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Neutral 1 amino acid transport defect(HND)

MedGen UID:
6723
Concept ID:
C0018609
Disease or Syndrome
Synonyms: Hartnup disease; Hartnup disorder; HND
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Neutral amino acid transport defect (80902009); Neutral 1 amino acid transport defect (80902009); Hartnup disease (80902009); Hartnup disorder (80902009); Deficiency of tryptophan pyrrolase (124208000); Deficiency of tryptophan oxygenase (124208000); Deficiency of tryptophan 2,3-dioxygenase (124208000)
 
Gene: SLC6A19
Cytogenetic location: 5p15.33
OMIM®: 234500
Orphanet: ORPHA2116

Definition

An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia. [from NCI]

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Neutral hyperaminoaciduria
MedGen UID:
344676
Concept ID:
C1856194
Finding
Aminoaciduria
MedGen UID:
425142
Concept ID:
CN003029
Finding
An increased concentration of an amino acid in the urine.
Glossitis
MedGen UID:
504392
Concept ID:
CN000199
Finding
Inflammation of the tongue.
Gingivitis
MedGen UID:
504401
Concept ID:
CN000222
Finding
Inflammation of the gingiva.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Hallucinations
MedGen UID:
776581
Concept ID:
C2364080
Finding
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Psychosis
MedGen UID:
504566
Concept ID:
CN000666
Finding
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Emotional lability
MedGen UID:
504567
Concept ID:
CN000669
Finding
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Migraine
MedGen UID:
505085
Concept ID:
CN001878
Finding
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Encephalitis
MedGen UID:
505221
Concept ID:
CN002164
Finding
Intermittent cerebellar ataxia
MedGen UID:
775754
Concept ID:
CN005978
Finding
Episodes or attacks of ataxia typically lasting from 10 minutes to several hours.
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Skin rash
MedGen UID:
504676
Concept ID:
CN000925
Finding
Cutaneous photosensitivity
MedGen UID:
428240
Concept ID:
CN000929
Finding
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Neutral hyperaminoaciduria
MedGen UID:
344676
Concept ID:
C1856194
Finding
Aminoaciduria
MedGen UID:
425142
Concept ID:
CN003029
Finding
An increased concentration of an amino acid in the urine.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGNeutral 1 amino acid transport defect

Recent clinical studies

Etiology

Zheng Y, Zhou C, Huang Y, Bu D, Zhu X, Jiang W
Int J Dermatol 2009 Apr;48(4):388-92. doi: 10.1111/j.1365-4632.2009.03989.x. PMID: 19335424
Azmanov DN, Rodgers H, Auray-Blais C, Giguère R, Bailey C, Bröer S, Rasko JE, Cavanaugh JA
Ann Hum Genet 2007 Nov;71(Pt 6):755-61. Epub 2007 Jun 7 doi: 10.1111/j.1469-1809.2007.00375.x. [Epub ahead of print] PMID: 17555458
Singhi S, Singh P, Singhi M, Ghai OP
Indian Pediatr 1978 Aug;15(8):691-3. PMID: 751957
Med J Aust 1977 Aug 13;2(7):201-2. PMID: 909480
Wilcken B, Yu JS, Brown DA
Arch Dis Child 1977 Jan;52(1):38-40. PMID: 836052Free PMC Article

Diagnosis

Orbak Z, Ertekin V, Selimoglu A, Yilmaz N, Tan H, Konak M
J Health Popul Nutr 2010 Aug;28(4):413-5. PMID: 20824986Free PMC Article
Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW
Pediatr Neurol 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. PMID: 20399395
Seyhan ME, Selimoğlu MA, Ertekin V, Fidanoğlu O, Altinkaynak S
Pediatr Dermatol 2006 May-Jun;23(3):262-5. doi: 10.1111/j.1525-1470.2006.00231.x. PMID: 16780476
Wilcken B, Yu JS, Brown DA
Arch Dis Child 1977 Jan;52(1):38-40. PMID: 836052Free PMC Article
Navab F, Asatoor AM
Gut 1970 May;11(5):373-9. PMID: 4246731Free PMC Article

Therapy

Kim DM, Benndorf G, Von Moers A, Campi A, Lehmann TN
J Endovasc Ther 2004 Jun;11(3):348-50. doi: 10.1583/03-1123.1. PMID: 15174904
Jonas AJ, Butler IJ
J Clin Invest 1989 Jul;84(1):200-4. doi: 10.1172/JCI114141. PMID: 2472426Free PMC Article
Navab F, Asatoor AM
Gut 1970 May;11(5):373-9. PMID: 4246731Free PMC Article
Halvorsen S, Hygstedt O, Jagenburg R, Sjaastad O
J Clin Invest 1969 Aug;48(8):1552-9. doi: 10.1172/JCI106121. PMID: 5796364Free PMC Article
Milne MD
Biochem J 1969 Feb;111(3):3P-4P. PMID: 4237364Free PMC Article

Prognosis

Orbak Z, Ertekin V, Selimoglu A, Yilmaz N, Tan H, Konak M
J Health Popul Nutr 2010 Aug;28(4):413-5. PMID: 20824986Free PMC Article
Singhi S, Singh P, Singhi M, Ghai OP
Indian Pediatr 1978 Aug;15(8):691-3. PMID: 751957
Med J Aust 1977 Aug 13;2(7):201-2. PMID: 909480
Wilcken B, Yu JS, Brown DA
Arch Dis Child 1977 Jan;52(1):38-40. PMID: 836052Free PMC Article
Groth U, Rosenberg LE
J Clin Invest 1972 Aug;51(8):2130-42. doi: 10.1172/JCI107020. PMID: 5054467Free PMC Article

Clinical prediction guides

Azmanov DN, Kowalczuk S, Rodgers H, Auray-Blais C, Giguère R, Rasko JE, Bröer S, Cavanaugh JA
Hum Mutat 2008 Oct;29(10):1217-21. doi: 10.1002/humu.20777. PMID: 18484095
Kim DM, Benndorf G, Von Moers A, Campi A, Lehmann TN
J Endovasc Ther 2004 Jun;11(3):348-50. doi: 10.1583/03-1123.1. PMID: 15174904
Jonas AJ, Butler IJ
J Clin Invest 1989 Jul;84(1):200-4. doi: 10.1172/JCI114141. PMID: 2472426Free PMC Article
Tahmoush AJ, Alpers DH, Feigin RD, Armbrustmacher V, Prensky AL
Arch Neurol 1976 Dec;33(12):797-807. PMID: 999542
Groth U, Rosenberg LE
J Clin Invest 1972 Aug;51(8):2130-42. doi: 10.1172/JCI107020. PMID: 5054467Free PMC Article

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