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Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

MedGen UID:
976463
•Concept ID:
CN294224
•
Disease or Syndrome
Synonym: 4H syndrome
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 recessive inheritance (Orphanet)
 
Orphanet: ORPHA88637

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Recent clinical studies

Etiology

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048

Diagnosis

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
An Indian boy with a novel leukodystrophy: 4H syndrome.
Jauhari P, Sahu JK, Singhi P, Dayal D, Khandelwal N
J Child Neurol 2014 Jan;29(1):135-8. Epub 2013 Jan 9 doi: 10.1177/0883073812470737. PMID: 23307887
Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.
Bekiesinska-Figatowska M, Mierzewska H, Kuczynska-Zardzewialy A, Szczepanik E, Obersztyn E
Brain Dev 2010 Aug;32(7):574-8. Epub 2009 Aug 22 doi: 10.1016/j.braindev.2009.07.008. PMID: 19700253

Prognosis

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
Lessel D, Rading K, Campbell SE, Thiele H, Altmüller J, Gordon LB, Kubisch C
Am J Med Genet A 2022 Jan;188(1):216-223. Epub 2021 Oct 5 doi: 10.1002/ajmg.a.62525. PMID: 34611991

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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