The manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and arthritis, especially characteristic in the spine. (203500) (Updated 08-Dec-2022)

MalaCards based summary: Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and abdominal obesity-metabolic syndrome 1, and has symptoms including back pain An important gene associated with Alkaptonuria is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Nitisinone and D-Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and eye, and related phenotypes are joint stiffness and aminoaciduria

MedlinePlus Genetics: 42 Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.

GARD: 19 Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of Alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by genetic changes in the HGD gene. It is inherited in an autosomal recessive fashion.

Orphanet: 58 A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

UniProtKB/Swiss-Prot: 73 An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.

Disease Ontology: 11 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Wikipedia: 75 Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the... more...

GeneReviews: NBK1454

Related Diseases for Alkaptonuria

Diseases related to Alkaptonuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 ochronosis 32.2 TYR HPD HGD FAH
2 abdominal obesity-metabolic syndrome 1 30.8 PAH HGD FAH
3 pentosuria 30.0 HPD HGD
4 ornithine transcarbamylase deficiency, hyperammonemia due to 29.7 PAH FAH ADSL
5 classic phenylketonuria 29.5 QDPR PAH
6 vitiligo-associated multiple autoimmune disease susceptibility 1 29.5 TYR QDPR PAH
7 tyrosinemia, type ii 29.5 TAT HPD HGD GSTZ1 FAH
8 tyrosinemia 29.2 TYR TAT QDPR PRODH PAH HPD
9 phenylketonuria 29.2 QDPR PRODH PAH HPD ADSL
10 amino acid metabolic disorder 28.9 TAT PRODH PAH MAT1A HPD HGD
11 tyrosinemia, type i 28.5 TYR TAT MAT1A HPD HGD GSTZ1
12 histidinemia 28.5 QDPR PRODH NIT2 MAT1A ADSL
13 inherited metabolic disorder 11.0
14 exogenous ochronosis 10.9
15 inborn amino acid metabolism disorder 10.9
16 osteoarthritis 10.7
17 arthropathy 10.7
18 aortic valve disease 2 10.5
19 disorder of tyrosine metabolism 10.4
20 nephrolithiasis, calcium oxalate 10.3
21 spondyloarthropathy 1 10.3
22 keratopathy 10.3
23 aspergillosis 10.3
24 aortic valve disease 3 10.3
25 spondyloarthropathy 10.3
26 aortic valve disease 1 10.2
27 atelosteogenesis, type ii 10.2
28 spondylosis 10.2
29 pigmentation anomaly of the skin 10.2
30 hypophosphatasia, adult 10.2
31 cartilage disease 10.2
32 amyloidosis 10.2
33 argyria 10.2
34 tatton-brown-rahman syndrome 10.1
35 pyrimidine metabolic disorder 10.1 PRODH ADSL
36 dihydropyrimidinase deficiency 10.1 PRODH ADSL
37 serum amyloid a amyloidosis 10.1
38 kidney disease 10.1
39 citrullinemia, classic 10.1 PRODH PAH FAH
40 hyperprolinemia, type i 10.1 PRODH MAT1A
41 purine nucleoside phosphorylase deficiency 10.1 AHCY ADSL
42 nijmegen breakage syndrome 10.1
43 parkinsonism 10.1
44 spinal cord disease 10.1
45 heart valve disease 10.1
46 back pain 10.1
47 purine-pyrimidine metabolic disorder 10.0 AHCY ADSL
48 biotinidase deficiency 10.0 PRODH ADSL
49 aortic valve insufficiency 10.0
50 visual epilepsy 10.0

Graphical network of the top 20 diseases related to Alkaptonuria:



Diseases related to Alkaptonuria

Symptoms & Phenotypes for Alkaptonuria

Human phenotypes related to Alkaptonuria:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001387
2 aminoaciduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003355
3 hearing abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000364
4 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002829
5 abnormality of vision 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000504
6 joint swelling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001386
7 joint dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001373
8 osteoarthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002758
9 blue sclerae 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000592
10 irregular hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007400
11 coronary artery calcification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001717
12 intervertebral disk calcification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005645
13 calcification of cartilage 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100593
14 abnormality of the nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001597
15 nephrolithiasis 58 30 Very rare (1%) Frequent (79-30%)
HP:0000787
16 mitral valve calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0004382
17 abnormality of the nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000366
18 prostatitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000024
19 aortic valve calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0004380
20 thickened achilles tendon 58 30 Very rare (1%) Frequent (79-30%)
HP:0004690
21 tendon rupture 58 30 Frequent (33%) Frequent (79-30%)
HP:0100550
22 cartilage destruction 58 30 Frequent (33%) Frequent (79-30%)
HP:0100773
23 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
24 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
25 myocardial infarction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001658
26 atherosclerosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002621
27 kyphosis 30 Very rare (1%) HP:0002808
28 decreased glomerular filtration rate 30 Very rare (1%) HP:0012213
29 limited hip movement 30 Very rare (1%) HP:0008800
30 limited shoulder movement 30 Very rare (1%) HP:0006467
31 low back pain 30 Very rare (1%) HP:0003419
32 limitation of knee mobility 30 Very rare (1%) HP:0010501
33 ochronosis 30 Very rare (1%) HP:0030764
34 elevated urinary homogentisic acid 30 Very rare (1%) HP:0033704
35 arthritis 58 30 Very frequent (99-80%)
HP:0001369
36 abnormal heart valve morphology 58 Frequent (79-30%)
37 abnormality of the eye 58 Very frequent (99-80%)
38 vertebral fusion 30 HP:0002948
39 abnormality of skin pigmentation 58 Very frequent (99-80%)
40 aortic aneurysm 30 HP:0004942
41 arthropathy 30 HP:0003040
42 intervertebral disc degeneration 30 HP:0008419
43 growth abnormality 30 HP:0001507
44 pigmentation of the sclera 30 HP:0007832
45 diminished physical functioning 30 HP:0033666

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
kyphosis
back pain
degeneration of intervertebral disks
fusion of vertebral bodies
decreased lumbar flexion

Skeletal Feet:
thickened achilles tendon

Genitourinary Kidneys:
urolithiasis

Growth Height:
height loss secondary to spinal changes

Genitourinary Internal Genitalia Male:
ochronotic prostate stones

Cardiovascular Heart:
mitral valve calcification
coronary artery calcification
aortic valve calcification
aortic dilatation

Head And Neck Eyes:
pigmentation of the sclera

Skeletal:
chronic joint pain
ochronotic pigmentation of fibrous tissues including cartilage, tendons, ligaments
ochronotic arthritis
ochronotic arthropathy

Head And Neck Ears:
pigmentation of the ear cartilage

Laboratory Abnormalities:
increased plasma homogentisic acid (hga)
increased urinary hga
decreased liver homogentisate 1,2-dioxygenase activity

Clinical features from OMIM®:

203500 (Updated 08-Dec-2022)

UMLS symptoms related to Alkaptonuria:


back pain

GenomeRNAi Phenotypes related to Alkaptonuria according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 ADSL AHCY ARL13B CHIT1 FAH GSTZ1
2 no effect GR00402-S-2 10.11 ADSL ARL13B FAH GSTZ1 HGD HPD

MGI Mouse Phenotypes related to Alkaptonuria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ADSL AHCY ARL13B FAH GSTZ1 HGD
2 renal/urinary system MP:0005367 9.7 ARL13B FAH GSTZ1 HGD HPD PAH
3 vision/eye MP:0005391 9.23 ADSL ARL13B FAH HGD PAH SMO

Drugs & Therapeutics for Alkaptonuria

Drugs for Alkaptonuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 2, Phase 3 104206-65-7 115355
2
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An International, Multicentre, Randomised, Evaluator-blind, No-treatment Controlled, Parallel-group Study to Assess the Efficacy and Safety of Once Daily Nitisinone in Patients With Alkaptonuria After 12 Months of Treatment, Followed by an Additional 36 Month Treatment Period. Unknown status NCT01916382 Phase 3 Nitisinone
2 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Completed NCT01390077 Phase 2, Phase 3 Nitisinone
3 Long-Term Clinical Trial of Nitisinone in Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
4 An International, Multicentre, Randomised, Open-label, No-treatment Controlled, Parallel-group, Dose-response Study to Investigate the Effect of Once Daily Nitisinone on 24-hour Urinary Homogentisic Acid Excretion in Patients With Alkaptonuria After 4 Weeks Treatment. Completed NCT01828463 Phase 2 Nitisinone
5 An Acceptability Study to Evaluate the Adherence, Tolerance and Metabolic Control of Patients With Tyrosinaemia, When Using TYR Sphere (a Food for Special Medical Purposes (FSMP)) as Part of Dietary Management. Completed NCT04196959
6 Questionnaire Follow=up Study Sonia 2 Recruiting NCT04510142
7 Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria Recruiting NCT00005909
8 Determining Individualised Gait Modification Strategies to Reduce Knee Joint Moments in Alkaptonuria Patients Using Real-time Feedback Not yet recruiting NCT04142671

Search NIH Clinical Center for Alkaptonuria

Cochrane evidence based reviews: alkaptonuria

Genetic Tests for Alkaptonuria

Genetic tests related to Alkaptonuria:

# Genetic test Affiliating Genes
1 Alkaptonuria 28 HGD

Anatomical Context for Alkaptonuria

Organs/tissues related to Alkaptonuria:

MalaCards : Skin, Prostate, Eye, Kidney, Heart, Bone, Liver

Publications for Alkaptonuria

Articles related to Alkaptonuria:

(show top 50) (show all 1493)
# Title Authors PMID Year
1
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 53 62 24 57 5
19862842 2009
2
Natural history of alkaptonuria. 53 62 24 57 5
12501223 2002
3
Mutational analysis of the HGO gene in Finnish alkaptonuria patients. 53 62 24 57 5
10594001 1999
4
Allelic heterogeneity of alkaptonuria in Central Europe. 53 62 24 57 5
10482952 1999
5
Molecular defects in alkaptonuria. 53 62 24 57 5
9154114 1997
6
The molecular basis of alkaptonuria. 53 62 24 57 5
8782815 1996
7
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 62 24 57 5
9529363 1998
8
Alkaptonuria caused by compound heterozygote mutations. 62 57 5
12872815 2003
9
Structural and functional analysis of mutations in alkaptonuria. 62 57 5
11001939 2000
10
Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria. 62 57 5
10970188 2000
11
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene. 62 24 5
12114497 2002
12
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. 62 24 57
2771520 1989
13
OCHRONOSIS FROM QUINACRINE (ATABRINE). 62 24 57
14065956 1963
14
R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE. 53 62 5
18945288 2009
15
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families. 53 62 5
16085442 2006
16
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. 53 62 5
12872836 2003
17
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 53 62 5
10340975 1999
18
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). 53 62 5
10205262 1999
19
Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood. 53 62 5
9674916 1998
20
The human gene for alkaptonuria (AKU) maps to chromosome 3q. 53 62 57
8188241 1994
21
A novel deep intronic variant strongly associates with Alkaptonuria. 62 5
34686677 2021
22
Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients. 62 57
34059444 2021
23
Presentation of 14 alkaptonuria patients from Turkey. 62 5
31927521 2020
24
Alkaptonuria: a disease with dark brown urine. 62 5
27026014 2016
25
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. 62 5
25804398 2016
26
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 62 5
25681086 2015
27
First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria. 62 5
25233259 2014
28
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. 62 5
23430897 2012
29
An update on molecular genetics of Alkaptonuria (AKU). 62 5
21720873 2011
30
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD). 62 5
21822197 2011
31
Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years. 62 5
20462779 2010
32
Three-generational alkaptonuria in a non-consanguineous family. 62 5
19096913 2008
33
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. 53 62 24
15529343 2004
34
Rapid detection methods for five HGO gene mutations causing alkaptonuria. 53 62 24
12630963 2003
35
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. 62 5
12051967 2002
36
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. 53 62 24
11017803 2000
37
Increased urolithiasis in patients with alkaptonuria in childhood. 62 57
10945668 2000
38
A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. 62 57
10083729 1999
39
Effects of ascorbic acid and low-protein diet in alkaptonuria. 62 57
9809834 1998
40
Are we ready to try to cure alkaptonuria? 62 57
9529368 1998
41
aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. 62 57
8188247 1994
42
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. 62 57
8252048 1993
43
Exogenous ochronosis. 62 57
8463477 1993
44
Prostatic and renal stones and unilateral obstruction of the urinary tract caused by ochronosis. 62 57
1727353 1992
45
Bilateral hip and bilateral knee arthroplasties in a patient with ochronotic arthropathy. 62 57
2270175 1990
46
Ochronosis and alkaptonuria: report of a new case with calcified aortic valve stenosis. 62 57
2316305 1990
47
Rapidly progressive hip osteoarthrosis--an unusual presentation of ochronosis. 62 57
2667832 1989
48
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. 62 57
6543841 1984
49
Alkaptonuria and ochronosis. A survey and 5 cases. 62 57
6862457 1983
50
Alcaptonuria and sucrase-isomaltase deficiency in three offspring of a consanguineous marriage. 62 57
7347488 1981

Variations for Alkaptonuria

ClinVar genetic disease variations for Alkaptonuria:

5 (show top 50) (show all 243)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HGD NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) INDEL Pathogenic
371197 rs1057517081 GRCh37: 3:120352163-120352165
GRCh38: 3:120633316-120633318
2 HGD NM_000187.4(HGD):c.16-272_87+305del DEL Pathogenic
156275 rs1553721650 GRCh37: 3:120394334-120394982
GRCh38: 3:120675487-120676135
3 HGD NM_000187.4(HGD):c.1A>G (p.Met1Val) SNV Pathogenic
929477 rs1708240463 GRCh37: 3:120400958-120400958
GRCh38: 3:120682111-120682111
4 HGD NM_000187.4(HGD):c.1031del (p.Gly344fs) DEL Pathogenic
1264347 GRCh37: 3:120352151-120352151
GRCh38: 3:120633304-120633304
5 HGD NM_000187.4(HGD):c.1007-2A>T SNV Pathogenic
1457863 GRCh37: 3:120352177-120352177
GRCh38: 3:120633330-120633330
6 HGD NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter) SNV Pathogenic
1458490 GRCh37: 3:120347296-120347296
GRCh38: 3:120628449-120628449
7 HGD NM_000187.4(HGD):c.359G>T (p.Cys120Phe) SNV Pathogenic
1387389 GRCh37: 3:120369696-120369696
GRCh38: 3:120650849-120650849
8 overlap with 111 genes NC_000003.11:g.(?_120365818)_(133465047_?)del DEL Pathogenic
1452099 GRCh37: 3:120365818-133465047
GRCh38:
9 HGD NM_000187.4(HGD):c.1039C>T (p.Arg347Ter) SNV Pathogenic
850435 rs975005146 GRCh37: 3:120352143-120352143
GRCh38: 3:120633296-120633296
10 HGD NM_000187.4(HGD):c.186T>G (p.Tyr62Ter) SNV Pathogenic
1075699 GRCh37: 3:120389370-120389370
GRCh38: 3:120670523-120670523
11 HGD NM_000187.4(HGD):c.583G>T (p.Glu195Ter) SNV Pathogenic
1075956 GRCh37: 3:120365180-120365180
GRCh38: 3:120646333-120646333
12 HGD NM_000187.4(HGD):c.291G>A (p.Trp97Ter) SNV Pathogenic
855743 rs766714128 GRCh37: 3:120371490-120371490
GRCh38: 3:120652643-120652643
13 HGD NM_000187.4(HGD):c.1078G>C (p.Gly360Arg) SNV Pathogenic
640206 rs368717991 GRCh37: 3:120352104-120352104
GRCh38: 3:120633257-120633257
14 HGD NM_000187.4(HGD):c.502G>T (p.Glu168Ter) SNV Pathogenic
1450820 GRCh37: 3:120365867-120365867
GRCh38: 3:120647020-120647020
15 HGD NM_000187.4(HGD):c.1019del (p.Ser340fs) DEL Pathogenic
1069035 GRCh37: 3:120352163-120352163
GRCh38: 3:120633316-120633316
16 HGD NM_000187.4(HGD):c.1112A>G (p.His371Arg) SNV Pathogenic
3172 rs120074172 GRCh37: 3:120352070-120352070
GRCh38: 3:120633223-120633223
17 HGD NM_000187.4(HGD):c.990G>T (p.Arg330Ser) SNV Pathogenic
3167 rs120074171 GRCh37: 3:120357318-120357318
GRCh38: 3:120638471-120638471
18 HGD NC_000003.12:g.(?_120647857)_(120647931_?)del DEL Pathogenic
830678 GRCh37: 3:120366704-120366778
GRCh38:
19 HGD NM_000187.4(HGD):c.469+1G>C SNV Pathogenic
967202 rs1260545974 GRCh37: 3:120366723-120366723
GRCh38: 3:120647876-120647876
20 HGD NM_000187.4(HGD):c.1006+2T>A SNV Pathogenic
1069590 GRCh37: 3:120357300-120357300
GRCh38: 3:120638453-120638453
21 HGD NM_000187.4(HGD):c.125A>C (p.Glu42Ala) SNV Pathogenic
1071746 GRCh37: 3:120393799-120393799
GRCh38: 3:120674952-120674952
22 HGD NM_000187.4(HGD):c.1288del (p.Leu430fs) DEL Pathogenic
1071828 GRCh37: 3:120347277-120347277
GRCh38: 3:120628430-120628430
23 HGD NM_000187.4(HGD):c.1188+1G>A SNV Pathogenic
1073765 GRCh37: 3:120351993-120351993
GRCh38: 3:120633146-120633146
24 HGD NM_000187.4(HGD):c.1185del (p.Met396fs) DEL Pathogenic
1076110 GRCh37: 3:120351997-120351997
GRCh38: 3:120633150-120633150
25 HGD NM_000187.4(HGD):c.502G>A (p.Glu168Lys) SNV Pathogenic
944660 rs375283568 GRCh37: 3:120365867-120365867
GRCh38: 3:120647020-120647020
26 HGD NM_000187.4(HGD):c.1245del (p.Ser416fs) DEL Pathogenic
1368315 GRCh37: 3:120347320-120347320
GRCh38: 3:120628473-120628473
27 HGD NM_000187.4(HGD):c.1111del (p.His371fs) DEL Pathogenic
1454693 GRCh37: 3:120352071-120352071
GRCh38: 3:120633224-120633224
28 HGD NM_000187.4(HGD):c.11T>C (p.Leu4Ser) SNV Pathogenic
1456230 GRCh37: 3:120400948-120400948
GRCh38: 3:120682101-120682101
29 HGD NM_000187.4(HGD):c.688C>T (p.Pro230Ser) SNV Pathogenic
3165 rs28942100 GRCh37: 3:120363252-120363252
GRCh38: 3:120644405-120644405
30 HGD NM_000187.4(HGD):c.457dup (p.Asp153fs) DUP Pathogenic
3169 rs397515346 GRCh37: 3:120366735-120366736
GRCh38: 3:120647888-120647889
31 HGD NM_000187.4(HGD):c.16-1G>A SNV Pathogenic
3170 rs397515347 GRCh37: 3:120394711-120394711
GRCh38: 3:120675864-120675864
32 HGD NM_000187.4(HGD):c.175del (p.Ser59fs) DEL Pathogenic
3171 rs397515517 GRCh37: 3:120393749-120393749
GRCh38: 3:120674902-120674902
33 HGD NM_000187.4(HGD):c.808G>A (p.Gly270Arg) SNV Pathogenic
3175 rs120074174 GRCh37: 3:120360507-120360507
GRCh38: 3:120641660-120641660
34 HGD NM_000187.4(HGD):c.1111dup (p.His371fs) DUP Pathogenic
65573 rs397515516 GRCh37: 3:120352070-120352071
GRCh38: 3:120633223-120633224
35 HGD NM_000187.4(HGD):c.360T>G (p.Cys120Trp) SNV Pathogenic
65578 rs149165166 GRCh37: 3:120369695-120369695
GRCh38: 3:120650848-120650848
36 HGD NM_000187.4(HGD):c.1102A>G (p.Met368Val) SNV Pathogenic
3173 rs120074173 GRCh37: 3:120352080-120352080
GRCh38: 3:120633233-120633233
37 HGD NM_000187.4(HGD):c.189G>T (p.Arg63Ser) SNV Pathogenic
437464 rs1390061303 GRCh37: 3:120389367-120389367
GRCh38: 3:120670520-120670520
38 HGD NM_000187.4(HGD):c.481G>A (p.Gly161Arg) SNV Pathogenic
3168 rs28941783 GRCh37: 3:120365888-120365888
GRCh38: 3:120647041-120647041
39 HGD NM_000187.3(HGD):c.651_652delGG DEL Pathogenic
643931 rs786204662 GRCh37: 3:120363288-120363289
GRCh38: 3:120644441-120644442
40 HGD NM_000187.4(HGD):c.899T>G (p.Val300Gly) SNV Pathogenic/Likely Pathogenic
3166 rs120074170 GRCh37: 3:120357409-120357409
GRCh38: 3:120638562-120638562
41 HGD NM_000187.3(HGD):c.652delG DEL Pathogenic/Likely Pathogenic
189061 rs786204662 GRCh37: 3:120363288-120363288
GRCh38: 3:120644441-120644441
42 HGD NM_000187.4(HGD):c.1201G>C (p.Glu401Gln) SNV Pathogenic/Likely Pathogenic
371502 rs767159114 GRCh37: 3:120347364-120347364
GRCh38: 3:120628517-120628517
43 HGD NM_000187.4(HGD):c.1188+1G>T SNV Pathogenic/Likely Pathogenic
370979 rs760206323 GRCh37: 3:120351993-120351993
GRCh38: 3:120633146-120633146
44 HGD NM_000187.4(HGD):c.11T>A (p.Leu4Ter) SNV Pathogenic/Likely Pathogenic
188717 rs786204422 GRCh37: 3:120400948-120400948
GRCh38: 3:120682101-120682101
45 HGD NM_000187.4(HGD):c.342+1G>T SNV Pathogenic/Likely Pathogenic
189127 rs397515518 GRCh37: 3:120371438-120371438
GRCh38: 3:120652591-120652591
46 HGD NM_000187.4(HGD):c.365C>T (p.Ala122Val) SNV Pathogenic/Likely Pathogenic
188865 rs544956641 GRCh37: 3:120369690-120369690
GRCh38: 3:120650843-120650843
47 HGD NM_000187.4(HGD):c.970dup (p.Val324fs) DUP Pathogenic/Likely Pathogenic
371566 rs34214309 GRCh37: 3:120357337-120357338
GRCh38: 3:120638490-120638491
48 HGD NM_000187.4(HGD):c.367G>A (p.Gly123Arg) SNV Pathogenic/Likely Pathogenic
1065535 rs564979861 GRCh37: 3:120369688-120369688
GRCh38: 3:120650841-120650841
49 HGD NM_000187.4(HGD):c.566G>T (p.Ser189Ile) SNV Likely Pathogenic
1065558 GRCh37: 3:120365197-120365197
GRCh38: 3:120646350-120646350
50 HGD NM_000187.4(HGD):c.179G>A (p.Trp60Ter) SNV Likely Pathogenic
370411 rs1057516467 GRCh37: 3:120389377-120389377
GRCh38: 3:120670530-120670530

UniProtKB/Swiss-Prot genetic disease variations for Alkaptonuria:

73 (show top 50) (show all 68)
# Symbol AA change Variation ID SNP ID
1 HGD p.Glu42Ala VAR_005272 rs373921680
2 HGD p.Trp60Gly VAR_005273
3 HGD p.Tyr62Cys VAR_005274 rs1174584850
4 HGD p.Trp97Gly VAR_005275
5 HGD p.Ala122Asp VAR_005276
6 HGD p.Asp153Gly VAR_005277 rs775274569
7 HGD p.Gly161Arg VAR_005278 rs28941783
8 HGD p.Ser189Ile VAR_005279
9 HGD p.Ile216Thr VAR_005280 rs767201131
10 HGD p.Arg225His VAR_005281 rs562853291
11 HGD p.Phe227Ser VAR_005282
12 HGD p.Pro230Ser VAR_005283 rs28942100
13 HGD p.Pro230Thr VAR_005284
14 HGD p.Asp291Glu VAR_005285 rs754428438
15 HGD p.Val300Gly VAR_005286 rs120074170
16 HGD p.Met368Val VAR_005287 rs120074173
17 HGD p.Arg330Ser VAR_008744 rs120074171
18 HGD p.His371Arg VAR_008745 rs120074172
19 HGD p.Leu25Pro VAR_009618
20 HGD p.Glu168Lys VAR_009619 rs375283568
21 HGD p.Gly270Arg VAR_009620 rs120074174
22 HGD p.Glu3Ala VAR_073076 rs200412910
23 HGD p.Glu13Lys VAR_073077 rs1458752246
24 HGD p.Asp18Asn VAR_073078
25 HGD p.Gln33Arg VAR_073079
26 HGD p.Leu44Phe VAR_073080 rs1049246177
27 HGD p.Arg53Gln VAR_073081 rs200808744
28 HGD p.Leu61Pro VAR_073082 rs1324654414
29 HGD p.Phe73Leu VAR_073083
30 HGD p.Pro92Thr VAR_073084
31 HGD p.Trp97Arg VAR_073085
32 HGD p.Gly115Arg VAR_073086 rs755734596
33 HGD p.Leu116Pro VAR_073087 rs569846003
34 HGD p.Cys120Phe VAR_073088 rs752153829
35 HGD p.Cys120Trp VAR_073089 rs149165166
36 HGD p.Ala122Val VAR_073090 rs544956641
37 HGD p.Gly123Ala VAR_073091 rs374473331
38 HGD p.Gly123Arg VAR_073092 rs564979861
39 HGD p.Leu137Pro VAR_073093
40 HGD p.Gly152Ala VAR_073094 rs1553717936
41 HGD p.Pro158Leu VAR_073095 rs375396766
42 HGD p.Glu168Asp VAR_073096 rs780173554
43 HGD p.Phe169Leu VAR_073097 rs756134838
44 HGD p.Lys171Asn VAR_073098
45 HGD p.Glu178Gly VAR_073100
46 HGD p.Gln183Arg VAR_073101 rs1349543050
47 HGD p.Arg187Gly VAR_073102 rs756255206
48 HGD p.Arg197Gly VAR_073103 rs1414279737
49 HGD p.Gly217Trp VAR_073104
50 HGD p.Asn219Ser VAR_073105

Expression for Alkaptonuria

Search GEO for disease gene expression data for Alkaptonuria.

Pathways for Alkaptonuria

Pathways related to Alkaptonuria according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 ADSL AHCY FAH GSTZ1 HGD HPD
2
Show member pathways
12.58 TYR TAT QDPR PRODH PAH MAT1A
3
Show member pathways
11.53 TAT PRODH FAH
4
Show member pathways
11.07 TAT MAT1A AHCY
5 11.04 MAT1A AHCY
6
Show member pathways
11.01 MAT1A AHCY
7 10.97 MAT1A AHCY
8
Show member pathways
10.78 MAT1A AHCY
9
Show member pathways
10.72 TAT QDPR PAH HPD HGD GSTZ1
10 10.69 TYR PAH
11 10.58 MAT1A AHCY
12
Show member pathways
10.22 QDPR PAH

GO Terms for Alkaptonuria

Biological processes related to Alkaptonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tyrosine catabolic process GO:0006572 9.65 TAT HPD HGD GSTZ1 FAH
2 left/right axis specification GO:0070986 9.62 SMO ARL13B
3 amino acid metabolic process GO:0006520 9.56 TAT QDPR HGD
4 aromatic amino acid metabolic process GO:0009072 9.55 TAT PAH HPD GSTZ1 FAH
5 metabolic process GO:0008152 9.54 PAH GSTZ1 CHIT1
6 L-phenylalanine catabolic process GO:0006559 9.47 TAT QDPR PAH HPD HGD GSTZ1

Molecular functions related to Alkaptonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.35 TAT PAH GSTZ1 FAH ADSL
2 oxidoreductase activity GO:0016491 9.1 TYR QDPR PRODH PAH HPD HGD

Sources for Alkaptonuria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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