Genopathy
Gene-Disorder Association · Article
Gene
PTCHD1-AS
PTCHD1 And PHEX Antisense RNA
Disorder
Hypophosphatemic Rickets, Autosomal Dominant
First reported 1958
Supporting publications 5
Key publication · disorder A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.Medicine · 1958
Association Review

In brief

The association between PTCHD1-AS (PTCHD1 And PHEX Antisense RNA) and Hypophosphatemic Rickets, Autosomal Dominant is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 34
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
PTCHD1-AS

The gene

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

Request access
04
Hypophosphatemic Rickets, Autosomal Dominant

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

21 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

Request access
07
Literature

Reading

5 publications

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

Request access
08
Provenance

References & sources

10 references

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

Request access