Anemia, and High palate

Diseases related with Anemia and High palate

In the following list you will find some of the most common rare diseases related to Anemia and High palate that can help you solving undiagnosed cases.


Top matches:

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Low match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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Other less relevant matches:

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Low match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION


FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Top 5 symptoms//phenotypes associated to Anemia and High palate

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and High palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Microcephaly Ataxia Low-set ears Neutropenia Feeding difficulties Hemolytic anemia Hearing impairment Epicanthus Acidosis Brachydactyly

Rare Symptoms - Less than 30% cases


Myopathy Encephalopathy Tetraparesis Exercise intolerance Gastroesophageal reflux Myoclonus Muscular hypotonia Scoliosis Thrombocytopenia Dysarthria Thin upper lip vermilion Increased serum lactate Pancytopenia Abnormality of eye movement Cerebral atrophy Growth delay Vomiting Respiratory tract infection Respiratory insufficiency Lactic acidosis Recurrent infections Narrow palpebral fissure Sensorineural hearing impairment Conductive hearing impairment Leukopenia Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Atopic dermatitis Hypertonia Combined immunodeficiency Dystonia Glomerulonephritis Dilatation Pectus excavatum Agenesis of corpus callosum Neonatal hypotonia Severe global developmental delay Spastic diplegia Severe combined immunodeficiency Recurrent skin infections Unsteady gait Metabolic acidosis Coma Spastic tetraplegia Progressive neurologic deterioration Broad-based gait Trigonocephaly Partial agenesis of the corpus callosum Spastic paraplegia Abnormal facial shape Respiratory distress Stroke-like episode Pallor Stroke Delayed puberty Autoimmune neutropenia Progressive muscle weakness Vasculitis in the skin EMG abnormality Ragged-red muscle fibers Microcytic anemia Increased serum ferritin Mitochondrial myopathy Membranoproliferative glomerulonephritis Vasculitis Distichiasis Sideroblastic anemia Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Generalized limb muscle atrophy Chronic lactic acidosis Hypertelorism Allergic rhinitis Optic atrophy Ventriculomegaly Difficulty running Poor coordination Lipoma Tachypnea Abnormality of the liver Cough Recurrent respiratory infections Cirrhosis Hepatic steatosis Ascites Oligohydramnios Cholestasis Abnormal lung morphology Decreased liver function Hypocalcemia Hyporeflexia Abnormality of the eye Hypoalbuminemia Portal hypertension Immunodeficiency Rickets Interstitial pulmonary abnormality Bile duct proliferation Abnormality of the skeletal system Cognitive impairment Vitamin D deficiency Anasarca Vitamin A deficiency Abnormality of the nervous system Joint laxity Small scrotum Sensory impairment Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Increased serum pyruvate Hyperalaninemia Lymphopenia Bronchiectasis Decreased activity of the pyruvate dehydrogenase complex Inflammatory abnormality of the skin Eczema Lymphoma Periventricular cysts Elevated hepatic transaminase Subependymal cysts Projectile vomiting Poor gross motor coordination Hypertension Intrauterine growth retardation Asthma Hernia Inguinal hernia Erythema Osteopenia Hypoglycemia Deeply set eye Glaucoma Mild global developmental delay Abnormality of metabolism/homeostasis Retinal dystrophy Delayed speech and language development Fatigue Splenomegaly Renal insufficiency Visual loss Rod-cone dystrophy Jaundice Hepatosplenomegaly Myalgia Mental deterioration Paralysis Muscular dystrophy Muscle cramps Bilateral conductive hearing impairment Migraine Hyperbilirubinemia Purpura Spastic tetraparesis Hemiplegia Emotional lability Aphasia Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Pain Increased number of teeth Increased muscle fatiguability Prominent eyelashes Prominent nasal bridge Synophrys Infertility Bilateral sensorineural hearing impairment Azoospermia Progressive sensorineural hearing impairment Male infertility Anemia of inadequate production Congenital hypoplastic anemia Abnormal spermatogenesis Reduced sperm motility Moderate hearing impairment Cleft palate Flat occiput Motor delay Depressed nasal bridge Intellectual disability, mild Brachycephaly Autism Abnormality of the pinna Autistic behavior Thick eyebrow Highly arched eyebrow Single transverse palmar crease Bifid uvula Long eyelashes Brittle hair Decreased mean corpuscular volume Recurrent myoglobinuria Long philtrum Exocrine pancreatic insufficiency Constipation High myopia Rhizomelia Severe muscular hypotonia Genu varum Laryngomalacia Metaphyseal widening Metaphyseal irregularity Mild short stature Neurodevelopmental delay Steatorrhea Metaphyseal dysplasia Severe failure to thrive Myopia Prolonged partial thromboplastin time Prolonged prothrombin time Normocytic anemia Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Micrognathia Muscle weakness Ptosis Edema Kyphosis Short nose Diarrhea Cystathioninemia Exercise-induced muscle cramps Incoordination Exercise-induced myoglobinuria Abnormal heart morphology Arthritis Feeding difficulties in infancy Developmental regression Skin rash Microtia Small for gestational age Lethargy Aciduria Abnormality of the skin Psychosis Rheumatoid arthritis Cystathioninuria Macrocytic anemia Megaloblastic anemia Juvenile rheumatoid arthritis Stomatitis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Glossitis Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methionine synthase activity Cortical myoclonus



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