Peripheral neuropathy, and Splenomegaly

Low match HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

• Intellectual disability
• Ataxia
• Muscle weakness
• Anemia
• Edema

SOURCES: OMIM ORPHANET MENDELIAN

Low match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1 Is also known as basd1|3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency

• Failure to thrive
• Peripheral neuropathy
• Hepatomegaly
• Diarrhea
• Splenomegaly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

• Intellectual disability
• Global developmental delay
• Ataxia
• Muscle weakness
• Spasticity

SOURCES: ORPHANET OMIM MENDELIAN

Low match LYMPHOMA, HODGKIN, CLASSIC; CHL

Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

• Ataxia
• Neoplasm
• Peripheral neuropathy
• Hepatomegaly
• Fever

SOURCES: OMIM ORPHANET MENDELIAN

Low match AMYLOIDOSIS, FAMILIAL VISCERAL

AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

• Hearing impairment
• Neoplasm
• Pain
• Hypertension
• Peripheral neuropathy

SOURCES: ORPHANET OMIM MENDELIAN

Low match ESSENTIAL THROMBOCYTHEMIA

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

ESSENTIAL THROMBOCYTHEMIA Is also known as thrombocytosis 1|essential thrombocytosis|et

• Pain
• Hypertension
• Hepatomegaly
• Abnormality of the skeletal system
• Respiratory distress

SOURCES: ORPHANET OMIM MENDELIAN

Low match FAMILIAL THROMBOCYTOSIS

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

• Seizures
• Dysarthria
• Splenomegaly
• Headache
• Hyperhidrosis

SOURCES: ORPHANET MENDELIAN

Low match SÉZARY SYNDROME

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

• Neoplasm
• Abnormal facial shape
• Peripheral neuropathy
• Hepatomegaly
• Fever

SOURCES: MESH ORPHANET MENDELIAN

Low match MCLEOD SYNDROME; MCLDS

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

• Seizures
• Muscle weakness
• Cognitive impairment
• Anemia
• Peripheral neuropathy

SOURCES: MESH OMIM MENDELIAN

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

• Peripheral neuropathy
• Hepatomegaly
• Fatigue
• Cardiomyopathy
• Congestive heart failure

SOURCES: ORPHANET MENDELIAN