Cytoscape Web
Click node...

Kallmann syndrome
17 OMIM references -
19 associated genes
128 connected diseases
44 signs/symptoms
Disease Type of connection
Normosmic congenital hypogonadotropic hypogonadism
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
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
CHARGE syndrome
Neurologic Waardenburg-Shah syndrome
Omenn syndrome
Pituitary stalk interruption syndrome
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
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
Isolated brachycephaly
Isolated plagiocephaly
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Hypochondroplasia
Isolated cloverleaf skull syndrome
Muenke syndrome
Noonan syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Distal 22q11.2 microdeletion syndrome
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
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
Autosomal recessive primary microcephaly
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
Split hand - split foot - deafness
Agnathia - holoprosencephaly - situs inversus
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant keratitis
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant secondary polycythemia
B-cell chronic lymphocytic leukemia
Budd-Chiari syndrome
Craniopharyngioma
Desmoid tumor
Essential thrombocythemia
Familial gastric cancer
Familial thrombocytosis
Foveal hypoplasia - presenile cataract
Frontonasal dysplasia with alopecia and genital anomaly
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Hypercalcemic tumoral calcinosis
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Isolated Klippel-Feil syndrome
Isolated aniridia
Isolated optic nerve hypoplasia
Isolated scaphocephaly
Lethal congenital contracture syndrome type 2
Morning glory syndrome
Multiple paragangliomas associated with polycythemia
Myelofibrosis with myeloid metaplasia
Parietal foramina
Peters anomaly
Pilomatrixoma
Polycythemia vera
Potocki-Shaffer syndrome
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
WAGR syndrome
Familial partial lipodystrophy associated with PPARG mutations
Cherubism
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Multiple synostoses syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Deafness with labyrinthine aplasia, microtia, and microdontia
Dejerine-Sottas syndrome
Extraskeletal myxoid chondrosarcoma
Hereditary gingival fibromatosis
Inherited acute myeloid leukemia
Oculootodental syndrome
Otodental syndrome
Panhypopituitarism
Autosomal recessive lymphoproliferative disease
Synonym(s):
- Congenital hypogonadotropic hypogonadism with anosmia
- Olfacto-genital pathological sequence
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: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
17 OMIM references -
1 MeSH reference: D017436
Very frequent
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Impotence / painful erection / priapism / erection troubles
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Sterility / hypofertility
- X-linked recessive inheritance

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Breast tissue / mammary gland absence / aplasia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Primary amenorrhea
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormal gait
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Ataxia / incoordination / trouble of the equilibrium
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Dyspareunia / coital pain / vaginal dryness
- Elocution disorders / dysarthria / dysphonia
- Generalized obesity
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Movement disorder
- Muscle weakness / flaccidity
- Mutiple fractures / bone fragility
- Nystagmus
- Pes cavus
- Pes talus
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Tremor
- Uterine / uterus / Fallopian tubes anomalies
- Visual loss / blindness / amblyopia