ORPHA:720357

Otofaciocervical syndrome with thymic hypoplasia

Synonyms: Fara-Chlupackova syndrome type 2 · OFC syndrome type 2 · OTFCS2 · Otofaciocervical syndrome type 2 · Otofaciocervical syndrome without hypoplasia of the thymus

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Otofaciocervical syndrome with thymic hypoplasia	Fara-Chlupackova syndrome type 2 · OFC syndrome type 2 · OTFCS2 · Otofaciocervical syndrome type 2 · Otofaciocervical syndrome without hypoplasia of the thymus
fr	Syndrome oto-facio-cervical avec hypoplasie thymique	Syndrome de Fara-Chlupackova type 2 · Syndrome oto-facio-cervical sans hypoplasie du thymus · Syndrome oto-facio-cervical type 2 · OTFCS2 · Syndrome OFC type 2
de	Oto-fazio-zervikales Syndrom mit Thymus-Hypoplasie	OTFCS2 · OFC-Syndrom Typ 2 · Fara-Chlupackova-Syndrom Typ 2 · Oto-fazio-zervikales Syndrom Typ 2
es	Síndrome otofaciocervical con hipoplasia tímica	Síndrome OFC tipo 2 · Síndrome de Fara-Chlupackova tipo 2 · OTFCS2 · Síndrome otofaciocervical tipo 2 · Síndrome otofaciocervical con hipoplasia del timo
it	Sindrome oto-facio-cervicale con ipoplasia timica	Sindrome oto-facio-cervicale tipo 2 · Sindrome oto-facio-cervicale senza ipoplasia del timo · OTFCS2 · Sindrome OFC tipo 2 · Sindrome di Fara-Chlupackova tipo 2
nl	Otofaciocervicaal syndroom met hypoplasie van thymus	OTFCS2 · OFC syndroom type 2 · Syndroom van Fara-Chlupackova type 2 · Otofaciocervicaal syndroom type 2
pt	Otofaciocervical syndrome with thymic hypoplasia
pl	Otofaciocervical syndrome with thymic hypoplasia	= en
cs	Otofaciocervical syndrome with thymic hypoplasia	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	615560	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (3):

ORPHA:2792Otofaciocervical syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
rare genetic diseases; rare immunological diseases
ORPHA:720280T-B+NK+ severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PAX1	Disease-causing germline mutation(s) in	Assessed	HGNC:8615	ENSG00000125813	167411	20p11.22	paired box 1	23851939[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/720357
This record as JSON: /data/d/720357.json