High palate, and Hepatic steatosis

Diseases related with High palate and Hepatic steatosis

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

Top matches:

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

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Other less relevant matches:

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Top 5 symptoms//phenotypes associated to High palate and Hepatic steatosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Cataract Feeding difficulties in infancy Long philtrum Intellectual disability Neonatal hypotonia High forehead Elevated hepatic transaminase Ventriculomegaly Prominent forehead Posteriorly rotated ears Hepatomegaly Frontal bossing Scoliosis Aggressive behavior Polymicrogyria Nystagmus Congestive heart failure Aspiration Cardiomyopathy Abnormality of the kidney Delayed speech and language development Renal cyst Muscular hypotonia Downslanted palpebral fissures Abnormality of the cerebral white matter Pectus excavatum Myopia Behavioral abnormality Dilatation Clinodactyly of the 5th finger Delayed skeletal maturation Optic atrophy Talipes equinovarus Strabismus Growth delay Enlarged kidney Hearing impairment Respiratory insufficiency Hypertelorism Cerebral atrophy Gastroesophageal reflux Osteopenia Micrognathia Inguinal hernia Hydronephrosis Abnormality of the liver Macrocephaly Depressed nasal bridge Epicanthus Abnormality of the eye

Rare Symptoms - Less than 30% cases

Abnormal facial shape Progressive visual loss Abdominal distention Cerebral hemorrhage Hypoplasia of the corpus callosum Skeletal muscle atrophy Dolichocephaly Talipes Retrognathia Polyhydramnios Upslanted palpebral fissure Pneumonia Pachygyria Hypospadias Visual impairment Heterotopia Atrial septal defect Delayed cranial suture closure Infantile spasms Ventricular hypertrophy Mitral regurgitation Decreased body weight Stereotypy Aplasia/Hypoplasia of the corpus callosum Delayed gross motor development Abnormality of vision Failure to thrive in infancy High, narrow palate Abnormal heart valve morphology Intestinal malrotation Submucous cleft hard palate Arnold-Chiari type I malformation Hypertrophic cardiomyopathy Abnormality of the gastrointestinal tract Abnormality of the testis Delayed CNS myelination Thickened helices Abnormality of the optic disc Abnormality of the hairline Coarctation of aorta Hypermetropia Scaphocephaly Myopathy Short stature Muscle weakness Cryptorchidism Wide nasal bridge Dysphagia Ventricular septal defect Anteverted nares Hydrocephalus Narrow palate Kyphosis Neurological speech impairment Malar flattening Abnormality of cardiovascular system morphology Clinodactyly Constipation Cerebral cortical atrophy Autism Mandibular prognathia EEG abnormality Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Polycystic kidney dysplasia Large fontanelles Cardiomegaly Renal insufficiency Pectus carinatum Vomiting Arachnodactyly Mitral valve prolapse Myocardial infarction Bulbous nose Lethargy Dilated cardiomyopathy Agenesis of corpus callosum Elevated serum creatine phosphokinase Hypoglycemia Kyphoscoliosis Deeply set eye Flexion contracture Microcephaly Brittle hair Joint laxity Obsessive-compulsive behavior Cholestasis Bile duct proliferation Oligohydramnios Ascites Stroke Hernia Disproportionate tall stature Portal hypertension Abnormality of the skeletal system Depressivity Edema Hypertension Vesicoureteral reflux Abnormality of the cardiovascular system Relative macrocephaly Growth hormone deficiency Webbed neck Poor suck Hyperextensible skin Dental malocclusion Premature birth Nevus Cholangitis Full cheeks Abnormal bleeding Deep philtrum Redundant skin Congenital hepatic fibrosis Palmoplantar keratoderma Bilateral ptosis Chronic kidney disease Sleep disturbance Pancreatic cysts Palmoplantar hyperkeratosis Cerebral visual impairment Narrow forehead Thick vermilion border Aortic aneurysm Abnormality of the nail Lymphedema Sparse eyelashes Oculomotor apraxia Cafe-au-lait spot Thickened skin Tricuspid regurgitation Cutis laxa Abnormal palate morphology Dilatation of the cerebral artery Low posterior hairline Hemangioma Open mouth Subarachnoid hemorrhage Inflammatory abnormality of the skin Sleep apnea Hemiparesis Abnormality of the genitourinary system Cholelithiasis Fine hair Hyperpigmentation of the skin Optic nerve hypoplasia Ichthyosis Retinal dystrophy Abnormality of the renal pelvis Splenomegaly Hypertonia Abnormality of the dentition Blindness Intellectual disability, severe Colonic diverticula Short neck Dysarthria Ptosis Neoplasm Ataxia Agenesis of the anterior commissure Solitary renal cyst Abnormality of the cerebral ventricles Thrombocytopenia Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abdominal aortic aneurysm Oppositional defiant disorder Asymmetry of the ears Short nose Tricuspid valve prolapse Bruising susceptibility Pruritus Falls Joint hypermobility Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Hepatic cysts Chronic pain Dry skin Astigmatism Genu valgum Pulmonic stenosis Hypotrichosis Nail dystrophy Leukemia Encephalopathy Scarring Sparse hair Erythema Respiratory tract infection Irritability Telecanthus Umbilical hernia Coarse facial features Macrotia Proptosis Hyperkeratosis Hyperhidrosis Alopecia Abnormal heart morphology Sparse eyebrow Nephrolithiasis Scaling skin Limb-girdle muscle weakness Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Gowers sign Myotonia Bundle branch block Right bundle branch block Difficulty climbing stairs Difficulty running Hypoventilation Progressive proximal muscle weakness Abnormality of hair texture Frontal balding Proximal muscle weakness in lower limbs Autophagic vacuoles Excessive wrinkled skin Limited extraocular movements Jaundice Flat face Abnormality of the pulmonary artery Severe muscular hypotonia Flat occiput Bilateral talipes equinovarus Epiphyseal stippling Cardiorespiratory arrest Hyperextensibility of the finger joints Endocarditis Anterior creases of earlobe Abnormal aortic valve morphology Multiple palmar creases Muscular dystrophy Distal muscle weakness Myalgia Lower limb muscle weakness Proximal muscle weakness Motor delay Generalized muscle weakness Oral aversion Multiple plantar creases Left ventricular hypertrophy Eyelid fasciculation Progressive muscle weakness Abnormality of the auditory canal Abnormal tricuspid valve morphology Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Generalized neonatal hypotonia Subvalvular aortic stenosis Pleural effusion Aplasia/Hypoplasia of the eyebrow Biparietal narrowing Syndactyly Headache Polydactyly Pes planus Multiple cafe-au-lait spots Long palpebral fissure Abnormality of the sternum Neurofibromas Stage 5 chronic kidney disease Hematuria Neurodevelopmental delay Hydroureter Microretrognathia Malnutrition Open bite Large for gestational age Recurrent urinary tract infections Absent eyebrow Limb muscle weakness Hepatic fibrosis Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Aortic regurgitation Pain Curly hair Hepatosplenomegaly Woolly hair Anxiety Cranial nerve VI palsy Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Abnormality of the optic nerve Dystrophic fingernails Craniosynostosis Abnormal hair pattern Thick upper lip vermilion Short attention span Finger clinodactyly Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Broad nasal tip Underdeveloped supraorbital ridges Anal stenosis Recurrent pneumonia Generalized hyperpigmentation Noncompaction cardiomyopathy Patent foramen ovale Abnormal social behavior Increased total bilirubin Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Dicarboxylic aciduria Cerebellar atrophy Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Heart block Hyperkalemia Hypoplastic toenails Overfolded helix Ventricular arrhythmia Long-chain dicarboxylic aciduria Visual loss Knee flexion contracture Undetectable electroretinogram Cognitive impairment Cleft palate Sensorineural hearing impairment Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Corpus callosum atrophy Aspiration pneumonia Severe global developmental delay Adrenal hypoplasia Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Progressive hearing impairment Split hand Peripheral demyelination Gliosis Hyperammonemia Multicystic kidney dysplasia Gait disturbance Interstitial pulmonary abnormality Pancreatitis Tall stature Dental crowding Limitation of joint mobility Hypopigmentation of the skin Retinal detachment Glaucoma Osteoporosis Small scrotum Vitamin A deficiency Anasarca Vitamin D deficiency Rickets Schizophrenia Hypoalbuminemia Tachypnea Hypocalcemia Decreased liver function Abnormal lung morphology Pancytopenia Cirrhosis Abnormality of eye movement Cough Recurrent infections Intrauterine growth retardation Anemia Atherosclerosis Ectopia lentis Elbow flexion contracture Arrhythmia Renal dysplasia Sloping forehead Wide intermamillary distance Aciduria Coma Metabolic acidosis Tapered finger Hepatic failure Abnormality of the foot Apnea Acidosis Respiratory failure Respiratory distress Cutis marmorata Fatigue Hyperreflexia Hypermethioninemia Personality disorder Biconcave vertebral bodies Homocystinuria Cerebral edema Precocious atherosclerosis Generalized osteoporosis Peripheral arterial stenosis Transient ischemic attack Pulmonary embolism Thromboembolism Brachydactyly Midface retrusion Talipes valgus Foot polydactyly Lower limb asymmetry Optic nerve coloboma Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Overweight Epileptic spasms Abnormal lung lobation Spinal canal stenosis 11 pairs of ribs Aortic root aneurysm Congenital hypothyroidism Anteriorly placed anus Neuroblastoma Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormality of the immune system High hypermetropia Macule Polyphagia Hypermelanotic macule Abnormality of the neck Dilation of lateral ventricles Metatarsus adductus Lambdoidal craniosynostosis Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Impaired social interactions Volvulus Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Redundant neck skin Dysphasia Hemiplegia/hemiparesis Absent speech Coloboma Abnormality of the skin Delayed myelination Brain atrophy Bifid uvula Short foot Oral cleft Cleft upper lip Poor speech Synophrys Small for gestational age Microtia Camptodactyly of finger Blepharophimosis Epileptic encephalopathy Joint stiffness Abnormality of the pinna Camptodactyly Conductive hearing impairment Hypothyroidism Narrow mouth Micropenis Brachycephaly Hypogonadism Pes cavus Patent ductus arteriosus Obesity Hip dysplasia Abnormal blistering of the skin Congenital sensorineural hearing impairment Spastic tetraparesis Clitoral hypertrophy Self-injurious behavior Hand polydactyly Pyloric stenosis Infantile muscular hypotonia Scrotal hypoplasia Sacral dimple Bicuspid aortic valve Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Narrow palpebral fissure Tetralogy of Fallot Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Telangiectasia Hypertrichosis Depressed nasal ridge Tetraparesis Interphalangeal joint contracture of finger Hypsarrhythmia Abnormality of the ribs Optic disc pallor Hypoplasia of penis Cerebral berry aneurysm


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