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Hypothyroidism due to deficient transcription factors involved in pituitary development or function
5 associated genes
51 connected diseases
17 signs/symptoms
Disease Type of connection
Combined pituitary hormone deficiencies, genetic forms
Pituitary stalk interruption syndrome
Kallmann syndrome
Panhypopituitarism
Septo-optic dysplasia
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Short stature - pituitary and cerebellar defects - small sella turcica
Jeune syndrome
Saldino-Mainzer syndrome
Acute myeloid leukemia
Deafness - lymphedema - leukemia
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
Brachydactyly - elbow wrist dysplasia
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
17q12 microdeletion syndrome
Autosomal dominant nonsyndromic intellectual deficit
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Craniopharyngioma
Desmoid tumor
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Glucocorticoid resistance
Hepatocellular carcinoma, childhood-onset
Hypocalcemic vitamin D-resistant rickets
MURCS association
Pilomatrixoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Single ventricular septal defect
Situs inversus totalis
Tetralogy of Fallot
Autosomal recessive limb-girdle muscular dystrophy type 2G
Congenital lethal myopathy, Compton-North type
Dentatorubral pallidoluysian atrophy
Familial drusen
Familial isolated dilated cardiomyopathy
Lethal osteosclerotic bone dysplasia
Scalp-ear-nipple syndrome
Synovial sarcoma
Axenfeld anomaly
Axenfeld-Rieger syndrome
Familial atrial fibrillation
Peters anomaly
Rieger anomaly
Ring dermoid of cornea
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Sleep and vigilance disorders
- Umbilical hernia

Frequent
- Cleft lip and palate
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Septo-optic dysplasia
- Short stature / dwarfism / nanism