AKU
MCID: ALK013
MIFTS: 58

Alkaptonuria (AKU)

Categories: Bone diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alkaptonuria

MalaCards integrated aliases for Alkaptonuria:

Name: Alkaptonuria 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Homogentisic Acid Oxidase Deficiency 57 53 25 59 75
Alcaptonuria 12 24 53 25
Aku 57 53 25 75
Alkaptonuric Ochronosis 53 73
Ochronosis, Hereditary 53 73
Homogentisic Acidura 53 25
Homogentisate 1,2-Dioxygenase Deficiency 12
Deficiency of Homogentisicase 12
Homogentisate 1,2-Dioxygenase 13
Hereditary Ochronosis 59

Characteristics:

Orphanet epidemiological data:

59
alkaptonuria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (France),1-9/100000 (Slovakia); Age of onset: Adult,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
alkaptonuria:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Elevated urinary hga and ochronotic arthritis occur in all individuals who are homozygous or compound heterozygous for pathogenic variants in hgd...

Classifications:



External Ids:

OMIM 57 203500
Disease Ontology 12 DOID:9270
ICD10 33 E70.29
MeSH 44 D000474
NCIt 50 C84546
SNOMED-CT 68 24250001
Orphanet 59 ORPHA56
UMLS via Orphanet 74 C0002066 C2931645
ICD10 via Orphanet 34 E70.2
MESH via Orphanet 45 C537862 D000474
MedGen 42 C0002066
KEGG 37 H00163

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)

MalaCards based summary : Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and inherited metabolic disorder, 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 Tyrosine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Nitisinone and tyrosine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and prostate, and related phenotypes are joint dislocation and osteoarthritis

Disease Ontology : 12 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 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. Ochronosis starts after age 30 and arthritis in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by mutations in the HGD gene. It is inherited in an autosomal recessive fashion. There is still no cure for this disease. Treatment includes the management of joint pain, physical and occupational therapy, joint replacements and surgery when needed.

UniProtKB/Swiss-Prot : 75 Alkaptonuria: 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.

Wikipedia : 76 Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids... 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 71)
# Related Disease Score Top Affiliating Genes
1 ochronosis 32.7 HGD HPD
2 inherited metabolic disorder 11.4
3 exogenous ochronosis 11.1
4 polycystic kidney disease 10.4
5 arthropathy 10.3
6 renal cell carcinoma, nonpapillary 10.2
7 arthritis 10.2
8 aortic valve disease 2 10.2
9 central neurocytoma 10.1
10 prostate calculus 10.1 HGD HPD
11 neuroblastoma 10.0
12 keratopathy 10.0
13 lower urinary tract calculus 10.0 HGD HPD
14 mycosis fungoides 10.0
15 heart disease 10.0
16 astrocytoma 10.0
17 pituitary adenoma 10.0
18 adenoma 10.0
19 cleft lip 10.0
20 arteries, anomalies of 10.0
21 chronic kidney failure 10.0
22 coronary artery anomaly 10.0
23 osteoarthritis 10.0
24 thalassemia 10.0
25 methemoglobinemia 10.0
26 spondyloarthropathy 10.0
27 amyloidosis 10.0
28 tyrosinemia, type iii 9.9 FAH HPD
29 amino acid metabolic disorder 9.9 FAH HGD
30 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 FAH HGD
31 cataract 5, multiple types 9.8
32 immunoglobulin a deficiency 1 9.8
33 hashimoto thyroiditis 9.8
34 gilbert syndrome 9.8
35 tetralogy of fallot 9.8
36 cystinuria 9.8
37 diabetes mellitus, insulin-dependent 9.8
38 megalocornea 9.8
39 pentosuria 9.8
40 phenylketonuria 9.8
41 tyrosinosis 9.8
42 ornithine transcarbamylase deficiency, hyperammonemia due to 9.8
43 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
44 cataract 9.8
45 degenerative disc disease 9.8
46 diabetes mellitus 9.8
47 glomerulonephritis 9.8
48 hepatitis 9.8
49 hepatitis b 9.8
50 renal tubular acidosis 9.8

Graphical network of the top 20 diseases related to Alkaptonuria:



Diseases related to Alkaptonuria

Symptoms & Phenotypes for Alkaptonuria

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
kyphosis
back pain
degeneration of intervertebral disks
fusion of vertebral bodies
decreased lumbar flexion

Skeletal Feet:
thickened achilles tendon

Growth Height:
height loss secondary to spinal changes

Head And Neck Eyes:
pigmentation of the sclera

Genitourinary Kidneys:
urolithiasis

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

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

Genitourinary Internal Genitalia Male:
ochronotic prostate stones

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


Clinical features from OMIM:

203500

Human phenotypes related to Alkaptonuria:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
2 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
3 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
4 arthritis 59 32 Very frequent (99-80%) HP:0001369
5 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
6 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
7 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
8 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
9 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
10 abnormality of the nail 59 32 frequent (33%) Frequent (79-30%) HP:0001597
11 myocardial infarction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001658
12 hearing abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000364
13 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
14 mitral valve calcification 59 32 frequent (33%) Frequent (79-30%) HP:0004382
15 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
16 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
17 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
18 abnormality of the nose 59 32 frequent (33%) Frequent (79-30%) HP:0000366
19 prostatitis 59 32 frequent (33%) Frequent (79-30%) HP:0000024
20 coronary artery calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0001717
21 atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002621
22 aortic valve calcification 59 32 frequent (33%) Frequent (79-30%) HP:0004380
23 thickened achilles tendon 59 32 frequent (33%) Frequent (79-30%) HP:0004690
24 intervertebral disk calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0005645
25 tendon rupture 59 32 frequent (33%) Frequent (79-30%) HP:0100550
26 calcification of cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100593
27 cartilage destruction 59 32 frequent (33%) Frequent (79-30%) HP:0100773
28 kyphosis 32 HP:0002808
29 abnormality of the eye 59 Very frequent (99-80%)
30 abnormality of metabolism/homeostasis 32 HP:0001939
31 abnormality of the heart valves 59 Frequent (79-30%)
32 back pain 32 HP:0003418
33 vertebral fusion 32 HP:0002948
34 abnormality of skin pigmentation 59 Very frequent (99-80%)
35 abnormality of the urinary system 32 HP:0000079
36 abnormality of the ear 32 HP:0000598
37 aortic aneurysm 32 HP:0004942
38 intervertebral disc degeneration 32 HP:0008419
39 arthropathy 32 HP:0003040
40 pigmentation of the sclera 32 HP:0007832
41 growth abnormality 32 HP:0001507

UMLS symptoms related to Alkaptonuria:


back pain

MGI Mouse Phenotypes related to Alkaptonuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 ARL13B FAH GSTZ1 HGD HPD SMO
2 renal/urinary system MP:0005367 9.02 ARL13B FAH GSTZ1 HGD HPD

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,Phase 3 104206-65-7 115355
2 tyrosine Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
2 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
3 Dose Response Study of Nitisinone in Alkaptonuria Completed NCT01828463 Phase 2 Nitisinone
4 Long-Term Study of Nitisinone to Treat Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
5 Study of Alkaptonuria Recruiting NCT00005909

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 29 HGD

Anatomical Context for Alkaptonuria

MalaCards organs/tissues related to Alkaptonuria:

41
Heart, Kidney, Prostate, Skin, Bone, Eye, Liver

Publications for Alkaptonuria

Articles related to Alkaptonuria:

(show top 50) (show all 433)
# Title Authors Year
1
Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. ( 29572623 )
2018
2
Surgical Management in Cervical Spondylotic Myelopathy Due to Alkaptonuria. ( 29510281 )
2018
3
Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project. ( 29852277 )
2018
4
Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features. ( 29654544 )
2018
5
'As Black as Ink"-A Case of Alkaptonuria-Associated Myelopathy and a Review of the Literature. ( 29933333 )
2018
6
Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism. ( 29629736 )
2018
7
How to Measure Tissue Oxygenation Using Near-Infrared Spectroscopy in a Patient With Alkaptonuria. ( 29459112 )
2018
8
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone. ( 29754208 )
2018
9
Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria. ( 29353057 )
2018
10
Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone. ( 30049652 )
2018
11
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. ( 30055994 )
2018
12
Alkaptonuria, a new association of distal renal tubular acidosis. ( 30152443 )
2018
13
Recognition of Alkaptonuria During Mohs Micrographic Surgery. ( 30204737 )
2018
14
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone. ( 30263914 )
2018
15
Collagenous and elastotic marginal plaques of the hand: A potential clue to the diagnosis of alkaptonuria. ( 30294802 )
2018
16
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria. ( 30316064 )
2018
17
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. ( 30341892 )
2018
18
Alkaptonuria-an atypical case: multi-modality imaging review. ( 30406834 )
2018
19
Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria. ( 30412682 )
2018
20
No ochronosis was seen at internal thoracic artery with alkaptonuria. ( 30417683 )
2018
21
Alkaptonuria. ( 30449931 )
2018
22
Musculoskeletal manifestations of alkaptonuria: A case report and literature review. ( 30451653 )
2018
23
Ocular and systemic manifestations of Alkaptonuria. ( 30476261 )
2018
24
Black-Colored Ligamentum Flavum Due to Alkaptonuria. ( 30477028 )
2018
25
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion. ( 28879639 )
2017
26
Asymptomatic Corneal Keratopathy Secondary toA Hypertyrosinaemia Following Low Dose Nitisinone andA aA Literature Review of Tyrosine Keratopathy inA Alkaptonuria. ( 28942493 )
2017
27
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ( 29395825 )
2017
28
Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment. ( 29147990 )
2017
29
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
30
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. ( 28158906 )
2017
31
A rare presentation of alkaptonuria: Extensive prostatic calculi with highlight of stones found in a unique paraprostatic urethral diverticulum. ( 28779694 )
2017
32
ANNALS EXPRESS: The effect of nitisinone on homogentisic acid and tyrosine: A two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. ( 28081634 )
2017
33
Aortic Valve Stenosis in Alkaptonuria. ( 28528068 )
2017
34
Alkaptonuria: A Case Report With Diagnostic Challenge. ( 28813744 )
2017
35
Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria. ( 28869836 )
2017
36
A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease. ( 28192171 )
2017
37
Alkaptonuria: A case report. ( 28643719 )
2017
38
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing. ( 28028161 )
2017
39
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. ( 27074788 )
2016
40
Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka. ( 27382210 )
2016
41
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. ( 26960557 )
2016
42
Alkaptonuric Ochronosis. ( 27734648 )
2016
43
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria. ( 27943071 )
2016
44
Smoothened-Antagonists Reverse Homogentisic Acid-Induced Alterations of Hedgehog Signalling and Primary Cilium Length in Alkaptonuria. ( 28019670 )
2016
45
A Case of Alkaptonuria with Degenerative Collagenous Plaques and Foot Drop. ( 27904192 )
2016
46
Alkaptonuria. ( 27158826 )
2016
47
Mending a Darkened Heart: Alkaptonuria Discovered During Aortic Valve Replacement. ( 27002086 )
2016
48
Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan. ( 28217270 )
2016
49
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? ( 27142149 )
2016
50
Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis. ( 27169295 )
2016

Variations for Alkaptonuria

UniProtKB/Swiss-Prot genetic disease variations for Alkaptonuria:

75 (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
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
24 HGD p.Asp18Asn VAR_073078
25 HGD p.Gln33Arg VAR_073079
26 HGD p.Leu44Phe VAR_073080 rs104924617
27 HGD p.Arg53Gln VAR_073081 rs200808744
28 HGD p.Leu61Pro VAR_073082 rs132465441
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
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
47 HGD p.Arg187Gly VAR_073102
48 HGD p.Arg197Gly VAR_073103
49 HGD p.Gly217Trp VAR_073104
50 HGD p.Asn219Ser VAR_073105

ClinVar genetic disease variations for Alkaptonuria:

6 (show top 50) (show all 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGD NM_000187.3(HGD): c.688C> T (p.Pro230Ser) single nucleotide variant Pathogenic rs28942100 GRCh37 Chromosome 3, 120363252: 120363252
2 HGD NM_000187.3(HGD): c.688C> T (p.Pro230Ser) single nucleotide variant Pathogenic rs28942100 GRCh38 Chromosome 3, 120644405: 120644405
3 HGD NM_000187.3(HGD): c.899T> G (p.Val300Gly) single nucleotide variant Pathogenic/Likely pathogenic rs120074170 GRCh37 Chromosome 3, 120357409: 120357409
4 HGD NM_000187.3(HGD): c.899T> G (p.Val300Gly) single nucleotide variant Pathogenic/Likely pathogenic rs120074170 GRCh38 Chromosome 3, 120638562: 120638562
5 HGD NM_000187.3(HGD): c.990G> T (p.Arg330Ser) single nucleotide variant Pathogenic rs120074171 GRCh37 Chromosome 3, 120357318: 120357318
6 HGD NM_000187.3(HGD): c.990G> T (p.Arg330Ser) single nucleotide variant Pathogenic rs120074171 GRCh38 Chromosome 3, 120638471: 120638471
7 HGD NM_000187.3(HGD): c.481G> A (p.Gly161Arg) single nucleotide variant Pathogenic rs28941783 GRCh37 Chromosome 3, 120365888: 120365888
8 HGD NM_000187.3(HGD): c.481G> A (p.Gly161Arg) single nucleotide variant Pathogenic rs28941783 GRCh38 Chromosome 3, 120647041: 120647041
9 HGD NM_000187.3(HGD): c.457dupG (p.Asp153Glyfs) duplication Pathogenic rs397515346 GRCh37 Chromosome 3, 120366736: 120366736
10 HGD NM_000187.3(HGD): c.457dupG (p.Asp153Glyfs) duplication Pathogenic rs397515346 GRCh38 Chromosome 3, 120647889: 120647889
11 HGD NM_000187.3(HGD): c.16-1G> A single nucleotide variant Pathogenic rs397515347 GRCh37 Chromosome 3, 120394711: 120394711
12 HGD NM_000187.3(HGD): c.16-1G> A single nucleotide variant Pathogenic rs397515347 GRCh38 Chromosome 3, 120675864: 120675864
13 HGD NM_000187.3(HGD): c.175delA (p.Ser59Alafs) deletion Pathogenic rs397515517 GRCh37 Chromosome 3, 120393749: 120393749
14 HGD NM_000187.3(HGD): c.175delA (p.Ser59Alafs) deletion Pathogenic rs397515517 GRCh38 Chromosome 3, 120674902: 120674902
15 HGD NM_000187.3(HGD): c.1112A> G (p.His371Arg) single nucleotide variant Pathogenic rs120074172 GRCh37 Chromosome 3, 120352070: 120352070
16 HGD NM_000187.3(HGD): c.1112A> G (p.His371Arg) single nucleotide variant Pathogenic rs120074172 GRCh38 Chromosome 3, 120633223: 120633223
17 HGD NM_000187.3(HGD): c.1102A> G (p.Met368Val) single nucleotide variant Pathogenic rs120074173 GRCh37 Chromosome 3, 120352080: 120352080
18 HGD NM_000187.3(HGD): c.1102A> G (p.Met368Val) single nucleotide variant Pathogenic rs120074173 GRCh38 Chromosome 3, 120633233: 120633233
19 HGD NM_000187.3(HGD): c.808G> A (p.Gly270Arg) single nucleotide variant Pathogenic rs120074174 GRCh37 Chromosome 3, 120360507: 120360507
20 HGD NM_000187.3(HGD): c.808G> A (p.Gly270Arg) single nucleotide variant Pathogenic rs120074174 GRCh38 Chromosome 3, 120641660: 120641660
21 HGD NM_000187.3(HGD): c.1111dupC (p.His371Profs) duplication Pathogenic rs397515516 GRCh37 Chromosome 3, 120352071: 120352071
22 HGD NM_000187.3(HGD): c.1111dupC (p.His371Profs) duplication Pathogenic rs397515516 GRCh38 Chromosome 3, 120633224: 120633224
23 HGD NM_000187.3(HGD): c.140C> T (p.Ser47Leu) single nucleotide variant Pathogenic rs369517993 GRCh37 Chromosome 3, 120393784: 120393784
24 HGD NM_000187.3(HGD): c.140C> T (p.Ser47Leu) single nucleotide variant Pathogenic rs369517993 GRCh38 Chromosome 3, 120674937: 120674937
25 HGD NM_000187.3(HGD): c.342+1G> A single nucleotide variant Likely pathogenic rs397515518 GRCh37 Chromosome 3, 120371438: 120371438
26 HGD NM_000187.3(HGD): c.342+1G> A single nucleotide variant Likely pathogenic rs397515518 GRCh38 Chromosome 3, 120652591: 120652591
27 HGD NM_000187.3(HGD): c.360T> G (p.Cys120Trp) single nucleotide variant Pathogenic rs149165166 GRCh37 Chromosome 3, 120369695: 120369695
28 HGD NM_000187.3(HGD): c.360T> G (p.Cys120Trp) single nucleotide variant Pathogenic rs149165166 GRCh38 Chromosome 3, 120650848: 120650848
29 HGD NM_000187.3(HGD): c.16-272_87+305del deletion Pathogenic GRCh38 Chromosome 3, 120675487: 120676135
30 HGD NM_000187.3(HGD): c.16-272_87+305del deletion Pathogenic GRCh37 Chromosome 3, 120394334: 120394982
31 HGD NM_000187.3(HGD): c.1336T> C (p.Ter446Arg) single nucleotide variant Likely pathogenic rs143370662 GRCh37 Chromosome 3, 120347229: 120347229
32 HGD NM_000187.3(HGD): c.1336T> C (p.Ter446Arg) single nucleotide variant Likely pathogenic rs143370662 GRCh38 Chromosome 3, 120628382: 120628382
33 HGD NM_000187.3(HGD): c.674G> A (p.Arg225His) single nucleotide variant Likely pathogenic rs562853291 GRCh37 Chromosome 3, 120363266: 120363266
34 HGD NM_000187.3(HGD): c.674G> A (p.Arg225His) single nucleotide variant Likely pathogenic rs562853291 GRCh38 Chromosome 3, 120644419: 120644419
35 HGD NM_000187.3(HGD): c.652delG (p.Ala218Profs) deletion Likely pathogenic rs786204662 GRCh38 Chromosome 3, 120644441: 120644441
36 HGD NM_000187.3(HGD): c.652delG (p.Ala218Profs) deletion Likely pathogenic rs786204662 GRCh37 Chromosome 3, 120363288: 120363288
37 HGD NM_000187.3(HGD): c.365C> T (p.Ala122Val) single nucleotide variant Likely pathogenic rs544956641 GRCh38 Chromosome 3, 120650843: 120650843
38 HGD NM_000187.3(HGD): c.365C> T (p.Ala122Val) single nucleotide variant Likely pathogenic rs544956641 GRCh37 Chromosome 3, 120369690: 120369690
39 HGD NM_000187.3(HGD): c.342+1G> T single nucleotide variant Likely pathogenic rs397515518 GRCh37 Chromosome 3, 120371438: 120371438
40 HGD NM_000187.3(HGD): c.342+1G> T single nucleotide variant Likely pathogenic rs397515518 GRCh38 Chromosome 3, 120652591: 120652591
41 HGD NM_000187.3(HGD): c.11T> A (p.Leu4Ter) single nucleotide variant Likely pathogenic rs786204422 GRCh38 Chromosome 3, 120682101: 120682101
42 HGD NM_000187.3(HGD): c.11T> A (p.Leu4Ter) single nucleotide variant Likely pathogenic rs786204422 GRCh37 Chromosome 3, 120400948: 120400948
43 HGD NM_000187.3(HGD): c.240A> T (p.Gln80His) single nucleotide variant Benign rs2255543 GRCh37 Chromosome 3, 120389316: 120389316
44 HGD NM_000187.3(HGD): c.240A> T (p.Gln80His) single nucleotide variant Benign rs2255543 GRCh38 Chromosome 3, 120670469: 120670469
45 HGD NM_000187.3(HGD): c.1191A> C (p.Ala397=) single nucleotide variant Likely benign rs137923025 GRCh38 Chromosome 3, 120628527: 120628527
46 HGD NM_000187.3(HGD): c.1191A> C (p.Ala397=) single nucleotide variant Likely benign rs137923025 GRCh37 Chromosome 3, 120347374: 120347374
47 HGD NM_000187.3(HGD): c.920G> A (p.Arg307His) single nucleotide variant Uncertain significance rs752719362 GRCh38 Chromosome 3, 120638541: 120638541
48 HGD NM_000187.3(HGD): c.920G> A (p.Arg307His) single nucleotide variant Uncertain significance rs752719362 GRCh37 Chromosome 3, 120357388: 120357388
49 HGD NM_000187.3(HGD): c.550-14G> C single nucleotide variant Uncertain significance rs769000073 GRCh38 Chromosome 3, 120646380: 120646380
50 HGD NM_000187.3(HGD): c.550-14G> C single nucleotide variant Uncertain significance rs769000073 GRCh37 Chromosome 3, 120365227: 120365227

Expression for Alkaptonuria

Search GEO for disease gene expression data for Alkaptonuria.

Pathways for Alkaptonuria

Pathways related to Alkaptonuria according to KEGG:

37
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350

GO Terms for Alkaptonuria

Cellular components related to Alkaptonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.02 DCXR FAH HGD HPD SMO
2 ciliary membrane GO:0060170 8.96 ARL13B SMO

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 DCXR HGD HPD
2 determination of left/right symmetry GO:0007368 9.43 ARL13B SMO
3 smoothened signaling pathway GO:0007224 9.4 ARL13B SMO
4 heart looping GO:0001947 9.37 ARL13B SMO
5 aromatic amino acid family metabolic process GO:0009072 9.33 FAH GSTZ1 HPD
6 dorsal/ventral pattern formation GO:0009953 9.32 ARL13B SMO
7 left/right axis specification GO:0070986 9.26 ARL13B SMO
8 L-phenylalanine catabolic process GO:0006559 9.26 FAH GSTZ1 HGD HPD
9 tyrosine catabolic process GO:0006572 8.92 FAH GSTZ1 HGD HPD

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.13 DCXR HGD HPD
2 dioxygenase activity GO:0051213 8.62 HGD HPD

Sources for Alkaptonuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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