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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hartnup disease
  

Disease ID 350
Disease hartnup disease
Definition
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Synonym
aa transport dis neutral
amino acid transport disorder, neutral
deficiency of tryptophan 2,3-dioxygenase
deficiency of tryptophan 2,3-dioxygenase (disorder)
deficiency of tryptophan oxygenase
deficiency of tryptophan pyrrolase
disease hartnup
disease hartnups
h disease
hart syndrome
hartnup dis
hartnup disease [disease/finding]
hartnup disorder
hnd
neutral 1 amino acid transport defect
neutral 1 amino acid transport defect (disorder)
neutral aa transport defect
neutral aa transport dis
neutral amino acid transport defect
neutral amino acid transport disorder
pellagra-cerebellar ataxia-renal aminoaciduria syndrome
transport dis neutral aa
transport dis neutral amino acids
transport disorder, neutral amino acid
transport disorder, neutral amino acids
tryptophan pyrrolase deficiency
Orphanet
OMIM
DOID
UMLS
C0018609
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:327)
C0003873  |  rheumatoid arthritis  |  33
C0003864  |  arthritis  |  23
C0011847  |  diabetes  |  14
C0006142  |  breast cancer  |  14
C0026769  |  multiple sclerosis  |  13
C0409974  |  lupus erythematosus  |  11
C0024141  |  systemic lupus erythematosus  |  11
C0007131  |  nsclc  |  9
C0442874  |  neuropathy  |  9
C0025202  |  melanoma  |  8
C0376358  |  prostate cancer  |  7
C0028754  |  obesity  |  7
C0021390  |  inflammatory bowel disease  |  6
C0024530  |  malaria  |  6
C0002871  |  anemia  |  6
C0021831  |  bowel disease  |  6
C0027765  |  neurological disease  |  6
C0041296  |  tuberculosis  |  5
C0005684  |  bladder cancer  |  5
C0020538  |  hypertension  |  5
C0004096  |  asthma  |  5
C0497327  |  dementia  |  4
C0036421  |  systemic sclerosis  |  4
C0003467  |  anxiety  |  4
C0014038  |  encephalitis  |  4
C0011570  |  depression  |  4
C0004943  |  behcet's disease  |  4
C0021053  |  immune disorders  |  3
C0007113  |  rectal cancer  |  3
C0038013  |  ankylosing spondylitis  |  3
C0042164  |  uveitis  |  3
C0033975  |  psychosis  |  3
C0007134  |  renal cell carcinoma  |  3
C0011860  |  type 2 diabetes  |  3
C0851578  |  sleep disorders  |  3
C0024312  |  lymphopenia  |  3
C0948265  |  metabolic syndrome  |  3
C0021053  |  immune disorder  |  3
C0023418  |  leukemia  |  3
C0278883  |  metastatic melanoma  |  3
C0024299  |  lymphoma  |  3
C0011849  |  diabetes mellitus  |  3
C0033860  |  psoriasis  |  3
C0038012  |  spondylitis  |  3
C0004153  |  atherosclerosis  |  3
C0042075  |  urological diseases  |  3
C0009402  |  colorectal cancer  |  3
C0520679  |  obstructive sleep apnea  |  2
C0019101  |  hemorrhagic fever with renal syndrome  |  2
C0011882  |  diabetic neuropathy  |  2
C0033687  |  proteinuria  |  2
C0549473  |  thyroid carcinoma  |  2
C0034494  |  rabies  |  2
C0022661  |  chronic kidney disease  |  2
C0042373  |  vascular disease  |  2
C0019158  |  hepatitis  |  2
C0023895  |  liver disease  |  2
C0679466  |  cognitive deficits  |  2
C0013421  |  dystonia  |  2
C0042769  |  viral infections  |  2
C0018784  |  sensorineural hearing loss  |  2
C0027813  |  neuritis  |  2
C0036631  |  seminoma  |  2
C0024115  |  pulmonary disease  |  2
C0022658  |  kidney disease  |  2
C0042870  |  vitamin d defic  |  2
C0004134  |  ataxia  |  2
C0338451  |  frontotemporal dementia  |  2
C0270922  |  demyelinating polyneuropathy  |  2
C0042384  |  vasculitis  |  2
C0029132  |  optic neuropathy  |  2
C0014175  |  endometriosis  |  2
C0036202  |  sarcoidosis  |  2
C0022658  |  nephropathy  |  2
C0018801  |  heart failure  |  2
C0037315  |  sleep apnea  |  2
C0034063  |  pulmonary edema  |  2
C0042769  |  viral infection  |  2
C0001206  |  acromegaly  |  2
C0036341  |  schizophrenia  |  2
C0024143  |  lupus nephritis  |  2
C0010346  |  crohn's disease  |  2
C0007115  |  thyroid ca  |  2
C0023364  |  leptospirosis  |  2
C0153452  |  gallbladder ca  |  2
C0302592  |  cervical ca  |  2
C0030343  |  panuveitis  |  2
C0025202  |  melanomas  |  2
C0011991  |  diarrhea  |  2
C0007847  |  cervical cancer  |  2
C0153452  |  gallbladder cancer  |  2
C1145670  |  respiratory failure  |  2
C0042870  |  vitamin d deficiency  |  2
C0020443  |  hypercholesterolemia  |  2
C0520679  |  obstructive sleep apnea syndrome  |  1
C0238463  |  papillary thyroid carcinoma  |  1
C0206062  |  interstitial lung disease  |  1
C0878544  |  cardiomyopathy  |  1
C0007682  |  cns disorder  |  1
C0014544  |  epileptic seizure  |  1
C0235974  |  pancreatic cancer  |  1
C0023449  |  acute lymphoblastic leukemia  |  1
C0001125  |  lactic acidosis  |  1
C0003864  |  joint inflammation  |  1
C0206686  |  adrenocortical carcinoma  |  1
C0004576  |  babesiosis  |  1
C0011615  |  atopic dermatitis  |  1
C0162871  |  abdominal aortic aneurysms  |  1
C0034155  |  thrombotic thrombocytopenic purpura  |  1
C2700641  |  lymphoplasmacytic lymphoma  |  1
C0879615  |  stromal tumor  |  1
C0007222  |  cardiovascular disorders  |  1
C0018799  |  heart disease  |  1
C0035305  |  retinal detachment  |  1
C0677886  |  epithelial ovarian cancer  |  1
C0006017  |  pertussis  |  1
C0085413  |  autosomal dominant polycystic kidney disease  |  1
C0023434  |  chronic lymphocytic leukemia  |  1
C0020437  |  hypercalcemia  |  1
C0042373  |  vascular disorders  |  1
C0003864  |  inflammatory arthritis  |  1
C0026848  |  myopathy  |  1
C0494165  |  liver metastasis  |  1
C0003872  |  psoriatic arthritis  |  1
C0553662  |  juvenile idiopathic arthritis  |  1
C0020456  |  hyperglycemia  |  1
C0279637  |  anal carcinoma  |  1
C0006852  |  vaginal candidiasis  |  1
C0027726  |  nephrotic syndrome  |  1
C0019163  |  hepatitis b  |  1
C0031117  |  peripheral neuropathy  |  1
C0221757  |  alpha-1 antitrypsin deficiency  |  1
C0003486  |  aortic aneurysms  |  1
C0027765  |  neurological disorder  |  1
C0006017  |  bordetella pertussis  |  1
C0270922  |  demyelinating neuropathy  |  1
C0037317  |  sleep disturbances  |  1
C0037315  |  sleep apnea syndrome  |  1
C0085096  |  peripheral vascular disease  |  1
C0030805  |  bullous pemphigoid  |  1
C0021334  |  infectious bovine rhinotracheitis  |  1
C0009326  |  collagen diseases  |  1
C0007194  |  hypertrophic cardiomyopathy  |  1
C0007570  |  celiac disease  |  1
C0039263  |  takayasu's arteritis  |  1
C0155866  |  inhalational anthrax  |  1
C0001418  |  adenocarcinomas  |  1
C0398623  |  hypercoagulable state  |  1
C0271051  |  macular edema  |  1
C0019204  |  hepatoma  |  1
C0206681  |  clear cell carcinoma  |  1
C0948954  |  alveolar echinococcosis  |  1
C0022104  |  irritable bowel  |  1
C0700639  |  hypertrophic pyloric stenosis  |  1
C0162871  |  abdominal aortic aneurysm  |  1
C0040034  |  thrombocytopenia  |  1
C0024117  |  chronic obstructive pulmonary disease  |  1
C0018213  |  graves' disease  |  1
C0038220  |  status epilepticus  |  1
C0152025  |  polyneuropathy  |  1
C0029134  |  optic neuritis  |  1
C0021831  |  enteropathy  |  1
C0024205  |  lymphadenitis  |  1
C0027873  |  neuromyelitis optica  |  1
C0023448  |  lymphoblastic leukemia  |  1
C0014868  |  esophagitis  |  1
C1302401  |  colorectal adenoma  |  1
C0024115  |  lung disease  |  1
C0030807  |  pemphigus  |  1
C0015469  |  facial paralysis  |  1
C0149521  |  chronic pancreatitis  |  1
C0476089  |  endometrial cancer  |  1
C0007787  |  transient ischemic attack  |  1
C0035328  |  retinal vein occlusion  |  1
C0007112  |  prostate adenocarcinoma  |  1
C0009326  |  collagen disease  |  1
C0029882  |  otitis media  |  1
C0015397  |  eye disease  |  1
C0039730  |  thalassemia  |  1
C0162836  |  hidradenitis suppurativa  |  1
C0014869  |  reflux esophagitis  |  1
C0023283  |  cutaneous leishmaniasis  |  1
C0022104  |  irritable bowel syndrome  |  1
C0270612  |  leukoencephalopathy  |  1
C0036472  |  scrub typhus  |  1
C0242379  |  lung cancer  |  1
C0011881  |  diabetic nephropathy  |  1
C0740394  |  hyperuricemia  |  1
C0020459  |  hyperinsulinemia  |  1
C0376545  |  hematologic malignancies  |  1
C0023448  |  lymphocytic leukemia  |  1
C0021847  |  intestinal pseudo-obstruction  |  1
C0281361  |  pancreatic adenocarcinoma  |  1
C0014118  |  endocarditis  |  1
C0035920  |  rubella  |  1
C0022679  |  cystic kidney  |  1
C0020542  |  pulmonary hypertension  |  1
C0020541  |  portal hypertension  |  1
C0017160  |  gastroenteritis  |  1
C0393571  |  multiple system atrophy  |  1
C0026850  |  muscular dystrophies  |  1
C0458219  |  complex regional pain syndrome  |  1
C0023281  |  leishmaniasis  |  1
C0022575  |  keratoconjunctivitis sicca  |  1
C0242172  |  pelvic inflammatory disease  |  1
C0085413  |  autosomal dominant polycystic kidney  |  1
C0024535  |  falciparum malaria  |  1
C0025289  |  meningitis  |  1
C0023473  |  chronic myelogenous leukemia  |  1
C0035302  |  retinal artery occlusion  |  1
C0162429  |  malnutrition  |  1
C0024301  |  follicular lymphoma  |  1
C0003175  |  anthrax  |  1
C0038828  |  superior mesenteric artery syndrome  |  1
C0006267  |  bronchiectasis  |  1
C0020676  |  hypothyroidism  |  1
C0025202  |  malignant melanoma  |  1
C0042373  |  vascular disorder  |  1
C0004771  |  bartonella infection  |  1
C0154874  |  neuroretinitis  |  1
C0015230  |  rash  |  1
C0007785  |  cerebral infarction  |  1
C0025007  |  measles  |  1
C0033953  |  sexual dysfunction  |  1
C0011860  |  type 2 diabetes mellitus  |  1
C0029456  |  osteoporosis  |  1
C0027121  |  inflammatory myopathies  |  1
C1704437  |  respiratory distress syndrome  |  1
C0020179  |  huntington's disease  |  1
C0264716  |  chronic heart failure  |  1
C0014547  |  focal epilepsy  |  1
C0037769  |  infantile spasms  |  1
C0041327  |  pulmonary tuberculosis  |  1
C0042769  |  virus infection  |  1
C0238198  |  gastrointestinal stromal tumors  |  1
C0017661  |  iga nephropathy  |  1
C0007102  |  colon cancer  |  1
C0155877  |  atopic asthma  |  1
C0007758  |  cerebellar ataxia  |  1
C0001418  |  adenocarcinoma  |  1
C0085253  |  adult-onset still's disease  |  1
C0022610  |  kernicterus  |  1
C0017668  |  focal segmental glomerulosclerosis  |  1
C0024236  |  lymphedema  |  1
C0007129  |  merkel cell carcinoma  |  1
C0029124  |  optic atrophy  |  1
C0031117  |  peripheral neuropathies  |  1
C0006123  |  branch retinal artery occlusion  |  1
C0314719  |  dry eye  |  1
C0007113  |  rectal carcinoma  |  1
C0032460  |  polycystic ovary  |  1
C0027059  |  myocarditis  |  1
C0021845  |  intestinal perforation  |  1
C0023890  |  cirrhosis  |  1
C0039841  |  thiamine deficiency  |  1
C0376545  |  hematological malignancies  |  1
C0024408  |  spinocerebellar ataxia type 3  |  1
C0017601  |  glaucoma  |  1
C0007222  |  cardiovascular disease  |  1
C0035222  |  acute respiratory distress syndrome  |  1
C0013595  |  eczema  |  1
C0039730  |  thalassaemia  |  1
C0011334  |  caries  |  1
C0751774  |  periodic limb movement  |  1
C0021053  |  immune dysfunction  |  1
C0021775  |  intermittent claudication  |  1
C0021400  |  influenza  |  1
C0014544  |  epileptic seizures  |  1
C0006818  |  campylobacter infection  |  1
C1510471  |  vitamin deficiencies  |  1
C0162429  |  nutritional deficiencies  |  1
C0030636  |  pasteurellosis  |  1
C0010068  |  coronary heart disease  |  1
C0270736  |  essential tremor  |  1
C0009402  |  colorectal carcinoma  |  1
C0476089  |  endometrial ca  |  1
C1140680  |  ovarian cancer  |  1
C0238198  |  gastrointestinal stromal tumor  |  1
C0026846  |  muscle atrophy  |  1
C0007785  |  cerebral infarct  |  1
C0598589  |  hereditary neuropathy  |  1
C0032285  |  pneumoniae  |  1
C0037317  |  sleep disturbance  |  1
C0751967  |  relapsing remitting multiple sclerosis  |  1
C0041327  |  pulmonary tb  |  1
C0011334  |  dental caries  |  1
C1140680  |  ovarian ca  |  1
C0040147  |  thyroiditis  |  1
C0023827  |  liposarcoma  |  1
C0011603  |  dermatitis  |  1
C0006663  |  calcinosis  |  1
C0003486  |  aortic aneurysm  |  1
C0022116  |  ischemia  |  1
C0024441  |  macular hole  |  1
C0026846  |  muscle wasting  |  1
C0002453  |  amenorrhea  |  1
C0376358  |  prostatic cancer  |  1
C0008049  |  chicken pox  |  1
C0002874  |  aplastic anemia  |  1
C0027697  |  nephritis  |  1
C0021390  |  inflammatory bowel diseases  |  1
C0032231  |  pleuritis  |  1
C0281373  |  respiratory papilloma  |  1
C0025290  |  aseptic meningitis  |  1
C0032460  |  polycystic ovary syndrome  |  1
C0035333  |  retinitis  |  1
C0030809  |  pemphigus vulgaris  |  1
C0563211  |  anal canal carcinoma  |  1
C0010674  |  cystic fibrosis  |  1
C0001339  |  acute pancreatitis  |  1
C0021053  |  immune disease  |  1
C0027127  |  myotonia congenita  |  1
C0600260  |  obstructive pulmonary disease  |  1
C0013990  |  emphysema  |  1
C0035334  |  retinitis pigmentosa  |  1
C0023470  |  myelogenous leukemia  |  1
C0085160  |  hidradenitis  |  1
C0019243  |  hereditary angioedema  |  1
C0376545  |  hematologic malignancy  |  1
C0272412  |  splenic abscess  |  1
C0206586  |  endolymphatic hydrops  |  1
C0243010  |  viral encephalitis  |  1
C0026946  |  mycosis  |  1
C0039103  |  synovitis  |  1
C0041696  |  major depressive disorder  |  1
C0014544  |  epilepsy  |  1
C0032914  |  preeclampsia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
340024  |  SLC6A19  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:16)
468  |  ATF4  |  1.62  |  DISEASES
1491  |  CTH  |  2.218  |  DISEASES
2248  |  FGF3  |  2.332  |  DISEASES
54546  |  RNF186  |  4.185  |  DISEASES
1757  |  SARDH  |  3.217  |  DISEASES
6446  |  SGK1  |  1.905  |  DISEASES
6564  |  SLC15A1  |  3.594  |  DISEASES
6510  |  SLC1A5  |  4.253  |  DISEASES
283130  |  SLC25A45  |  4.725  |  DISEASES
1811  |  SLC26A3  |  2.107  |  DISEASES
6514  |  SLC2A2  |  1.452  |  DISEASES
6520  |  SLC3A2  |  1.986  |  DISEASES
6524  |  SLC5A2  |  1.299  |  DISEASES
348932  |  SLC6A18  |  6.386  |  DISEASES
54716  |  SLC6A20  |  5.046  |  DISEASES
57393  |  TMEM27  |  5.75  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
SLC6A19  |  5p15.33
Disease ID 350
Disease hartnup disease
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:36)
HP:0000639  |  Nystagmus
HP:0001263  |  Global developmental delay
HP:0012086  |  Abnormal urinary color
HP:0004322  |  Short stature
HP:0002383  |  Encephalitis
HP:0000712  |  Emotional instability
HP:0004322  |  Stature below 3rd percentile
HP:0001251  |  Ataxia
HP:0001053  |  Hypopigmented skin patches
HP:0000486  |  Strabismus
HP:0000206  |  Glossitis
HP:0000739  |  Anxiety
HP:0002131  |  Intermittent cerebellar ataxia
HP:0001276  |  Hypertonia
HP:0008353  |  Neutral hyperaminoaciduria
HP:0000478  |  Abnormality of the eye
HP:0002024  |  Malabsorption
HP:0000992  |  Skin photosensitivity
HP:0001250  |  Seizures
HP:0002353  |  EEG abnormality
HP:0008066  |  Abnormal blistering of the skin
HP:0001263  |  Developmental retardation
HP:0000230  |  Gingivitis
HP:0007400  |  Irregular hyperpigmentation
HP:0000709  |  Psychosis
HP:0000712  |  Emotional lability
HP:0002076  |  Migraine
HP:0001249  |  Intellectual disability
HP:0000988  |  Skin rash
HP:0000504  |  Abnormality of vision
HP:0001347  |  Hyperreflexia
HP:0000992  |  Cutaneous photosensitivity
HP:0000613  |  Photophobia
HP:0000738  |  Hallucinations
HP:0000206  |  Inflammation of the tongue
HP:0001252  |  Muscular hypotonia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:248)
HP:0001370  |  Rheumatoid arthritis  |  33
HP:0001369  |  Arthritis  |  25
HP:0002664  |  Neoplasia  |  19
HP:0012531  |  Pain  |  16
HP:0003002  |  Breast carcinoma  |  16
HP:0002725  |  Systemic lupus erythematosus  |  11
HP:0030731  |  Carcinoma  |  11
HP:0012378  |  Fatigue  |  10
HP:0002861  |  Melanoma  |  9
HP:0012125  |  Prostate cancer  |  9
HP:0001513  |  Obesity  |  8
HP:0100806  |  Sepsis  |  8
HP:0100543  |  Cognitive deficits  |  7
HP:0002960  |  Autoimmune condition  |  7
HP:0001903  |  Anemia  |  6
HP:0009725  |  Bladder neoplasm  |  6
HP:0000822  |  Hypertension  |  6
HP:0001945  |  Fever  |  6
HP:0000969  |  Dropsy  |  5
HP:0003287  |  Abnormality of mitochondrial metabolism  |  5
HP:0002099  |  Asthma  |  5
HP:0010783  |  Erythema  |  4
HP:0000739  |  Anxiety  |  4
HP:0001297  |  Cerebral vascular events  |  4
HP:0000716  |  Depression  |  4
HP:0000726  |  Dementia  |  4
HP:0001824  |  Weight loss  |  3
HP:0000709  |  Psychosis  |  3
HP:0001397  |  Hepatic steatosis  |  3
HP:0003765  |  Psoriasis  |  3
HP:0001324  |  Muscular weakness  |  3
HP:0001635  |  Congestive heart failure  |  3
HP:0001337  |  Tremor  |  3
HP:0001268  |  Mental deterioration  |  3
HP:0002621  |  Atherosclerosis  |  3
HP:0001909  |  Leukemia  |  3
HP:0001249  |  Mental retardation  |  3
HP:0003470  |  Inability to move  |  3
HP:0000554  |  Uveitis  |  3
HP:0005584  |  Renal cell carcinoma  |  3
HP:0001250  |  Seizures  |  3
HP:0001760  |  Foot deformities  |  3
HP:0012115  |  Liver inflammation  |  3
HP:0001744  |  Splenomegaly  |  3
HP:0002716  |  Lymph node hyperplasia  |  3
HP:0002665  |  Lymphoma  |  3
HP:0012444  |  Brain wasting  |  3
HP:0001888  |  Lymphocytopenia  |  3
HP:0000819  |  Diabetes mellitus  |  3
HP:0000821  |  Underactive thyroid  |  2
HP:0040049  |  Macular edema  |  2
HP:0000855  |  Insulin resistance  |  2
HP:0000845  |  Acromegalic growth  |  2
HP:0002145  |  Frontotemporal dementia  |  2
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  2
HP:0005086  |  Knee osteoarthritis  |  2
HP:0002149  |  Hyperuricemia  |  2
HP:0002797  |  Increased bone resorption  |  2
HP:0002015  |  Swallowing difficulty  |  2
HP:0003003  |  Colon cancer  |  2
HP:0030127  |  Endometriosis  |  2
HP:0012121  |  Panuveitis  |  2
HP:0003124  |  Elevated serum cholesterol  |  2
HP:0001138  |  Damaged optic nerve  |  2
HP:0012592  |  Albuminuria  |  2
HP:0002140  |  Ischemic stroke  |  2
HP:0000093  |  Proteinuria  |  2
HP:0011069  |  Extra teeth  |  2
HP:0012622  |  Chronic kidney disease  |  2
HP:0002104  |  Absence of spontaneous respiration  |  2
HP:0002878  |  Respiratory failure  |  2
HP:0012649  |  Increased inflammatory response  |  2
HP:0000407  |  sensorineural hearing loss  |  2
HP:0000738  |  Sensory hallucination  |  2
HP:0100598  |  Pulmonary oedema  |  2
HP:0002459  |  Dysautonomia  |  2
HP:0001399  |  Liver failure  |  2
HP:0002383  |  Encephalitis  |  2
HP:0010535  |  Sleep apnea  |  2
HP:0001251  |  Ataxia  |  2
HP:0012393  |  Allergy  |  2
HP:0002870  |  Obstructive sleep apnea  |  2
HP:0000501  |  Glaucoma  |  2
HP:0002615  |  Low blood pressure  |  2
HP:0100665  |  Angiooedema  |  2
HP:0000147  |  Sclerocystic ovaries  |  2
HP:0002014  |  Diarrhea  |  2
HP:0100280  |  Morbus Crohn  |  2
HP:0001541  |  Ascites  |  2
HP:0001332  |  Dystonia  |  2
HP:0100769  |  Synovitis  |  2
HP:0001761  |  Pes cavus  |  2
HP:0100753  |  Schizophrenia  |  2
HP:0003690  |  Limb weakness  |  2
HP:0100512  |  Vitamin D deficiency  |  2
HP:0001289  |  Confusion  |  2
HP:0002180  |  Neurodegeneration  |  2
HP:0002633  |  Vasculitis  |  2
HP:0002890  |  Thyroid carcinoma  |  2
HP:0000112  |  Nephropathy  |  2
HP:0012123  |  Posterior uveitis  |  1
HP:0004417  |  Intermittent claudication  |  1
HP:0100532  |  Scleritis  |  1
HP:0100022  |  Movement disorder  |  1
HP:0030217  |  Limb apraxia  |  1
HP:0005681  |  Juvenile idiopathic arthritis  |  1
HP:0007302  |  Bipolar disorder  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0000097  |  focal glomerulosclerosis  |  1
HP:0001915  |  Aplastic anemia  |  1
HP:0006721  |  Acute lymphocytic leukemia  |  1
HP:0000100  |  Nephrosis  |  1
HP:0012219  |  Erythema nodosum  |  1
HP:0002138  |  Subarachnoid hemorrhage  |  1
HP:0001873  |  Low platelet count  |  1
HP:0000405  |  Conductive hearing loss  |  1
HP:0002024  |  Intestinal malabsorption  |  1
HP:0004395  |  Malnutrition  |  1
HP:0003198  |  Myopathic changes  |  1
HP:0000510  |  Retinitis pigmentosa  |  1
HP:0000141  |  Abnormal absence of menstruation  |  1
HP:0006280  |  Chronic pancreas inflammation  |  1
HP:0000505  |  Poor vision  |  1
HP:0004755  |  Supraventricular tachycardia  |  1
HP:0001997  |  Gout  |  1
HP:0100602  |  Pre-eclampsia  |  1
HP:0002352  |  Leukoencephalopathy  |  1
HP:0012089  |  Arteritis  |  1
HP:0006554  |  Acute hepatic failure  |  1
HP:0001336  |  Myoclonic jerks  |  1
HP:0030692  |  Brain tumor  |  1
HP:0003074  |  High blood glucose  |  1
HP:0012074  |  Adie pupil  |  1
HP:0002110  |  Bronchiectasis  |  1
HP:0009027  |  Foot drop  |  1
HP:0001596  |  Hair loss  |  1
HP:0003072  |  Hypercalcemia  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0002097  |  Pulmonary emphysema  |  1
HP:0000980  |  Pallor  |  1
HP:0100754  |  Mania  |  1
HP:0002840  |  Lymphadenitis  |  1
HP:0002098  |  Respiratory distress  |  1
HP:0200136  |  Oral-pharyngeal dysphagia  |  1
HP:0012418  |  Low blood oxygen level  |  1
HP:0100653  |  Optic neuritis  |  1
HP:0002486  |  Myotonia  |  1
HP:0002171  |  Cerebral gliosis  |  1
HP:0012817  |  Noncompaction of the ventricular myocardium  |  1
HP:0001272  |  Cerebellar atrophy  |  1
HP:0002895  |  Papillary thyroid carcinoma  |  1
HP:0006530  |  Interstitial lung disease  |  1
HP:0100820  |  Glomerulopathy  |  1
HP:0011508  |  Macular hole  |  1
HP:0001395  |  Hepatic fibrosis  |  1
HP:0100723  |  Gastrointestinal stroma tumor  |  1
HP:0006510  |  Chronic obstructive pulmonary disease  |  1
HP:0002094  |  Dyspnea  |  1
HP:0040154  |  Hidradenitis suppurativa  |  1
HP:0002894  |  Neoplasia of the pancreas  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0002206  |  Pulmonary fibrosis  |  1
HP:0001695  |  Cardiac arrest  |  1
HP:0007354  |  Amyotrophic lateral sclerosis  |  1
HP:0003155  |  Hyperphosphatasia  |  1
HP:0012122  |  Anterior uveitis  |  1
HP:0002953  |  Vertebral compression fractures  |  1
HP:0100273  |  Colon tumor  |  1
HP:0000939  |  Osteoporosis  |  1
HP:0004942  |  Aortic aneurysm  |  1
HP:0001394  |  Hepatic cirrhosis  |  1
HP:0001271  |  Polyneuropathy  |  1
HP:0012034  |  Liposarcoma  |  1
HP:0005550  |  Chronic lymphatic leukemia  |  1
HP:0002360  |  Sleep disturbance  |  1
HP:0002326  |  TIA  |  1
HP:0000123  |  Nephritis  |  1
HP:0000541  |  Detached retina  |  1
HP:0100033  |  Tic disorder  |  1
HP:0004763  |  Episodic supraventricular tachycardia  |  1
HP:0001409  |  Portal hypertension  |  1
HP:0009830  |  Peripheral neuritis  |  1
HP:0000648  |  Optic-nerve degeneration  |  1
HP:0006744  |  Adrenal carcinoma  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0004953  |  Abdominal aortic aneurysm  |  1
HP:0001343  |  Kernicterus  |  1
HP:0002133  |  Status epilepticus  |  1
HP:0040213  |  Hypopnea  |  1
HP:0005506  |  Chronic myeloid leukemia  |  1
HP:0000718  |  Aggressive behaviour  |  1
HP:0002092  |  Pulmonary artery hypertension  |  1
HP:0000964  |  Eczema  |  1
HP:0001639  |  Hypertrophic cardiomyopathy  |  1
HP:0012735  |  Coughing  |  1
HP:0011096  |  Demyelination  |  1
HP:0001047  |  Atopic dermatitis  |  1
HP:0003128  |  Lactic acidosis  |  1
HP:0002608  |  Celiac disease  |  1
HP:0030186  |  Essential tremor  |  1
HP:0001097  |  Keratoconjunctivitis sicca  |  1
HP:0000388  |  Otitis media  |  1
HP:0001627  |  Congenital heart defects  |  1
HP:0100584  |  Endocarditis  |  1
HP:0002487  |  Muscle spasms  |  1
HP:0002659  |  Increased tendency to fractures  |  1
HP:0003394  |  Muscle cramps  |  1
HP:0100035  |  Vocal tics  |  1
HP:0010543  |  Opsoclonus  |  1
HP:0002105  |  Hemoptysis  |  1
HP:0012190  |  T cell lymphoma  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0002242  |  Enteropathy  |  1
HP:0002634  |  Arteriosclerosis  |  1
HP:0000316  |  Increased distance between eye sockets  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0011531  |  Hyalitis  |  1
HP:0200123  |  Chronic liver inflammation  |  1
HP:0002120  |  Cerebral cortical atrophy  |  1
HP:0100646  |  Thyroiditis  |  1
HP:0030666  |  Retinal neovascularisation  |  1
HP:0000670  |  Dental caries  |  1
HP:0001287  |  Meningitis  |  1
HP:0004756  |  Ventricular tachycardia  |  1
HP:0012231  |  Exudative retinal detachment  |  1
HP:0004389  |  Intestinal pseudo-obstruction  |  1
HP:0001004  |  Lymphatic obstruction  |  1
HP:0000842  |  Elevated insulin level  |  1
HP:0009733  |  Glioma  |  1
HP:0100633  |  Inflammation of the esophagus  |  1
HP:0002102  |  Pleuritis  |  1
HP:0001604  |  Hoarse voice due to vocal cord paresis  |  1
HP:0001649  |  Tachycardia  |  1
HP:0012469  |  Infantile spasms  |  1
HP:0001941  |  acidemia  |  1
HP:0012636  |  Retinal vein occlusion  |  1
HP:0002155  |  Increased triglycerides  |  1
HP:0002527  |  Falls  |  1
HP:0002240  |  Enlarged liver  |  1
HP:0000975  |  Increased sweating  |  1
HP:0012819  |  Myocarditis  |  1
HP:0003761  |  Calcinosis  |  1
HP:0000113  |  Polycystic kidney dysplasia  |  1
HP:0006725  |  Pancreatic adenocarcinoma  |  1
HP:0000622  |  Blurred vision  |  1
HP:0100013  |  Tumours of the breast  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0012532  |  Chronic pain  |  1
Disease ID 350
Disease hartnup disease
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0393593  |  dystonia
C0025517  |  metabolic disorder
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:7)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs12143434615286788340024SLC6A19umls:C0018609UNIPROTHartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.0.5629858612004SLC6A1951212338GA
rs121434346NA340024SLC6A19umls:C0018609CLINVARNA0.562985861NASLC6A1951212338GA
rs121434347NA340024SLC6A19umls:C0018609CLINVARNA0.562985861NASLC6A1951213517CT
rs121912748182662053476IGBP1umls:C0018609BeFreeOf these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)).0.0005428842008SLC4A11744253327CT
rs121912748182662056521SLC4A1umls:C0018609BeFreeOf these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)).0.0002714422008SLC4A11744253327CT
rs121912751182662056521SLC4A1umls:C0018609BeFreeOf these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)).0.0002714422008SLC4A11744251241GT
rs121912751182662053476IGBP1umls:C0018609BeFreeOf these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)).0.0005428842008SLC4A11744251241GT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:8)
HP ID HP Name MP ID MP Name Annotation
HP:0008066Abnormal blistering of the skinMP:0009536abnormal interstitial cell of Cajal morphologyany structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0000992Cutaneous photosensitivityMP:0001202skin photosensitivityabnormally heightened reactivity of the skin to sunlight
HP:0000478Abnormality of the eyeMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0001053Hypopigmented skin patchesMP:0004947skin inflammationlocal accumulation of fluid, plasma proteins, and leukocytes in the skin
HP:0000504Abnormality of visionMP:0012528abnormal zone of polarizing activity morphologyany structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0002131Episodic ataxiaMP:0001393ataxiainability to coordinate voluntary muscular movements
Mapped by homologous gene(Total Items:30)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000739AnxietyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000486StrabismusMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001347HyperreflexiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002024MalabsorptionMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002131Episodic ataxiaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0000712Emotional labilityMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000992Cutaneous photosensitivityMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0008066Abnormal blistering of the skinMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000206GlossitisMP:0013293embryonic lethality prior to tooth bud stagedeath prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0002383EncephalitisMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0001263Global developmental delayMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001053Hypopigmented skin patchesMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0001276HypertoniaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0007400Irregular hyperpigmentationMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0000709PsychosisMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0002076MigraineMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000639NystagmusMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000230GingivitisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0008353Neutral hyperaminoaciduriaMP:0011417abnormal renal transportany anomaly of the directed movement of substances through the kidney
HP:0000504Abnormality of visionMP:0013545cleft hard palatecleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones
HP:0000613PhotophobiaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000738HallucinationsMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000478Abnormality of the eyeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000988Skin rashMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
Disease ID 350
Disease hartnup disease
Case(Waiting for update.)