Growth delay, and Atherosclerosis

Diseases related with Growth delay and Atherosclerosis

In the following list you will find some of the most common rare diseases related to Growth delay and Atherosclerosis that can help you solving undiagnosed cases.

Top matches:

Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh|ighd ib

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH OMIM MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 Is also known as pulmonary alveolar proteinosis, congenital, 4|csf2ra deficiency|pap due to csf2ra deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia


SOURCES: MESH OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

Low match SITOSTEROLEMIA

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Other less relevant matches:

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea

Related symptoms:

  • Short stature
  • Growth delay
  • Pain
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE B

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

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 Growth delay and Atherosclerosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Foam cells Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Atherosclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Pneumonia Anemia Spasticity Bone-marrow foam cells Hypertriglyceridemia Hepatomegaly Hypercholesterolemia Intellectual disability Vomiting Jaundice

Rare Symptoms - Less than 30% cases

Irritability Athetosis Recurrent respiratory infections Osteoporosis Rigidity Steatorrhea Seizures Cirrhosis Hepatic failure Neurodegeneration Hepatic steatosis Back pain Leukodystrophy Hyperlipoproteinemia Areflexia Protuberant abdomen Ataxia Sea-blue histiocytosis Diffuse reticular or finely nodular infiltrations Foam cells with lamellar inclusion bodies Generalized hypotonia Hypertension Abdominal distention Diarrhea Global developmental delay Hyperlipidemia Hypersplenism Tremor Cognitive impairment Respiratory distress Abdominal pain Precocious atherosclerosis Mental deterioration Abnormality of the liver Hearing impairment Abnormal lung morphology Dystonia Intention tremor Xanthomatosis Dysarthria Stuttering Motor delay Facial grimacing Sensorineural hearing impairment Nystagmus Angiokeratoma Reduced number of teeth Focal impaired awareness seizure Anterior beaking of lumbar vertebrae Drooling Oligodontia Hypoplastic acetabulae Dysdiadochokinesis CNS hypomyelination Decreased beta-galactosidase activity Hypogonadotrophic hypogonadism Peripheral demyelination Peripheral neuropathy Babinski sign Cerebral cortical atrophy Gait ataxia Postural tremor Delayed puberty Dysmetria Delayed eruption of teeth Hypodontia Hypogonadism Abnormal cerebellum morphology Abnormality of the dentition Hyperreflexia Cerebellar atrophy Hypoplasia of the corpus callosum Ventriculomegaly Progressive cerebellar ataxia Focal-onset seizure Dysphagia Optic atrophy High myopia Myopia Abnormal pyramidal sign Growth abnormality Natal tooth Acanthocytosis Elevated hepatic transaminase Pallor Retinopathy Skin rash Nausea and vomiting Nausea Memory impairment Pancreatitis EMG: myopathic abnormalities Glucose intolerance Episodic abdominal pain Peripheral arterial stenosis Peritonitis Dementia Impaired proprioception Hypocholesterolemia Chills Acute pancreatitis Intestinal bleeding Chronic pancreatitis Eruptive xanthomas Recurrent pancreatitis Lipemia retinalis Increased circulating chylomicron concentration Pancreatic calcification Increased hepatocellular lipid droplets Abnormality of vitamin metabolism Hyperhidrosis Depressivity Motor deterioration Hypophosphatemia Hypometric saccades Abnormal upper motor neuron morphology Congestive heart failure Conductive hearing impairment Papule Genu valgum Cyanosis Ventricular hypertrophy Myocardial infarction Left ventricular hypertrophy Flared iliac wings Glomerulosclerosis Rickets Pericardial effusion Visual impairment Ankylosis Hypophosphatemic rickets Endocardial fibroelastosis Arterial stenosis Otosclerosis Arteriosclerosis Angioid streaks of the fundus Coronary artery stenosis Vascular calcification Arterial calcification Generalized arterial calcification Coronary artery calcification Periarticular calcification Visceromegaly Delayed speech and language development Diffuse cerebral atrophy Tuberous xanthoma Stomatocytosis Increased mean platelet volume Macrothrombocytopenia Xanthelasma Giant platelets Premature coronary artery atherosclerosis Chronic hemolytic anemia Accelerated atherosclerosis Abnormality of the integument Episodic hemolytic anemia Hyperapobetalipoproteinemia Spinal cord compression Thrombocytopenia Dyspnea Decreased liver function Interstitial pulmonary abnormality Abnormal heart valve morphology Decreased HDL cholesterol concentration Histiocytosis Increased LDL cholesterol concentration Abnormal macular morphology Fever Impaired platelet aggregation Reticulocytosis Weight loss Tachycardia Frontal bossing Obesity Delayed skeletal maturation Severe short stature Growth hormone deficiency Truncal obesity Proportionate short stature Abdominal obesity Respiratory insufficiency Respiratory failure Tachypnea Coronary artery atherosclerosis Restrictive ventilatory defect Hypoxemia Alveolar proteinosis Crackles Arthralgia Arthritis Paraplegia Hemolytic anemia Abnormal bleeding Abnormality of the cardiovascular system Hyperbilirubinemia Hernia Umbilical hernia Generalized dystonia Urinary incontinence Scoliosis Skeletal muscle atrophy Hypertonia Intellectual disability, mild Kyphosis Pes cavus Myoclonus Platyspondyly Parkinsonism Chorea Abnormality of extrapyramidal motor function Prolonged neonatal jaundice Tetraparesis Abnormality of the face Opacification of the corneal stroma Spastic tetraparesis Slurred speech Generalized amyotrophy Progressive spasticity Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Loss of speech Cherry red spot of the macula Microcytic anemia Developmental regression Acute hepatic failure Scarring Malabsorption Ascites Pulmonary arterial hypertension Hepatic fibrosis Increased body weight Cachexia Portal hypertension Malnutrition Abnormality of lipid metabolism Esophageal varix Sleep disturbance Vacuolated lymphocytes Low-grade fever Periportal fibrosis Adrenal calcification Muscle weakness Muscular hypotonia Hyporeflexia Constipation Feeding difficulties in infancy Respiratory tract infection Lymphadenopathy Lactescent serum


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Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider This service is using Human Phenotype Ontology (Build #1700 - Oct 2017). Find out more at www.human-phenotype-ontology.org.

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