ORPHA:705

Pendred syndrome

Synonyms: Goiter-deafness syndrome · Goiter-hearing loss syndrome

A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Pendred syndrome	Goiter-deafness syndrome · Goiter-hearing loss syndrome
fr	Syndrome de Pendred	Syndrome de goitre-surdité
de	Pendred-Syndrom	Kropf - Schwerhörigkeit
es	Síndrome de Pendred	Síndrome de bocio-hipoacusia · Síndrome de bocio-sordera
it	Sindrome di Pendred	Gozzo - sordità
nl	Syndroom van Pendred	Struma - doofheid-syndroom · Struma - gehoorverlies-syndroom
pt	Síndrome Pendred	Síndrome de bócio-surdez
pl	Zespół Pendreda	Wole-głuchota
cs	Pendredův syndrom	Syndrom zahrnující strumu a hluchotu
uk	Синдром Пендреда	Синдром зобної глухоти · Синдром зобної приглухуватості
zh	Pendred综合征	甲状腺肿-听力丧失综合征
tr	Pendred sendromu	Guatr-sağırlık sendromu · Guatr-işitme kaybı sendromu

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	274600	E		validated
ICD-10	E07.1	NTBT	inclusion	validated
ICD-11	5A00.02	E	specific	validated
MONDO	0010134	E		validated
MeSH	C536648	E		validated
UMLS	C0271829	E		validated
GARD	4271	E		validated
MedDRA	10080398	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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases

No children.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FOXI1	Disease-causing germline mutation(s) in	Assessed	HGNC:3815	ENSG00000168269	601093	5q35.1	forkhead box I1	20301640[PMID]
KCNJ10	Disease-causing germline mutation(s) in	Assessed	HGNC:6256	ENSG00000177807	602208	1q23.2	potassium inwardly rectifying channel subfamily J member 10	20301640[PMID]
SLC26A4	Disease-causing germline mutation(s) in	Assessed	HGNC:8818	ENSG00000091137	605646	7q22.3	solute carrier family 26 member 4	20301640[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	7 / 100 000	Europe	Value and class	Validated	[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

15 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000359	Abnormality of the inner ear
HP:0011387	Enlarged vestibular aqueduct
HP:0008586	Hypoplasia of the cochlea
HP:0000407	Sensorineural hearing impairment
Frequent (79-30%)
HP:0000853	Goiter
HP:0000821	Hypothyroidism
Occasional (29-5%)
HP:0002167	Abnormality of speech or vocalization
HP:0001251	Ataxia
HP:0000843	Hyperparathyroidism
HP:0001249	Intellectual disability
HP:0000112	Nephropathy
HP:0002093	Respiratory insufficiency
HP:0002890	Thyroid carcinoma
HP:0002777	Tracheal stenosis
HP:0002321	Vertigo

Annotation source: 20537182[PMID]