hypogonadotropic hypogonadism 7 with or without anosmia

Summary
Definition
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
Super Class
autosomal recessive disease hypogonadotropic hypogonadism
Related Genes
Displaying entries 11 - 20 of 25 in total
Gene ID Gene Symbol Description Source
2619 GAS1 growth arrest specific 1
2710 GK glycerol kinase
2817 GPC1 glypican 1
3293 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
3897 L1CAM L1 cell adhesion molecule
4594 MMUT methylmalonyl-CoA mutase
4907 NT5E 5'-nucleotidase ecto
5373 PMM2 phosphomannomutase 2
6296 ACSM3 acyl-CoA synthetase medium chain family member 3
6646 SOAT1 sterol O-acyltransferase 1
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q8IY17 Patatin-like phospholipase domain-containing protein 6
The Human Phenotype Ontology
Displaying entries 1 - 10 of 36 in total
HPO ID HPO Term
HP:0000786 Primary amenorrhea
HP:0008527 Congenital sensorineural hearing impairment
HP:0000118 Phenotypic abnormality
HP:0002750 Delayed skeletal maturation
HP:0000027 Azoospermia
HP:0005280 Depressed nasal bridge
HP:0000316 Hypertelorism
HP:0012385 Camptodactyly
HP:0000938 Osteopenia
HP:0000013 Hypoplasia of the uterus
Displaying 1 entry
Gene ID Gene Symbol Description
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1

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Last updated: August 19, 2024