ORPHA:632

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
fr	Petite taille par déficit isolé en hormone de croissance associé à une hypogammaglobulinémie liée à l'X
de	Kleinwuchs durch isolierten Wachstumshormonmangel mit X-chromosomaler Hypogammaglobulinämie
es	Talla baja por deficiencia aislada de hormona de crecimiento asociado a hipogammaglobulinemia ligada al cromosoma X
it	Bassa statura da deficit isolato dell'ormone della crescita associato a ipogammaglobulinemia legata all'X
nl	Kleine gestalte als gevolg van geïsoleerde groeihormoondeficiëntie met X-gebonden hypogammaglobulinemie
pt	Baixa estatura por deficiência de hormona do crescimento isolada com hipogamaglobulinemia ligada ao X
pl	Niski wzrost spowodowany izolowanymniedoborem hormonu wzrostu z hipogammaglobulinemią sprzeżoną z chromosomem X
cs	Malý vzrůst způsobený izolovaným deficitem růstového hormonu s X-vázanou hypogamaglobulinémií
uk	Низькорослість внаслідок ізольованого дефіциту гормону росту з Х-зчепленою гіпогаммаглобулінемією
zh	孤立型生长激素缺乏伴X-连锁低丙球蛋白血症所致身材矮小
tr	X'e bağlı hipogamaglobulinemi ile izole büyüme hormonu eksikliğine bağlı kısa boy

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	307200	E		validated
ICD-10	E23.0	NTBT	attributed	validated
ICD-11	4A01.00	NTBT	index	validated
MONDO	0018967	E		validated
UMLS	C0472813	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:231692Isolated growth hormone deficiency type III
rare genetic diseases; rare endocrine diseases
ORPHA:229720Syndromic agammaglobulinemia
rare genetic diseases; rare immunological diseases

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BTK	Disease-causing germline mutation(s) in	Assessed	HGNC:1133	ENSG00000010671	300300	Xq22.1	Bruton tyrosine kinase	8013627[PMID]_9554752[PMID]_22139958[PMID]
ELF4	Disease-causing germline mutation(s) in	Assessed	HGNC:3319	ENSG00000102034	300775	Xq26.1	E74 like ETS transcription factor 4	18180883[PMID]

0 records

No prevalence record in this release.

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