Split hand - split foot - deafness |
Kallmann syndrome |
DLX5 | CHD7 | |||
DUSP6 | ||||
FGF17 | ||||
FGF8 | ||||
FGFR1 | ||||
FLRT3 | ||||
HESX1 | ||||
HS6ST1 | ||||
IL17RD | ||||
KAL1 | ||||
KISS1R | ||||
NSMF | ||||
PROK2 | ||||
PROKR2 | ||||
SEMA3A | ||||
SOX10 | ||||
SPRY4 | ||||
TACR3 | ||||
WDR11 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
DLX5 | (0.65) | SOX10 | |
Citations in the biomedical literature:
Split hand - split foot - deafness |
Kallmann syndrome |
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Synonym(s): (no synonyms)
| Synonym(s): - Congenital hypogonadotropic hypogonadism with anosmia- Olfacto-genital pathological sequence | ||
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease | Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility | ||
Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
| Classification (ICD10): - Endocrine, nutritional and metabolic diseases -
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Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: unknown | 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: 1 OMIM reference -
No MeSH references | External references: 17 OMIM references - 1 MeSH reference: D017436 | ||
Kallmann syndrome | |
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 | |
Split hand - split foot - deafness | |
(no data available) |