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Congenital Fanconi syndrome

MedGen UID:
341765
•Concept ID:
C1857395
•
Disease or Syndrome
Synonyms: Primary Fanconi syndrome; Primary Toni-Debre-Fanconi syndrome
SNOMED CT: Hepatic glycogenosis with de Toni-Debré-Fanconi syndrome (61598006); Hepatic glycogenosis with de Toni-Debre-Fanconi syndrome (61598006); De Toni-Fanconi syndrome (236466005); Primary Fanconi syndrome (236466005); Congenital Fanconi syndrome (236466005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007600
Orphanet: ORPHA3337

Definition

A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Rickets guidance: part II-management.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.
Jamalpoor A, Othman A, Levtchenko EN, Masereeuw R, Janssen MJ
Trends Mol Med 2021 Jul;27(7):673-686. Epub 2021 May 8 doi: 10.1016/j.molmed.2021.04.004. PMID: 33975805
Genotype-phenotype associations in Fanconi anemia: A literature review.
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article

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