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Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

MedGen UID:
928748
Concept ID:
C4303079
Disease or Syndrome
Synonyms: Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome; hypogonadotropic hypogonadism-frontoparietal alopecia syndrome; Salti Salem syndrome; Salti-Salem syndrome
SNOMED CT: Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (721842008); Salti Salem syndrome (721842008)
Modes of inheritance:
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.
 
Monarch Initiative: MONDO:0016384
Orphanet: ORPHA2230

Definition

Syndrome with the association of hypogonadotropic hypogonadism and frontoparietal alopecia. It has been described in six members (four males and two females) of a consanguineous Lebanese family. In addition to frontoparietal alopecia, the remaining scalp hair was also sparse and axillary and pubic hair was absent. Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Diagnosis

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Therapy

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Prognosis

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J Clin Neurophysiol 2022 Sep 1;39(6):504-509. Epub 2020 Dec 30 doi: 10.1097/WNP.0000000000000811. PMID: 33417382
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Clinical prediction guides

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Recent systematic reviews

Kohil A, Abdallah AM, Hussain K, Al-Shafai M
Orphanet J Rare Dis 2023 Jan 31;18(1):22. doi: 10.1186/s13023-023-02614-8. PMID: 36721231Free PMC Article
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