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Normosmic congenital hypogonadotropic hypogonadism
19 OMIM references -
18 associated genes
100 connected diseases
No signs/symptoms info
Disease Type of connection
Kallmann syndrome
Septo-optic dysplasia
Pfeiffer syndrome type 1
Giant cell glioblastoma
Gliosarcoma
Pilocytic astrocytoma
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Myeloid neoplasm associated with FGFR1 rearrangement
Oligodontia
Osteoglophonic dwarfism
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
CHARGE syndrome
Omenn syndrome
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Saethre-Chotzen syndrome
Coffin-Siris syndrome
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Muenke syndrome
Noonan syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Distal 22q11.2 microdeletion syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Coffin-Lowry syndrome
X-linked non-syndromic intellectual deficit
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Familial multiple meningioma
Familial rhabdoid tumor
Isolated anophthalmia - microphthalmia
LEOPARD syndrome
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
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Budd-Chiari syndrome
Craniopharyngioma
Desmoid tumor
Essential thrombocythemia
Familial dysautonomia
Familial gastric cancer
Familial thrombocytosis
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Hypercalcemic tumoral calcinosis
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Johanson-Blizzard syndrome
Lethal congenital contracture syndrome type 2
Myelofibrosis with myeloid metaplasia
Pilomatrixoma
Polycythemia vera
Early-onset autosomal dominant Alzheimer disease
Familial partial lipodystrophy associated with PPARG mutations
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
Cherubism
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metaphyseal anadysplasia
Multiple synostoses syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Hereditary gingival fibromatosis
Oculootodental syndrome
Otodental syndrome
Autosomal recessive lymphoproliferative disease
Synonym(s):
- Gonadotropic deficiency
- Isolated congenital gonadotropin deficiency
- nIHH
- normosmic idiopathic hypogonadotropic hypogonadism
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: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
19 OMIM references -
No MeSH references
No signs/symptoms info available.