Melanoma, and Bradykinesia

Low match FAMILIAL MELANOMA

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

• Retinopathy
• Dry skin
• Nevus
• Abnormality of extrapyramidal motor function
• Abnormality of the hair

SOURCES: ORPHANET MENDELIAN

Low match TAY-SACHS DISEASE; TSD

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Ataxia

SOURCES: OMIM ORPHANET MENDELIAN

Low match XERODERMA PIGMENTOSUM

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

• Intellectual disability
• Seizures
• Short stature
• Hearing impairment
• Microcephaly

SOURCES: OMIM ORPHANET MENDELIAN

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

• Global developmental delay
• Short stature
• Hearing impairment
• Microcephaly
• Ataxia

SOURCES: OMIM MENDELIAN

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10

• Melanoma

SOURCES: OMIM MENDELIAN

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

• Neoplasm
• Melanoma

SOURCES: OMIM MENDELIAN

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

• Neoplasm
• Melanoma

SOURCES: OMIM MENDELIAN

Low match PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13

• Tremor
• Rigidity
• Bradykinesia
• Parkinsonism with favorable response to dopaminergic medication

SOURCES: MESH OMIM MENDELIAN

Low match PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5

• Tremor
• Rigidity
• Postural instability
• Bradykinesia
• Resting tremor

SOURCES: OMIM MENDELIAN

Low match PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11

• Rigidity
• Postural instability
• Bradykinesia
• Resting tremor
• Parkinsonism with favorable response to dopaminergic medication

SOURCES: MESH OMIM MENDELIAN