AKU
MCID: ALK013
MIFTS: 57

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 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Homogentisic Acid Oxidase Deficiency 58 54 26 60 76
Alcaptonuria 12 25 54 26
Aku 58 54 26 76
Alkaptonuric Ochronosis 54 74
Ochronosis, Hereditary 54 74
Homogentisic Acidura 54 26
Homogentisate 1,2-Dioxygenase Deficiency 12
Deficiency of Homogentisicase 12
Homogentisate 1,2-Dioxygenase 13
Hereditary Ochronosis 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
alkaptonuria:
Inheritance autosomal recessive inheritance


GeneReviews:

25
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:

Disease Ontology 12 DOID:9270
OMIM 58 203500
KEGG 38 H00163
MeSH 45 D000474
NCIt 51 C84546
SNOMED-CT 69 24250001
ICD10 34 E70.29
MESH via Orphanet 46 C537862 D000474
ICD10 via Orphanet 35 E70.2
UMLS via Orphanet 75 C0002066 C2931645
Orphanet 60 ORPHA56
MedGen 43 C0002066

Summaries for Alkaptonuria

OMIM : 58 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 kidney, heart 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 : 26 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 : 54 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 : 76 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 : 77 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 74)
# Related Disease Score Top Affiliating Genes
1 ochronosis 32.8 HGD HPD
2 inherited metabolic disorder 11.5
3 exogenous ochronosis 11.1
4 polycystic kidney disease 10.5
5 joint disorders 10.3
6 arthropathy 10.3
7 renal cell carcinoma, nonpapillary 10.3
8 arthritis 10.2
9 aortic valve disease 2 10.2
10 central neurocytoma 10.1
11 keratopathy 10.1
12 prostate calculus 10.0 HGD HPD
13 arteries, anomalies of 10.0
14 chronic kidney failure 10.0
15 coronary artery anomaly 10.0
16 osteoarthritis 10.0
17 thalassemia 10.0
18 methemoglobinemia 10.0
19 spondyloarthropathy 10.0
20 amyloidosis 10.0
21 mycosis fungoides 10.0
22 heart valve disease 10.0
23 heart disease 10.0
24 astrocytoma 10.0
25 pituitary adenoma 10.0
26 adenoma 10.0
27 cleft lip 10.0
28 lower urinary tract calculus 10.0 HGD HPD
29 cataract 5, multiple types 9.8
30 multiple sclerosis 9.8
31 immunoglobulin a deficiency 1 9.8
32 gilbert syndrome 9.8
33 hypocalciuric hypercalcemia, familial, type i 9.8
34 tetralogy of fallot 9.8
35 cystinuria 9.8
36 hyperparathyroidism, neonatal severe 9.8
37 megalocornea 9.8
38 pentosuria 9.8
39 phenylketonuria 9.8
40 tyrosinosis 9.8
41 ornithine transcarbamylase deficiency, hyperammonemia due to 9.8
42 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
43 cataract 9.8
44 degenerative disc disease 9.8
45 diabetes mellitus 9.8
46 glomerulonephritis 9.8
47 hepatitis 9.8
48 hepatitis b 9.8
49 renal tubular acidosis 9.8
50 familial hypocalciuric hypercalcemia 9.8

Graphical network of the top 20 diseases related to Alkaptonuria:



Diseases related to Alkaptonuria

Symptoms & Phenotypes for Alkaptonuria

Human phenotypes related to Alkaptonuria:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001373
2 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
3 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
4 aminoaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003355
5 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
6 joint swelling 60 33 hallmark (90%) Very frequent (99-80%) HP:0001386
7 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
8 hearing abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000364
9 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
10 blue sclerae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000592
11 coronary artery calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0001717
12 intervertebral disk calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0005645
13 calcification of cartilage 60 33 hallmark (90%) Very frequent (99-80%) HP:0100593
14 abnormality of the nail 60 33 frequent (33%) Frequent (79-30%) HP:0001597
15 mitral valve calcification 60 33 frequent (33%) Frequent (79-30%) HP:0004382
16 nephrolithiasis 60 33 frequent (33%) Frequent (79-30%) HP:0000787
17 abnormality of the nose 60 33 frequent (33%) Frequent (79-30%) HP:0000366
18 prostatitis 60 33 frequent (33%) Frequent (79-30%) HP:0000024
19 aortic valve calcification 60 33 frequent (33%) Frequent (79-30%) HP:0004380
20 thickened achilles tendon 60 33 frequent (33%) Frequent (79-30%) HP:0004690
21 tendon rupture 60 33 frequent (33%) Frequent (79-30%) HP:0100550
22 cartilage destruction 60 33 frequent (33%) Frequent (79-30%) HP:0100773
23 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
24 myocardial infarction 60 33 occasional (7.5%) Occasional (29-5%) HP:0001658
25 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
26 atherosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002621
27 arthritis 60 33 Very frequent (99-80%) HP:0001369
28 kyphosis 33 HP:0002808
29 abnormality of the eye 60 Very frequent (99-80%)
30 abnormality of metabolism/homeostasis 33 HP:0001939
31 abnormality of the heart valves 60 Frequent (79-30%)
32 back pain 33 HP:0003418
33 vertebral fusion 33 HP:0002948
34 abnormality of skin pigmentation 60 Very frequent (99-80%)
35 abnormality of the urinary system 33 HP:0000079
36 aortic aneurysm 33 HP:0004942
37 abnormality of the ear 33 HP:0000598
38 intervertebral disc degeneration 33 HP:0008419
39 arthropathy 33 HP:0003040
40 pigmentation of the sclera 33 HP:0007832
41 growth abnormality 33 HP:0001507

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Alkaptonuria:


back pain

MGI Mouse Phenotypes related to Alkaptonuria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.55 ARL13B FAH GSTZ1 HGD SMO
2 homeostasis/metabolism MP:0005376 9.43 ARL13B FAH GSTZ1 HGD HPD SMO
3 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 Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057

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 30 HGD

Anatomical Context for Alkaptonuria

MalaCards organs/tissues related to Alkaptonuria:

42
Kidney, Heart, Prostate, Skin, Bone, Eye, Liver

Publications for Alkaptonuria

Articles related to Alkaptonuria:

(show top 50) (show all 438)
# Title Authors Year
1
A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria. ( 30782595 )
2019
2
Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria. ( 31019628 )
2019
3
A Mistaken Identity-Alkaptonuria. ( 31022057 )
2019
4
Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging. ( 31037385 )
2019
5
Correction to: Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging. ( 31104147 )
2019
6
"As Black as Ink": A Case of Alkaptonuria-Associated Myelopathy and a Review of the Literature. ( 29933333 )
2019
7
Collagenous and elastotic marginal plaques of the hand: A potential clue to the diagnosis of alkaptonuria. ( 30294802 )
2019
8
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. ( 30341892 )
2019
9
Alkaptonuria-an atypical case: multi-modality imaging review. ( 30406834 )
2019
10
Ocular and systemic manifestations of alkaptonuria. ( 30476261 )
2019
11
Black-Colored Ligamentum Flavum Due to Alkaptonuria. ( 30477028 )
2019
12
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion. ( 28879639 )
2018
13
Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria. ( 28942493 )
2018
14
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 )
2018
15
Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria. ( 29353057 )
2018
16
How to Measure Tissue Oxygenation Using Near-Infrared Spectroscopy in a Patient With Alkaptonuria. ( 29459112 )
2018
17
Surgical Management in Cervical Spondylotic Myelopathy Due to Alkaptonuria. ( 29510281 )
2018
18
Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. ( 29572623 )
2018
19
Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism. ( 29629736 )
2018
20
Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features. ( 29654544 )
2018
21
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone. ( 29754208 )
2018
22
Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project. ( 29852277 )
2018
23
Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone. ( 30049652 )
2018
24
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
25
Alkaptonuria, a new association of distal renal tubular acidosis. ( 30152443 )
2018
26
Recognition of Alkaptonuria During Mohs Micrographic Surgery. ( 30204737 )
2018
27
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
28
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria. ( 30316064 )
2018
29
Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria. ( 30412682 )
2018
30
No ochronosis was seen at internal thoracic artery with alkaptonuria. ( 30417683 )
2018
31
Alkaptonuria. ( 30449931 )
2018
32
Musculoskeletal manifestations of alkaptonuria: A case report and literature review. ( 30451653 )
2018
33
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ( 29395825 )
2018
34
Mitral and aortic valve stenosis in alkaptonuria. ( 26823449 )
2017
35
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. ( 27074788 )
2017
36
Bronchoscopic Findings in a Patient With Alkaptonuria: Black Bronchoscopy. ( 27623417 )
2017
37
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria. ( 27943071 )
2017
38
Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria. ( 28019670 )
2017
39
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing. ( 28028161 )
2017
40
The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. ( 28081634 )
2017
41
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. ( 28158906 )
2017
42
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
43
Aortic Valve Stenosis in Alkaptonuria. ( 28528068 )
2017
44
Alkaptonuria: A case report. ( 28643719 )
2017
45
A rare presentation of alkaptonuria: Extensive prostatic calculi with highlight of stones found in a unique paraprostatic urethral diverticulum. ( 28779694 )
2017
46
Alkaptonuria: A Case Report With Diagnostic Challenge. ( 28813744 )
2017
47
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
48
Alkaptonuric Ochronosis. ( 27816602 )
2017
49
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
50
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. ( 25475116 )
2016

Variations for Alkaptonuria

UniProtKB/Swiss-Prot genetic disease variations for Alkaptonuria:

76 (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 rs117458485
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 rs145875224
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 rs134954305
47 HGD p.Arg187Gly VAR_073102
48 HGD p.Arg197Gly VAR_073103 rs141427973
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.342+1G> A single nucleotide variant Likely pathogenic rs397515518 GRCh38 Chromosome 3, 120652591: 120652591
22 HGD NM_000187.3(HGD): c.1111dupC (p.His371Profs) duplication Pathogenic rs397515516 GRCh37 Chromosome 3, 120352071: 120352071
23 HGD NM_000187.3(HGD): c.1111dupC (p.His371Profs) duplication Pathogenic rs397515516 GRCh38 Chromosome 3, 120633224: 120633224
24 HGD NM_000187.3(HGD): c.140C> T (p.Ser47Leu) single nucleotide variant Pathogenic rs369517993 GRCh37 Chromosome 3, 120393784: 120393784
25 HGD NM_000187.3(HGD): c.140C> T (p.Ser47Leu) single nucleotide variant Pathogenic rs369517993 GRCh38 Chromosome 3, 120674937: 120674937
26 HGD NM_000187.3(HGD): c.342+1G> A single nucleotide variant Likely pathogenic rs397515518 GRCh37 Chromosome 3, 120371438: 120371438
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 rs1553721650 GRCh38 Chromosome 3, 120675487: 120676135
30 HGD NM_000187.3(HGD): c.16-272_87+305del deletion Pathogenic rs1553721650 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:

38
# 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 9.26 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 determination of left/right symmetry GO:0007368 9.43 ARL13B SMO
2 smoothened signaling pathway GO:0007224 9.4 ARL13B SMO
3 heart looping GO:0001947 9.37 ARL13B SMO
4 aromatic amino acid family metabolic process GO:0009072 9.33 FAH GSTZ1 HPD
5 dorsal/ventral pattern formation GO:0009953 9.32 ARL13B SMO
6 left/right axis specification GO:0070986 9.26 ARL13B SMO
7 L-phenylalanine catabolic process GO:0006559 9.26 FAH GSTZ1 HGD HPD
8 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 dioxygenase activity GO:0051213 8.62 HGD HPD

Sources for Alkaptonuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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