Genopathy
Gene-Disorder Association · Article
Gene
PTCHD1-AS
PTCHD1 And PHEX Antisense RNA
Disorder
Hypophosphatemic Rickets, X-Linked Dominant
First reported 1997
Supporting publications 27
Key publication · gene–disorder Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).Human molecular genetics · 1997
Key publication · disorder A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.Medicine · 1958
Manually curated
Association Review

In brief

The association between PTCHD1-AS (PTCHD1 And PHEX Antisense RNA) and Hypophosphatemic Rickets, X-Linked Dominant is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 148
Symptoms 99
Compounds 0
Trials 0
Publications 27
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PTCHD1-AS

The gene

A gene summary alongside the source descriptions it was distilled from.

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04
Hypophosphatemic Rickets, X-Linked Dominant

The disorder

16 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

69 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

148 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

27 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

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