MCID: ALK013
MIFTS: 56

Alkaptonuria

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

Aliases & Classifications for Alkaptonuria

MalaCards integrated aliases for Alkaptonuria:

Name: Alkaptonuria 53 12 72 72 23 49 24 55 71 36 28 13 51 41 14 69
Homogentisic Acid Oxidase Deficiency 53 49 24 55 71
Alcaptonuria 12 23 49 24
Aku 53 49 24 71
Alkaptonuric Ochronosis 49 69
Ochronosis, Hereditary 49 69
Homogentisic Acidura 49 24
Homogentisate 1,2-Dioxygenase Deficiency 12
Deficiency of Homogentisicase 12
Homogentisate 1,2-Dioxygenase 13
Hereditary Ochronosis 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
alkaptonuria:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Elevated urinary hga and ochronotic arthritis occur in all individuals who are homozygous or compound heterozygous for pathogenic variants in hgd...

Classifications:



Summaries for Alkaptonuria

NIH Rare Diseases : 49 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. Last updated: 3/18/2016

MalaCards based summary : Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and exogenous ochronosis, and has symptoms including arthralgia, joint swelling and joint stiffness. 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 prostate, skin and heart.

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

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

GeneReviews: NBK1454

Related Diseases for Alkaptonuria

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 ochronosis 32.4 HGD HPD
2 exogenous ochronosis 10.9
3 aging 10.1
4 prostate calculus 10.1 HGD HPD
5 arthropathy 10.1
6 aortic valve disease 2 10.0
7 lower urinary tract calculus 10.0 HGD HPD
8 episodic pain syndrome, familial, 1 10.0
9 arthritis 9.9
10 keratopathy 9.9
11 prostatitis 9.9
12 central neurocytoma 9.9
13 dowling-degos disease 1 9.8
14 spondyloarthropathy 9.8
15 amyloidosis 9.8
16 back pain 9.8
17 tyrosinemia, type iii 9.7 FAH HPD
18 hypercalcemia, infantile, 1 9.7
19 cystinuria 9.7
20 hyperparathyroidism, neonatal severe 9.7
21 neuroblastoma 9.7
22 pentosuria 9.7
23 phenylketonuria 9.7
24 tyrosinosis 9.7
25 ornithine transcarbamylase deficiency, hyperammonemia due to 9.7
26 osteoarthritis with mild chondrodysplasia 9.7
27 cohen-gibson syndrome 9.7
28 chronic kidney failure 9.7
29 hepatitis 9.7
30 hepatitis b 9.7
31 osteoarthritis 9.7
32 familial hypocalciuric hypercalcemia 9.7
33 methemoglobinemia 9.7
34 primary hyperparathyroidism 9.7
35 nephrocalcinosis 9.7
36 uveitis 9.7
37 gout 9.7
38 urethritis 9.7
39 hyperparathyroidism 9.7
40 spondylosis 9.7
41 mediastinitis 9.7
42 urethral diverticulum 9.7
43 albinism 9.7
44 anterior uveitis 9.7
45 streptococcal group a invasive disease 9.7
46 foot drop 9.7
47 acquired methemoglobinemia 9.7
48 tyrosinemia, type i 9.6 FAH HPD
49 amino acid metabolic disorder 9.6 FAH HGD
50 tyrosinemia 9.4 FAH HPD

Graphical network of the top 20 diseases related to Alkaptonuria:



Diseases related to Alkaptonuria

Symptoms & Phenotypes for Alkaptonuria

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
back pain
kyphosis
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:

55 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 joint swelling 55 31 hallmark (90%) Very frequent (99-80%) HP:0001386
3 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 joint dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001373
5 osteoarthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002758
6 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
7 arthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001369
8 aminoaciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003355
9 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000504
10 abnormality of the nail 55 31 frequent (33%) Frequent (79-30%) HP:0001597
11 myocardial infarction 55 31 occasional (7.5%) Occasional (29-5%) HP:0001658
12 hearing abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000364
13 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349
14 mitral valve calcification 55 31 frequent (33%) Frequent (79-30%) HP:0004382
15 irregular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007400
16 nephrolithiasis 55 31 frequent (33%) Frequent (79-30%) HP:0000787
17 blue sclerae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000592
18 abnormality of the nose 55 31 frequent (33%) Frequent (79-30%) HP:0000366
19 prostatitis 55 31 frequent (33%) Frequent (79-30%) HP:0000024
20 coronary artery calcification 55 31 hallmark (90%) Very frequent (99-80%) HP:0001717
21 atherosclerosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002621
22 aortic valve calcification 55 31 frequent (33%) Frequent (79-30%) HP:0004380
23 thickened achilles tendon 55 31 frequent (33%) Frequent (79-30%) HP:0004690
24 intervertebral disk calcification 55 31 hallmark (90%) Very frequent (99-80%) HP:0005645
25 tendon rupture 55 31 frequent (33%) Frequent (79-30%) HP:0100550
26 calcification of cartilage 55 31 hallmark (90%) Very frequent (99-80%) HP:0100593
27 cartilage destruction 55 31 frequent (33%) Frequent (79-30%) HP:0100773
28 back pain 31 HP:0003418
29 kyphosis 31 HP:0002808
30 abnormality of the eye 55 Very frequent (99-80%)
31 abnormality of metabolism/homeostasis 31 HP:0001939
32 abnormality of the heart valves 55 Frequent (79-30%)
33 vertebral fusion 31 HP:0002948
34 abnormality of skin pigmentation 55 Very frequent (99-80%)
35 abnormality of the urinary system 31 HP:0000079
36 abnormality of the ear 31 HP:0000598
37 aortic aneurysm 31 HP:0004942
38 intervertebral disc degeneration 31 HP:0008419
39 arthropathy 31 HP:0003040
40 pigmentation of the sclera 31 HP:0007832
41 growth abnormality 31 HP:0001507

UMLS symptoms related to Alkaptonuria:


back pain

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
2 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Active, not recruiting NCT01390077 Phase 2, 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 28 HGD

Anatomical Context for Alkaptonuria

MalaCards organs/tissues related to Alkaptonuria:

38
Prostate, Skin, Heart, Kidney, Eye, Bone, Liver

Publications for Alkaptonuria

Articles related to Alkaptonuria:

(show top 50) (show all 206)
# Title Authors Year
1
Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria. ( 29353057 )
2018
2
Aortic Valve Stenosis in Alkaptonuria. ( 28528068 )
2017
3
A rare presentation of alkaptonuria: Extensive prostatic calculi with highlight of stones found in a unique paraprostatic urethral diverticulum. ( 28779694 )
2017
4
Asymptomatic Corneal Keratopathy Secondary toA Hypertyrosinaemia Following Low Dose Nitisinone andA aA Literature Review of Tyrosine Keratopathy inA Alkaptonuria. ( 28942493 )
2017
5
Alkaptonuria: A case report. ( 28643719 )
2017
6
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ( 29395825 )
2017
7
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
8
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
9
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
10
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
11
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
12
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing. ( 28028161 )
2017
13
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. ( 28158906 )
2017
14
Alkaptonuria: A Case Report With Diagnostic Challenge. ( 28813744 )
2017
15
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion. ( 28879639 )
2017
16
Alkaptonuria. ( 27158826 )
2016
17
Bronchoscopic Findings in a Patient With Alkaptonuria: Black Bronchoscopy. ( 27623417 )
2016
18
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? ( 27142149 )
2016
19
Smoothened-Antagonists Reverse Homogentisic Acid-Induced Alterations of Hedgehog Signalling and Primary Cilium Length in Alkaptonuria. ( 28019670 )
2016
20
Alkaptonuria: a disease with dark brown urine. ( 27026014 )
2016
21
Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka. ( 27382210 )
2016
22
Alkaptonuric Ochronosis. ( 27734648 )
2016
23
Acute fatal metabolic complications in alkaptonuria. ( 26596578 )
2016
24
Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan. ( 28217270 )
2016
25
Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis. ( 27169295 )
2016
26
Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders. ( 26891864 )
2016
27
Difficult epidural in a patient with undiagnosed alkaptonuria. ( 27512176 )
2016
28
Mending a Darkened Heart: Alkaptonuria Discovered During Aortic Valve Replacement. ( 27002086 )
2016
29
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. ( 26960557 )
2016
30
Minocycline-induced Cartilage Hyperpigmentation Mimicking Alkaptonuria in a Patient with Knee Pain. ( 27037242 )
2016
31
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria. ( 27943071 )
2016
32
Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress. ( 27590860 )
2016
33
Mitral and aortic valve stenosis in alkaptonuria. ( 26823449 )
2016
34
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. ( 27074788 )
2016
35
Alkaptonuric Ochronosis. ( 27816602 )
2016
36
A Case of Alkaptonuria with Degenerative Collagenous Plaques and Foot Drop. ( 27904192 )
2016
37
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria. ( 26947423 )
2016
38
Angiogenesis in alkaptonuria. ( 27671890 )
2016
39
Spontaneous Achilles tendon rupture in alkaptonuria. ( 26620992 )
2015
40
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry. ( 25628464 )
2015
41
What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints? Lessons from a rare disease. ( 26712212 )
2015
42
Alkaptonuria in a 6 Year Old Patient: Case Report. ( 26793547 )
2015
43
Alkaptonuric ochronosis. ( 26929770 )
2015
44
Progress in Alkaptonuria--are we near to an effective therapy? ( 26280757 )
2015
45
Detection of alkaptonuria in a 1-week-old infant. ( 25956497 )
2015
46
Oxidative stress and mechanisms of ochronosis in alkaptonuria. ( 25733348 )
2015
47
Back pain in a middle-aged man: alkaptonuria. ( 25768073 )
2015
48
Age-Related Deviation of Gait from Normality in Alkaptonuria. ( 25786642 )
2015
49
Alkaptonuria and ochronotic spondyloarthropathy: a delayed imaging diagnosis. ( 26454244 )
2015
50
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria. ( 25772318 )
2015

Variations for Alkaptonuria

UniProtKB/Swiss-Prot genetic disease variations for Alkaptonuria:

71 (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 rs1049246177Alkaptonuria
27 HGD p.Arg53Gln VAR_073081 rs200808744
28 HGD p.Leu61Pro VAR_073082
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 all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGD NM_000187.3(HGD): c.1111dupC (p.His371Profs) duplication Pathogenic rs397515516 GRCh37 Chromosome 3, 120352071: 120352071
2 HGD NM_000187.3(HGD): c.140C> T (p.Ser47Leu) single nucleotide variant Pathogenic rs369517993 GRCh37 Chromosome 3, 120393784: 120393784
3 HGD NM_000187.3(HGD): c.342+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515518 GRCh37 Chromosome 3, 120371438: 120371438
4 HGD NM_000187.3(HGD): c.360T> G (p.Cys120Trp) single nucleotide variant Pathogenic rs149165166 GRCh37 Chromosome 3, 120369695: 120369695
5 HGD NM_000187.3(HGD): c.16-272_87+305del deletion Pathogenic GRCh38 Chromosome 3, 120675487: 120676135
6 HGD NM_000187.3(HGD): c.652delG (p.Ala218Profs) deletion Likely pathogenic rs786204662 GRCh38 Chromosome 3, 120644441: 120644441
7 HGD NM_000187.3(HGD): c.1336T> C (p.Ter446Arg) single nucleotide variant Likely pathogenic rs143370662 GRCh37 Chromosome 3, 120347229: 120347229
8 HGD NM_000187.3(HGD): c.674G> A (p.Arg225His) single nucleotide variant Likely pathogenic rs562853291 GRCh37 Chromosome 3, 120363266: 120363266
9 HGD NM_000187.3(HGD): c.365C> T (p.Ala122Val) single nucleotide variant Likely pathogenic rs544956641 GRCh37 Chromosome 3, 120369690: 120369690
10 HGD NM_000187.3(HGD): c.342+1G> T single nucleotide variant Likely pathogenic rs397515518 GRCh37 Chromosome 3, 120371438: 120371438
11 HGD NM_000187.3(HGD): c.11T> A (p.Leu4Ter) single nucleotide variant Likely pathogenic rs786204422 GRCh37 Chromosome 3, 120400948: 120400948
12 HGD NM_000187.3(HGD): c.688C> T (p.Pro230Ser) single nucleotide variant Pathogenic rs28942100 GRCh37 Chromosome 3, 120363252: 120363252
13 HGD NM_000187.3(HGD): c.899T> G (p.Val300Gly) single nucleotide variant Pathogenic/Likely pathogenic rs120074170 GRCh37 Chromosome 3, 120357409: 120357409
14 HGD NM_000187.3(HGD): c.990G> T (p.Arg330Ser) single nucleotide variant Pathogenic rs120074171 GRCh37 Chromosome 3, 120357318: 120357318
15 HGD NM_000187.3(HGD): c.481G> A (p.Gly161Arg) single nucleotide variant Pathogenic rs28941783 GRCh37 Chromosome 3, 120365888: 120365888
16 HGD NM_000187.3(HGD): c.457dupG (p.Asp153Glyfs) duplication Pathogenic rs397515346 GRCh37 Chromosome 3, 120366736: 120366736
17 HGD NM_000187.3(HGD): c.16-1G> A single nucleotide variant Pathogenic rs397515347 GRCh37 Chromosome 3, 120394711: 120394711
18 HGD NM_000187.3(HGD): c.175delA (p.Ser59Alafs) deletion Pathogenic rs397515517 GRCh37 Chromosome 3, 120393749: 120393749
19 HGD NM_000187.3(HGD): c.1112A> G (p.His371Arg) single nucleotide variant Pathogenic rs120074172 GRCh37 Chromosome 3, 120352070: 120352070
20 HGD NM_000187.3(HGD): c.1102A> G (p.Met368Val) single nucleotide variant Pathogenic rs120074173 GRCh37 Chromosome 3, 120352080: 120352080
21 HGD NM_000187.3(HGD): c.808G> A (p.Gly270Arg) single nucleotide variant Pathogenic rs120074174 GRCh37 Chromosome 3, 120360507: 120360507
22 HGD NM_000187.3(HGD): c.1201G> C (p.Glu401Gln) single nucleotide variant Likely pathogenic rs767159114 GRCh38 Chromosome 3, 120628517: 120628517
23 HGD NM_000187.3(HGD): c.1188+1G> T single nucleotide variant Likely pathogenic rs760206323 GRCh38 Chromosome 3, 120633146: 120633146
24 HGD NM_000187.3(HGD): c.1064dupG (p.Gly356Trpfs) duplication Likely pathogenic rs1057516847 GRCh38 Chromosome 3, 120633271: 120633271
25 HGD NM_000187.3(HGD): c.1017_1019delGAGinsTA (p.Met339Ilefs) indel Pathogenic rs1057517081 GRCh38 Chromosome 3, 120633316: 120633318
26 HGD NM_000187.3(HGD): c.970dupG (p.Val324Glyfs) duplication Likely pathogenic rs1057517371 GRCh37 Chromosome 3, 120357338: 120357338
27 HGD NM_000187.3(HGD): c.956delC (p.Pro319Hisfs) deletion Likely pathogenic rs1057517089 GRCh37 Chromosome 3, 120357352: 120357352
28 HGD NM_000187.3(HGD): c.781dupT (p.Ser261Phefs) duplication Likely pathogenic rs1057517418 GRCh38 Chromosome 3, 120641687: 120641687
29 HGD NM_000187.3(HGD): c.649+2T> C single nucleotide variant Likely pathogenic rs1057516307 GRCh38 Chromosome 3, 120646265: 120646265
30 HGD NM_000187.3(HGD): c.409delC (p.Leu137Serfs) deletion Likely pathogenic rs1057516921 GRCh38 Chromosome 3, 120650799: 120650799
31 HGD NM_000187.3(HGD): c.390delG (p.Ala132Leufs) deletion Likely pathogenic rs1057516352 GRCh38 Chromosome 3, 120650818: 120650818
32 HGD NM_000187.3(HGD): c.376_377delAA (p.Lys126Valfs) deletion Likely pathogenic rs1057516976 GRCh38 Chromosome 3, 120650831: 120650832
33 HGD NM_000187.3(HGD): c.346delC (p.Leu116Cysfs) deletion Likely pathogenic rs1057516911 GRCh37 Chromosome 3, 120369709: 120369709
34 HGD NM_000187.3(HGD): c.339_342+2del6 deletion Likely pathogenic rs1057516662 GRCh38 Chromosome 3, 120652590: 120652595
35 HGD NM_000187.3(HGD): c.179G> A (p.Trp60Ter) single nucleotide variant Likely pathogenic rs1057516467 GRCh38 Chromosome 3, 120670530: 120670530
36 HGD NM_000187.3(HGD): c.177-1G> A single nucleotide variant Likely pathogenic rs1057517370 GRCh37 Chromosome 3, 120389380: 120389380
37 HGD NM_000187.3(HGD): c.158G> A (p.Arg53Gln) single nucleotide variant Likely pathogenic rs200808744 GRCh38 Chromosome 3, 120674919: 120674919
38 HGD NM_000187.3(HGD): c.58delC (p.Arg20Alafs) deletion Likely pathogenic rs1057516849 GRCh37 Chromosome 3, 120394668: 120394668
39 HGD NM_000187.3(HGD): c.31_32delGGinsATT (p.Gly11Ilefs) indel Likely pathogenic rs1057516362 GRCh38 Chromosome 3, 120675847: 120675848
40 HGD NM_000187.3(HGD): c.15+1G> A single nucleotide variant Likely pathogenic rs552207335 GRCh38 Chromosome 3, 120682096: 120682096
41 HGD NM_000187.3(HGD): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1057516355 GRCh38 Chromosome 3, 120682109: 120682109
42 HGD NM_000187.3(HGD): c.189G> T (p.Arg63Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 120389367: 120389367

Expression for Alkaptonuria

Search GEO for disease gene expression data for Alkaptonuria.

Pathways for Alkaptonuria

Pathways related to Alkaptonuria according to KEGG:

36
# 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 9.35 DCXR FAH HGD HPD SMO
2 ciliary membrane GO:0060170 8.62 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 dorsal/ventral pattern formation GO:0009953 9.32 ARL13B SMO
6 left/right axis specification GO:0070986 9.26 ARL13B SMO
7 aromatic amino acid family metabolic process GO:0009072 9.16 FAH HPD
8 L-phenylalanine catabolic process GO:0006559 9.13 FAH HGD HPD
9 tyrosine catabolic process GO:0006572 8.8 FAH 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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