Melanoma, and Generalized seizures

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

• Autosomal dominant inheritance
• Neoplasm
• Adult onset
• Melanoma

SOURCES: MONDO UMLS OMIM

Low match MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS

Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, {155600}), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (OMIM ), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012).Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).

MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS Is also known as giant pigmented hairy nevus;gphn, giant congenital pigmented nevus, pigmented moles;congenital pigmented nevus; gmn; giant congenital melanocytic nevus; giant pigmented hairy nevus; lcmn

• Autosomal dominant inheritance
• Seizures
• Pica
• Hypertelorism
• Failure to thrive

SOURCES: OMIM NCIT SCTID ORPHANET

Low match MELANOSIS, NEUROCUTANEOUS; NCMS

Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS ). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).

MELANOSIS, NEUROCUTANEOUS; NCMS Is also known as neuromelanosis;ncm; neurocutaneous melanosis

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: GARD MESH UMLS ORPHANET OMIM MONDO

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 gm2-gangliosidosis, type i, b variant gm2-gangliosidosis, hexosaminidase a deficiency, hexa deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: MONDO OMIM ICD10 ORPHANET

Low match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Hearing impairment

SOURCES: OMIM UMLS ORPHANET MONDO

Low match LYMPHANGIOLEIOMYOMATOSIS; LAM

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS; LAM Is also known as lymphangiomyomatosis;lam

• Seizures
• Pica
• Cognitive impairment
• Neoplasm
• Pain

SOURCES: SCTID COHD EFO ICD10 NCIT ORPHANET MESH GARD OMIM DOID MONDO

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 xp

• Seizures
• Short stature
• Hearing impairment
• Microcephaly
• Ataxia

SOURCES: ORPHANET ICD10 UMLS

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

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 CMM1 (OMIM ).

• Autosomal dominant inheritance
• Cutaneous melanoma

SOURCES: NCIT EFO UMLS MONDO OMIM MESH DOID

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8

MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 Is also known as melanoma and renal cell carcinoma, susceptibility to;

• Autosomal dominant inheritance
• Renal cell carcinoma
• Cutaneous melanoma

SOURCES: OMIM UMLS ORPHANET

Low match COWDEN SYNDROME 1; CWS1

Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS ) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008).Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015).Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. Genetic Heterogeneity of Cowden SyndromeAlso see Cowden syndrome-2 (CWS2 ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; CWS3 (OMIM ), caused by mutation in the SDHD gene (OMIM ) on chromosome 11q23; CWS4 (OMIM ), caused by hypermethylation of the promoter of the KLLN gene (OMIM ), which shares the same transcription site as the PTEN gene, on chromosome 10q23; CWS5 (OMIM ), caused by mutation in the PIK3CA gene (OMIM ) on chromosome 3q26; CWS6 (OMIM ), caused by mutation in the AKT1 gene (OMIM ) on chromosome 14q32; and CWS7 (OMIM ), caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11.

COWDEN SYNDROME 1; CWS1 Is also known as cs;cd, multiple hamartoma syndrome;mham;cowden disease; multiple hamartoma syndrome

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: NCIT OMIM ORPHANET MONDO