Failure to thrive, and Pallor

Diseases related with Failure to thrive and Pallor

In the following list you will find some of the most common rare diseases related to Failure to thrive and Pallor that can help you solving undiagnosed cases.

Top matches:

cblD 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 variable biochemical, neurological and hematological manifestations.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld|methylmalonic aciduria with homocystinuria, type cbld|cbld defect|cobalamin d defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

cblC 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 CBLC Is also known as methylmalonic aciduria with homocystinuria, type cblc|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc|cobalamin c defect|cblc defect

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Fatigue
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY Is also known as gsd 0a|gsd type 0a|glycogen storage disease type 0a|glycogen storage disease due to liver glycogen synthase deficiency|glycogenosis type 0a|hypoglycemia with deficiency of glycogen synthetase in the liver|gsd due to hepatic glycogen synthase deficiency|li

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY

Other less relevant matches:

High match BETA-THALASSEMIA

Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

High match RAMON SYNDROME

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

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

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Top 5 symptoms//phenotypes associated to Failure to thrive and Pallor

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Lethargy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anemia Irritability Cerebellar atrophy Ataxia Acidosis Muscle weakness Growth delay Nystagmus Short stature Retinopathy Megaloblastic bone marrow Microcephaly Anorexia

Rare Symptoms - Less than 30% cases

Muscular hypotonia Hypogonadotrophic hypogonadism Microcytic anemia Hypochromic anemia Hearing impairment Scoliosis Sensorineural hearing impairment Kyphosis Pigmentary retinopathy Encephalopathy Edema Jaundice Delayed puberty Generalized hypotonia Behavioral abnormality Peripheral neuropathy Hypoglycemia Areflexia Cerebral cortical atrophy Retinal degeneration Vomiting Hepatosplenomegaly Gait disturbance Hepatomegaly Hyperlipidemia Increased serum lactate Elevated hepatic transaminase Hyperglycemia Diarrhea Splenomegaly Feeding difficulties Obesity Alopecia Frontal bossing Rod-cone dystrophy Hypogonadism Micropenis Gait ataxia Hypothyroidism Severe short stature Small for gestational age Sparse hair Distal muscle weakness Cryptorchidism Spastic paraplegia Paraplegia Peripheral axonal neuropathy Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Growth hormone deficiency Hypoplasia of penis Sparse scalp hair Cognitive impairment Thrombocytopenia Hypomethioninemia Megaloblastic anemia Poor eye contact Central apnea Demyelinating peripheral neuropathy Vegetative state Respiratory distress Dystonia Abnormality of the nervous system Aciduria Dehydration Intracranial hemorrhage Increased mean corpuscular volume Decreased methylmalonyl-CoA mutase activity Methylmalonic aciduria Spastic ataxia Homocystinuria Enterocolitis Methylmalonic acidemia Hyperhomocystinemia Decreased methylcobalamin Decreased methionine synthase activity Long eyelashes Decreased adenosylcobalamin Clumsiness Sensory axonal neuropathy Gynecomastia Hyperlipoproteinemia Glucose intolerance Steatorrhea Episodic abdominal pain Peripheral arterial stenosis Acanthocytosis Peritonitis Impaired proprioception Foam cells Precocious atherosclerosis Hypocholesterolemia Chills EMG: myopathic abnormalities Acute pancreatitis Hypersplenism Intestinal bleeding Chronic pancreatitis Eruptive xanthomas Recurrent pancreatitis Lipemia retinalis Increased circulating chylomicron concentration Pancreatic calcification Increased hepatocellular lipid droplets Abnormality of vitamin metabolism Back pain Hypercholesterolemia Horizontal nystagmus Visual impairment Athetosis Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Central heterochromia Pain Depressivity Atherosclerosis Dementia Hyperhidrosis Abdominal pain Skin rash Nausea and vomiting Nausea Hepatic steatosis Abdominal distention Memory impairment Hypertriglyceridemia Pancreatitis Muscle fibrillation Generalized-onset seizure Progressive hearing impairment Telangiectasia Hyperkeratosis Conductive hearing impairment Arthritis Abnormality of skin pigmentation Delayed eruption of teeth Full cheeks Ketotic hypoglycemia Optic disc pallor Hypertrichosis Decreased body weight Abnormality of retinal pigmentation Elevated plasma branched chain amino acids Generalized hirsutism Narrow palate Abnormality of dental enamel Osteolysis Rheumatoid arthritis Telangiectasia of the skin Juvenile rheumatoid arthritis Gingival fibromatosis Abnormal anterior chamber morphology Angiokeratoma Diabetes mellitus Hydrocephalus Enlarged labia minora Abnormality of the skeletal system Osteoporosis Osteopenia Hypertrophic cardiomyopathy Postural instability Hepatitis Skin ulcer Respiratory insufficiency Venous thrombosis Reduced bone mineral density Cholelithiasis Osteomalacia Reduced beta/alpha synthesis ratio Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Portal fibrosis Abnormal hemoglobin Fever Abnormality of temperature regulation Abnormality of iron homeostasis Axenfeld anomaly Micrognathia Increased body weight Hyporeflexia Neonatal hypoglycemia Abnormality of movement Drowsiness Strabismus Glycosuria Skeletal muscle atrophy Optic atrophy Hypoplasia of the corpus callosum Intellectual disability, severe Visual loss Agenesis of corpus callosum Generalized limb muscle atrophy Muscular hypotonia of the trunk Abnormality of the eye Apnea Severe global developmental delay Abnormality of eye movement Confusion Retinal dystrophy Metabolic acidosis Delayed skeletal maturation Progressive microcephaly Bradycardia Chronic lactic acidosis Erythroid hyperplasia Postprandial hyperglycemia Ketonuria Ptosis High palate Fasting hypoglycemia Myopathy Short nose Long philtrum Abnormality of metabolism/homeostasis Abnormality of the gastrointestinal tract Myoclonus Glaucoma Stroke Cytochrome C oxidase-negative muscle fibers Ketosis Lactic acidosis Progressive muscle weakness EMG abnormality Exercise intolerance Ragged-red muscle fibers Increased serum ferritin Mitochondrial myopathy Stroke-like episode Distichiasis Sideroblastic anemia Lactescent serum


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