Melanoma, and Lactic acidosis

Diseases related with Melanoma and Lactic acidosis

In the following list you will find some of the most common rare diseases related to Melanoma and Lactic acidosis that can help you solving undiagnosed cases.


Top matches:

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}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

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}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

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Other less relevant matches:

Low match SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3


SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 Is also known as skin/hair/eye pigmentation 3, light/dark skin|skin/hair/eye pigmentation 3, freckling|eye color 1|skin/hair/eye pigmentation 3, blue/green eye color|gey|eycl1|eye color, green/blue

Related symptoms:

  • Cutaneous melanoma


SOURCES: OMIM MENDELIAN

More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3

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 ).

Related symptoms:

  • Neoplasm
  • Melanoma
  • Cutaneous melanoma


SOURCES: OMIM MESH MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

Low match MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME


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.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

Low match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Low match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Top 5 symptoms//phenotypes associated to Melanoma and Lactic acidosis

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Metabolic acidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Melanoma and Lactic acidosis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hepatoblastoma Chronic pancreatitis Cognitive impairment Global developmental delay Generalized hypotonia Xanthelasma Intellectual disability Hepatic failure Enterocolitis Decreased glomerular filtration rate Muscular hypotonia Xanthomatosis Hematuria Hepatomegaly Gout Renal insufficiency Hypoglycemia Proteinuria Delayed puberty Hypertension Visual impairment Hyperlipidemia Focal segmental glomerulosclerosis Hepatocellular carcinoma Intellectual disability, profound Generalized-onset seizure Status epilepticus Polymicrogyria Cholestasis Bowing of the long bones Aciduria Abdominal distention Ventricular septal defect Short foot Postaxial hand polydactyly Skeletal dysplasia Micromelia Neurological speech impairment Joint stiffness Pallor Polyhydramnios Agenesis of corpus callosum Encephalopathy Hyperbilirubinemia Cerebral atrophy Respiratory insufficiency Anteverted nares Ventriculomegaly Short toe Polycythemia Aminoaciduria Psychomotor deterioration Feeding difficulties in infancy Hypertrophic cardiomyopathy Arrhythmia Congestive heart failure Cardiomyopathy Intrauterine growth retardation Feeding difficulties Open operculum Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Organic aciduria Lissencephaly Short tibia Synostosis of carpal bones Fibular hypoplasia Macrocephaly Aplasia/Hypoplasia of the thumb Tarsal synostosis Reduced subcutaneous adipose tissue Abnormality of the coagulation cascade Hypoplasia of the brainstem Sarcoma Relative macrocephaly Optic nerve hypoplasia Disproportionate short-limb short stature Hyperammonemia Frontal bossing Lipemia retinalis Optic atrophy Elevated hepatic transaminase Atherosclerosis Pancreatitis Nephrocalcinosis Nephrolithiasis Hypertriglyceridemia Epistaxis Hepatitis Full cheeks Abnormal bleeding Nephropathy Arthritis Carcinoma Osteopenia Chronic kidney disease Osteoporosis Recurrent respiratory infections Recurrent infections Diarrhea Myopathy Anemia Growth delay Short stature Ketonemia Spider hemangioma Pulmonary arterial hypertension Renal cell carcinoma Venous thrombosis Hypercalciuria Brachydactyly Microalbuminuria Depressed nasal bridge High palate Abnormal facial shape Failure to thrive Hypertelorism Microcephaly Hypocitraturia Hepatocellular adenoma Doll-like facies Distal renal tubular acidosis Chronic hepatitis Intermittent diarrhea Hypoglycemic seizures Elevated alkaline phosphatase Pyelonephritis Skeletal myopathy Fasting hypoglycemia Breathing dysregulation Neoplasm of the liver Enlarged kidney Protuberant abdomen Renal tubular acidosis Hyperuricemia Prolonged bleeding time Decreased muscle mass Portal hypertension Glomerulosclerosis Increased serum lactate



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