ORPHA:226307

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Infancy
Status: active

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
fr	Hypothyroïdie par déficit en facteurs de transcription impliqués dans le développement ou la fonction hypophysaire
de	Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Hypophyse
es	Hipotiroidismo por factores de transcripción deficientes implicados en el desarrollo o función de la hipófisis
it	Ipotiroidismo da deficit dei fattori di trascrizione implicati nello sviluppo o nella funzione ipofisaria
nl	Hypothyreoïdie door deficiëntie van transcriptiefactoren betrokken bij ontwikkeling of functie van hypofyse
pt	Hipotiroidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise
pl	Niedoczynność tarczycy z powodu niedoboru czynników transkrypcyjnych zaangażowanych w rozwój lub funkcjonowanie przysadki
cs	Hypotyreóza způsobená deficitem transkripčních faktorů zahrnutých ve vývoji nebo funkci hypofýzy
uk	Гіпотиреоз, спричинений дефіцитом транскрипційних факторів, що беруть участь у розвитку або функції гіпофіза
zh	垂体发育或功能相关的转录因子缺陷所致甲状腺功能减退症
tr	Hipofiz gelişimi veya işlevi ile ilgili transkripsiyon faktörlerinin eksikliğine bağlı hipotiroidi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	E03.1	NTBT	attributed	validated
ICD-11	5A00.01	NTBT	index	validated
MONDO	0016411	E		validated
UMLS	C4273672	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:97978Rare endocrine disease

Parents in the classifications (1):

ORPHA:226298Central congenital hypothyroidism
rare genetic diseases; rare endocrine diseases

No children.

Genes

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HESX1	Disease-causing germline mutation(s) in	Assessed	HGNC:4877	ENSG00000163666	601802	3p14.3	HESX homeobox 1	20537182[PMID]_22851492[PMID]
LHX3	Disease-causing germline mutation(s) in	Assessed	HGNC:6595	ENSG00000107187	600577	9q34.3	LIM homeobox 3	20537182[PMID]_22851492[PMID]
LHX4	Disease-causing germline mutation(s) in	Assessed	HGNC:21734	ENSG00000121454	602146	1q25.2	LIM homeobox 4	20537182[PMID]_22851492[PMID]
POU1F1	Disease-causing germline mutation(s) in	Assessed	HGNC:9210	ENSG00000064835	173110	3p11.2	POU class 1 homeobox 1	20537182[PMID]_22851492[PMID]
PROP1	Disease-causing germline mutation(s) in	Assessed	HGNC:9455	ENSG00000175325	601538	5q35.3	PROP paired-like homeobox 1	20537182[PMID]_22851492[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

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

HPO phenotypes

51 annotations · validated 2021-06-14

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0031098	Decreased thyroid-stimulating hormone level
HP:0008245	Pituitary hypothyroidism
HP:0031219	Reduced radioactive iodine uptake
Frequent (79-30%)
HP:0005930	Abnormality of epiphysis morphology
HP:0010627	Anterior pituitary hypoplasia
HP:0001662	Bradycardia
HP:0002019	Constipation
HP:0031507	Decreased circulating thyroxine level
HP:0000270	Delayed cranial suture closure
HP:0008828	Delayed proximal femoral epiphyseal ossification
HP:0000282	Facial edema
HP:0012378	Fatigue
HP:0008872	Feeding difficulties in infancy
HP:0001510	Growth delay
HP:0040075	Hypopituitarism
HP:0001265	Hyporeflexia
HP:0002045	Hypothermia
HP:0004491	Large posterior fontanelle
HP:0001254	Lethargy
HP:0000158	Macroglossia
HP:0012758	Neurodevelopmental delay
HP:0000871	Panhypopituitarism
HP:0006579	Prolonged neonatal jaundice
HP:0008202	Reduced circulating prolactin concentration
HP:0005990	Thyroid hypoplasia
HP:0001537	Umbilical hernia
Occasional (29-5%)
HP:0001317	Abnormal cerebellum morphology
HP:0001999	Abnormal facial shape
HP:0001274	Agenesis of corpus callosum
HP:0004637	Decreased cervical spine mobility
HP:0002920	Decreased circulating ACTH level
HP:0030341	Decreased circulating follicle stimulating hormone concentration
HP:0030344	Decreased circulating luteinizing hormone level
HP:0000824	Decreased response to growth hormone stimulation test
HP:0005280	Depressed nasal bridge
HP:0011755	Ectopic posterior pituitary
HP:0001161	Hand polydactyly
HP:0001943	Hypoglycemia
HP:0000044	Hypogonadotropic hypogonadism
HP:0001252	Hypotonia
HP:0031218	Inappropriate antidiuretic hormone secretion
HP:0011800	Midface retrusion
HP:0000609	Optic nerve hypoplasia
HP:0025502	Overweight
HP:0000839	Pituitary dwarfism
HP:0011220	Prominent forehead
HP:0000407	Sensorineural hearing impairment
HP:0009381	Short finger
HP:0000470	Short neck
Excluded (0%)
HP:0025483	Abnormal circulating thyroglobulin concentration
HP:0011437	Maternal autoimmune disease

Run the differential on the 3 obligate / very frequent terms

Annotation source: 25231446[PMID]_28549061[PMID]_26416826[PMID]_20537182[PMID]_30374425[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/226307
This record as JSON: /data/d/226307.json