Gene Role Disease OMIM Descriptions Sources
HR causing APL 209500 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. [read more]
HR causing HYPT4 146550 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. [read more] 19122663
HRAS causing FCSS 218040 The disease is caused by mutations affecting the gene represented in this entry. A rare condition characterized by prenatally increased growth, postnatal growth deficiency, mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. [read more] 15546861
16170316
16329078
16443854
17054105
18247425
18039947
19995790
HRAS causing SFM 163200 The disease is caused by mutations affecting the gene represented in this entry. A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. [read more] 22683711
HRG causing THPH11 613116 The disease is caused by mutations affecting the gene represented in this entry. A hemostatic disorder characterized by a tendency to thrombosis. [read more] 9414276
11057869
HS6ST1 causing HH15 614880 The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). [read more] 21700882
HSD11B2 causing AME 218030 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. [read more] 12788846
17314322
7593417
7608290
7670488
9398712
9683587
9661590
9851783
10489390
10523339
11238516
HSD17B10 pathogenesis MRX17 300705 The gene represented in this entry is involved in disease pathogenesis. A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [read more] 18252223
HSD17B10 causing MRXS10 300220 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS10 patients manifest mild mental retardation, choreoathetosis and abnormal behavior. [read more] 17236142
HSD17B4 causing PRLTS1 233400 The disease is caused by mutations affecting the gene represented in this entry. A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement. [read more] 20673864