| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Xeroderma pigmentosum |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Ocular albinism-lentigines-deafness syndrome |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| albinoïdisme |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Peutz-Jeghers syndrome |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Oculocutaneous albinism |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Multiple lentigines syndrome |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Reticulate acropigmentation of Kitamura |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Legius syndrome |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated. |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Hereditary benign acanthosis nigricans |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Hereditary benign acanthosis nigricans with insulin resistance |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Centrofacial lentiginosis syndrome |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Hereditary hypermelanosis (disorder) |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| albinisme oculaire avec surdité neurosensorielle congénitale |
Is a |
False |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Inherited cutaneous hyperpigmentation |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Phylloid hypomelanosis (disorder) |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare mosaic form of Legius syndrome with findings typical of Legius syndrome, namely multiple cafe-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicism and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occurring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects. These include pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
| Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. |
Is a |
True |
Genetic disorder of skin pigmentation (disorder) |
Inferred relationship |
Some |
|
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