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Combined pituitary hormone deficiencies, genetic forms
4 OMIM references -
5 associated genes
73 connected diseases
No signs/symptoms info
Disease Type of connection
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Septo-optic dysplasia
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Kallmann syndrome
Panhypopituitarism
Pituitary stalk interruption syndrome
Agnathia - holoprosencephaly - situs inversus
Isolated anophthalmia - microphthalmia
Syndromic microphthalmia type 5
Acute myeloid leukemia
Deafness - lymphedema - leukemia
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
MURCS association
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Brachydactyly - elbow wrist dysplasia
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Melanoma of soft part
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Glucocorticoid resistance
Hepatocellular carcinoma, childhood-onset
Hypocalcemic vitamin D-resistant rickets
Medulloblastoma with extensive nodularity
Pilomatrixoma
Spinocerebellar ataxia type 1
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Dedifferentiated liposarcoma
Familial melanoma
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Well-differentiated liposarcoma
1p36 deletion syndrome
Shprintzen-Goldberg syndrome
Congenital lethal myopathy, Compton-North type
Dentatorubral pallidoluysian atrophy
Familial drusen
Lethal osteosclerotic bone dysplasia
Scalp-ear-nipple syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Axenfeld anomaly
Axenfeld-Rieger syndrome
Clear cell renal carcinoma
Familial atrial fibrillation
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Peters anomaly
Rieger anomaly
Ring dermoid of cornea
Tietz syndrome
Waardenburg syndrome type 2
Synonym(s):
- Familial congenital hypopituitarism
- Multiple pituitary hormone deficiencies, genetic forms
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.