Anemia, and Ventricular hypertrophy

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

• Anemia
• Atrial septal defect
• Immunodeficiency
• Lymphadenopathy
• Hemolytic anemia

SOURCES: OMIM ORPHANET MENDELIAN

Low match HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

• Short stature
• Hearing impairment
• Sensorineural hearing impairment
• Anemia
• Hepatomegaly

SOURCES: ORPHANET MENDELIAN

Low match TANGIER DISEASE

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

• Anemia
• Thrombocytopenia
• Abdominal pain
• Hepatosplenomegaly
• Distal muscle weakness

SOURCES: ORPHANET MENDELIAN

Low match HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.

HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME Is also known as hupra syndrome

• Global developmental delay
• Generalized hypotonia
• Failure to thrive
• Anemia
• Feeding difficulties

SOURCES: OMIM ORPHANET MENDELIAN

Low match MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

• Generalized hypotonia
• Scoliosis
• Growth delay
• Nystagmus
• Failure to thrive

SOURCES: OMIM MENDELIAN

Low match TETRALOGY OF FALLOT

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

• Growth delay
• Muscle weakness
• Cryptorchidism
• Anemia
• Brachydactyly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

• Seizures
• Short stature
• Muscle weakness
• Cognitive impairment
• Anemia

SOURCES: ORPHANET OMIM MENDELIAN

Low match TRANSALDOLASE DEFICIENCY

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

• Global developmental delay
• Growth delay
• Failure to thrive
• Abnormal facial shape
• Low-set ears

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

• Short stature
• Growth delay
• Muscle weakness
• Ptosis
• Anemia

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match BLACKFAN-DIAMOND ANEMIA

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

• Short stature
• Growth delay
• Hypertelorism
• Neoplasm
• Failure to thrive

SOURCES: ORPHANET OMIM MENDELIAN