Gene Role Disease OMIM Descriptions Sources
APCDD1 causing HYPT1 605389 The disease is caused by mutations affecting the gene represented in this entry. A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. [read more] 20393562
CDH3 causing HJMD 601553 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. [read more] 11544476
12445216
CDSN causing HYPT2 146520 The disease is caused by mutations affecting the gene represented in this entry. A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. [read more] 12754508
CLDN1 causing NISCH 607626 The disease is caused by mutations affecting the gene represented in this entry. A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization. [read more] 15521008
16619213
DSC3 causing HRSV 613102 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. [read more] 19765682
DSG4 causing HYPT6 607903 The disease is caused by mutations affecting the gene represented in this entry. A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. [read more] 15191570
EDA causing XHED 305100 The disease is caused by mutations affecting the gene represented in this entry. A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. [read more] 8696334
9683615
9736768
11309369
11416205
9630076
9507389
10469321
10951256
11343303
11378824
11295832
11279189
12225002
12932274
17256800
18231121
19438931
19127222
20486090
20979233
22008666
22350046
EDAR causing ECTD10A 129490 The disease is caused by mutations affecting the gene represented in this entry. A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. [read more] 10431241
18231121
EDAR causing ECTD10B 224900 The disease is caused by mutations affecting the gene represented in this entry. A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [read more] 10431241
18231121
15373768
16029325
16435307
19438931
20979233
EDARADD causing ECTD11A 614940 The disease is caused by mutations affecting the gene represented in this entry. A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. [read more] 17354266
20979233