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X-linked intellectual disability, Pai type

MedGen UID:
930695
•Concept ID:
C4305026
•
Disease or Syndrome
Synonym: X-linked intellectual disability Pai type
SNOMED CT: X-linked intellectual disability Pai type (719011002)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019420
Orphanet: ORPHA85322

Definition

This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked intellectual disability, Pai type

Recent clinical studies

Etiology

Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.
Pai GS, Khan M, Barbosa E, Key LL, Craver JR, Curé JK, Betros R, Singh I
Mol Genet Metab 2000 Apr;69(4):312-22. doi: 10.1006/mgme.2000.2977. PMID: 10870849

Diagnosis

Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
Hahn S, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O
Mol Genet Metab 2001 May;73(1):86-90. doi: 10.1006/mgme.2001.3169. PMID: 11350187

Therapy

Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.
Pai GS, Khan M, Barbosa E, Key LL, Craver JR, Curé JK, Betros R, Singh I
Mol Genet Metab 2000 Apr;69(4):312-22. doi: 10.1006/mgme.2000.2977. PMID: 10870849

Prognosis

Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
Hahn S, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O
Mol Genet Metab 2001 May;73(1):86-90. doi: 10.1006/mgme.2001.3169. PMID: 11350187
Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.
Pai GS, Khan M, Barbosa E, Key LL, Craver JR, Curé JK, Betros R, Singh I
Mol Genet Metab 2000 Apr;69(4):312-22. doi: 10.1006/mgme.2000.2977. PMID: 10870849

Clinical prediction guides

Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.
Pai GS, Khan M, Barbosa E, Key LL, Craver JR, Curé JK, Betros R, Singh I
Mol Genet Metab 2000 Apr;69(4):312-22. doi: 10.1006/mgme.2000.2977. PMID: 10870849
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site.
Szabo P, Purrello M, Rocchi M, Archidiacono N, Alhadeff B, Filippi G, Toniolo D, Martini G, Luzzatto L, Siniscalco M
Proc Natl Acad Sci U S A 1984 Dec;81(24):7855-9. doi: 10.1073/pnas.81.24.7855. PMID: 6595664Free PMC Article

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