ORPHA:98797

Isochromosomy Yp syndrome

Type: Malformation syndrome
Group: Disorder
Age of onset: Adolescent, Adult
Status: active

A rare sex-chromosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isochromosomy Yp syndrome
fr	Syndrome d'isochromosomie yq
de	Isochromosom Yp
es	Síndrome de isocromosoma Yp
it	Sindrome isocromosomia Yp
nl	Isochromosomie Yp-syndroom
pt	Isocromossoma Yp
pl	Zespół izochromosomu Yp
cs	Izochromozom Yp
uk	Ізохромосома Yp
zh	短臂等臂Y染色体
tr	İzokromozomi Yp

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q98.6	NTBT	attributed	validated
MONDO	0020304	E		validated
UMLS	C4707793	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 (1):

ORPHA:96325Isochromosome Y syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

6 annotations · validated 2015-12-16

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000027	Azoospermia
HP:0008734	Decreased testicular size
HP:0003251	Male infertility
HP:0008193	Primary gonadal insufficiency
Frequent (79-30%)
HP:0000062	Ambiguous genitalia
HP:0000771	Gynecomastia

Run the differential on the 4 obligate / very frequent terms

Annotation source: 3972415[PMID]_1856945[PMID]_15749513[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/98797
This record as JSON: /data/d/98797.json