Histidinuria due to a renal tubular defect

Preferred Label : Histidinuria due to a renal tubular defect;

Type : Phenotype or locus, molecular basis unknown;

Description : Sabater et al. (1976) described 2 brothers, aged 9 and 11 years, with mild mental retardation and histidinuria despite normal blood levels. Histidine loading showed impaired intestinal absorption. The inheritance is presumably autosomal recessive because both parents showed intermediate intestinal absorption. Holmgren et al. (1974) had reported 1 patient with renal histidinuria associated with myoclonic seizures. Kamoun et al. (1981) likewise reported 1 patient with associated histidinuria and myoclonic seizures. Nyhan and Hilton (1992) described a 7-year-old boy with histidinuria without histidinemia. Low concentrations of histidine in plasma were consistent with impaired intestinal and renal tubular absorption of histidine. The patient was developmentally delayed and had some minor anomalies: bilateral nerve deafness of moderate severity; protuberant large and somewhat simple oracles; very short thick fingers and toes with hypoplasia of the toenails; and broad nasal bridge with long shallow philtrum and thin upper lip. Roentgenograms showed that the shortness of the 5th digit resulted from a short rounded middle phalanx that was abnormal in shape. All 5 patients who have been reported have been male. *FIELD* RF 1. Holmgren, G.; Hambraeus, L.; Chateau, P.: Histidinemia and normo-histidinemic histidinuria. Acta Paediat. Scand. 63: 220-224, 1974. 2. Kamoun, P. P.; Parvy, P.; Cathelineau, L.; Meyer, B.: Renal histidinuria. J. Inherit. Metab. Dis. 4: 217-219, 1981. 3. Nyhan, W. L.; Hilton, S.: Histidinuria: defective transport of histidine. Am. J. Med. Genet. 44: 558-561, 1992. 4. Sabater, J.; Ferre, C.; Puliol, M.; Maya, A.: Histidinuria: a renal and intestinal histidine transport deficiency found in two mentally retarded children. Clin. Genet. 9: 117-124, 1976. *FIELD* CS Neuro: Mental retardation; Myoclonic seizures GI: Impaired histidine intestinal absorption GU: Impaired histidine renal tubular absorption;

Inheritance : Autosomal recessive;

Prefixed ID : %235830;

Details

Origin ID

235830;

UMLS CUI

C0268642;

Automatic exact mappings (from CISMeF team)
- Histidine transport defect (disorder) [SNOMED CT concept]
- histidine transport defect [SNOMED Notion]
Currated CISMeF NLP mapping
- Histidinuria [HPO term]
- Histidinuria renal tubular defect [MeSH concept]
- Histidinuria-renal tubular defect syndrome [ORDO Disease]
- histidinuria [CISMeF Querying Strategy]
- histidinuria renal tubular defect [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Generalized myoclonic seizure [HPO term]
- Histidinuria [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypoplastic toenails [HPO term]
- Impaired histidine renal tubular absorption [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Macrotia [HPO term]
- Rounded middle phalanx of finger [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short middle phalanx of finger [HPO term]
- Smooth philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Histidinuria-renal tubular defect syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Histidine transport defect (disorder) [SNOMED CT concept]
- Histidinuria [HPO term]
- Histidinuria renal tubular defect [MeSH concept]
- Histidinuria-renal tubular defect syndrome [ORDO Disease]
- histidine transport defect [SNOMED Notion]
- histidinuria [CISMeF Querying Strategy]
- histidinuria renal tubular defect [MeSH Supplementary Concept]

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