High palate, and Nephrotic syndrome

Diseases related with High palate and Nephrotic syndrome

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

Top matches:

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Other less relevant matches:

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT 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

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

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Top 5 symptoms//phenotypes associated to High palate and Nephrotic syndrome

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Edema Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Arachnodactyly Cerebellar atrophy Renal insufficiency Focal segmental glomerulosclerosis Glomerulosclerosis Cerebral atrophy Epicanthus Delayed speech and language development Abnormal facial shape Pain Hypertelorism Nystagmus Micrognathia Ascites Talipes equinovarus Abnormality of the kidney Muscular hypotonia Hernia Flexion contracture Abnormality of the skeletal system Ventriculomegaly Hearing impairment Narrow mouth Hypoalbuminemia Strabismus Dilatation Proteinuria Ataxia Visual impairment Narrow forehead Cerebellar hypoplasia Microcephaly Intrauterine growth retardation Stage 5 chronic kidney disease Scoliosis Spasticity Growth delay

Rare Symptoms - Less than 30% cases

Chronic kidney disease Hypospadias Short nose Retrognathia Paralysis Abnormality of the dentition Brachydactyly Myopathy Hypertension Scarring Cataract Muscle weakness Diffuse mesangial sclerosis Hand clenching Lissencephaly Postnatal microcephaly Sparse hair Sepsis Muscular dystrophy Recurrent urinary tract infections Syndactyly Vomiting Anemia Polydactyly Hiatus hernia Cerebral hemorrhage Coarctation of aorta Renal cyst Adducted thumb Nephrolithiasis Mitral valve prolapse Short distal phalanx of finger High, narrow palate Joint laxity Polycystic kidney dysplasia Cleft palate Narrow nasal ridge Delayed cranial suture closure Hyperlipidemia Large fontanelles Thin skin Hematuria Pachygyria Talipes Oligohydramnios Hepatosplenomegaly Cryptorchidism Ptosis Splenomegaly Inguinal hernia Aspiration Hydrops fetalis Failure to thrive Downslanted palpebral fissures Severe global developmental delay Feeding difficulties Abnormality of the foot Premature birth Hypopigmentation of the skin Anteverted nares Low-set ears Osteopenia Hypoplasia of the corpus callosum Midface retrusion Pectus excavatum Microphthalmia Convex nasal ridge Sloping forehead Camptodactyly Hydrocephalus Esophagitis Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Pes cavus Adrenal hypoplasia Mild microcephaly Aspiration pneumonia Hypoplasia of the iris Proportionate short stature Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormal renal physiology Diaphragmatic eventration Periorbital edema Thyroid dysgenesis Stroke Pes planus Esotropia Headache Minimal change glomerulonephritis Projectile vomiting Hepatomegaly Laryngospasm Pneumonia Hypoplasia of the ear cartilage Absent speech Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Hemiplegia/hemiparesis Abnormality of neuronal migration Cerebral cortical atrophy Flat occiput Abnormality of eye movement Gastroesophageal reflux Tetraplegia Sleep disturbance Nephropathy EEG abnormality Inability to walk Poor speech Small for gestational age Chorea Prominent nasal bridge Camptodactyly of finger Retinopathy Wide mouth Irritability Abnormality of the eye Muscular hypotonia of the trunk Gliosis Brain atrophy Hypoplasia of the brainstem Mitral regurgitation Hyperkinesis Severe muscular hypotonia Hypothyroidism Opacification of the corneal stroma Joint contracture of the hand Macrotia Progressive microcephaly Heterotopia Limitation of joint mobility Small nail Hypsarrhythmia Spastic tetraplegia Hypotelorism Dandy-Walker malformation Prominent nose Delayed myelination Polymicrogyria Disproportionate tall stature Hepatic fibrosis Protein-losing enteropathy Oral cleft Micromelia Narrow chest Dolichocephaly Cleft lip Respiratory insufficiency Intractable diarrhea Enterocolitis Villous atrophy Pulmonary hypoplasia Malnutrition Hyponatremia Hypercholesterolemia Abnormal intestine morphology Metabolic acidosis Acidosis Diarrhea Exercise-induced myoglobinuria Hepatic failure Postaxial polydactyly Recurrent myoglobinuria Mesomelia Fused teeth Short lingual frenulum Bilateral postaxial polydactyly Thoracic dysplasia Flat acetabular roof Hypoplastic scapulae Cystic hygroma Agenesis of permanent teeth Thoracic hypoplasia Nail dysplasia Aplasia/Hypoplasia of the eyebrow Short long bone Short ribs Bowing of the long bones Fine hair Renal hypoplasia Limb undergrowth Microdontia Exercise-induced muscle cramps Increased muscle fatiguability Aortic regurgitation Congenital hepatic fibrosis Fatigue Cerebral berry aneurysm Abdominal aortic aneurysm Colonic diverticula Tricuspid valve prolapse Chronic pain Hepatic cysts Pancreatic cysts Cholangitis Visual loss Enlarged kidney Subarachnoid hemorrhage Dilatation of the cerebral artery Tricuspid regurgitation Aortic aneurysm Portal hypertension Cholelithiasis Dysmetria Encephalopathy Rod-cone dystrophy Decreased mean corpuscular volume Spastic tetraparesis Myoglobinuria Progressive encephalopathy Reticulocytosis Acute kidney injury Rhabdomyolysis Aphasia Emotional lability Hemiplegia Purpura Jaundice Hyperbilirubinemia Exercise intolerance Tetraparesis Migraine Muscle cramps Hemolytic anemia Retinal dystrophy Mental deterioration Myalgia Dystonia Endocarditis Hypertonia Lipodystrophy High pitched voice Glucose intolerance Hyperostosis Hyperglycemia Absent eyebrow Congenital muscular dystrophy Hyperinsulinemia Dermal atrophy Hypermelanotic macule Gingival overgrowth Atherosclerosis Acanthosis nigricans Osteolysis Wormian bones Increased body weight Hyperpigmentation of the skin Insulin resistance Cardiomegaly Reduced subcutaneous adipose tissue Sparse scalp hair Vertebral compression fractures Breast aplasia Wide cranial sutures Generalized lipodystrophy Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Osteolytic defects of the phalanges of the hand Spinal rigidity Progeroid facial appearance Down-sloping shoulders Narrow nose Insulin-resistant diabetes mellitus Premature loss of teeth Short clavicles Arthropathy Prematurely aged appearance Dental crowding Hypertriglyceridemia Loss of subcutaneous adipose tissue in limbs Hypertensive crisis Hyperkeratosis Diabetes mellitus Osteoporosis Alopecia J-shaped sella turcica Fetal ascites Neoplasm Deeply set eye Vacuolated lymphocytes Corpus callosum atrophy Cortical gyral simplification Hypoplastic left heart Coloboma Hip dislocation Hypocalcemia Leukodystrophy Ichthyosis Proptosis Rigidity Epidermal acanthosis Delayed puberty Abnormality of the cardiovascular system Abnormality of the skin Dental malocclusion Round face Full cheeks Abnormality of the thorax Metaphyseal irregularity Abnormality of skin pigmentation Hypotrichosis Proximal muscle weakness Nail dystrophy Esophageal atresia Fair hair Dysostosis multiplex Conjugated hyperbilirubinemia Joint stiffness Postnatal growth retardation Visceromegaly Hematemesis Mottled pigmentation Optic atrophy Cutis laxa Bilateral talipes equinovarus Abnormality of the coagulation cascade Bilateral cryptorchidism Congenital contracture Pterygium Hyperextensible skin Recurrent skin infections Microretrognathia Prolonged bleeding time Joint dislocation Narrow palate Horseshoe kidney Low anterior hairline Exotropia Coarse facial features Blue sclerae High myopia Atrophic scars Abnormality of the sternum Microcornea Dermal translucency Hyperreflexia Cognitive impairment Abnormality of the duodenum Hyperalgesia Decreased palmar creases Talipes valgus Flat forehead Abnormal anterior chamber morphology Pneumothorax Fragile skin Ecchymosis Generalized joint laxity Diastasis recti Low hanging columella Congestive heart failure Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Intestinal malrotation Tapered finger Bird-like facies Progressive clavicular acroosteolysis Atrial septal defect Short neck Myopia Depressed nasal bridge Motor delay Stiff elbow Foamy urine Increased facial adipose tissue Constipation Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Long philtrum Posteriorly rotated ears Retinal detachment Short philtrum Respiratory tract infection Bruising susceptibility Thick eyebrow Joint hypermobility Corneal opacity Facial asymmetry Arthrogryposis multiplex congenita Broad forehead Blepharophimosis Brachycephaly Protruding ear Telecanthus Hydronephrosis Thin upper lip vermilion Umbilical hernia Kyphoscoliosis Respiratory failure Glaucoma Short uvula


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Interphalangeal joint contracture of finger, related diseases and genetic alterations Downslanted palpebral fissures and Hip dislocation, related diseases and genetic alterations Hydrocephalus and Stage 5 chronic kidney disease, related diseases and genetic alterations