Gene Role Disease OMIM Descriptions Sources
HPS5 causing HPS5 614074 The disease is caused by mutations affecting the gene represented in this entry. A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. [read more] 15296495
12548288
HPS6 causing HPS6 614075 The disease is caused by mutations affecting the gene represented in this entry. A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. [read more] 17041891
12548288
HPSE2 causing UFS1 236730 The disease is caused by mutations affecting the gene represented in this entry. A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. [read more] 20560210
20560209
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
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
HSPD1 causing HLD4 612233 The disease is caused by mutations affecting the gene represented in this entry. A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurs within the first two decades of life. [read more] 18571143
HSPD1 causing SPG13 605280 The disease is caused by mutations affecting the gene represented in this entry. A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [read more] 11898127
HSPG2 causing DDSH 224410 The disease is caused by mutations affecting the gene represented in this entry. The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. [read more] 11279527
HSPG2 causing SJS1 255800 The disease is caused by mutations affecting the gene represented in this entry. Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. [read more] 11101850