Growth delay, and Nephritis

Diseases related with Growth delay and Nephritis

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

Top matches:

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 20; NPHP20

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Other less relevant matches:

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

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 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

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

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Top 5 symptoms//phenotypes associated to Growth delay and Nephritis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nephrotic syndrome Nystagmus Anemia Renal insufficiency Hypertension Tubulointerstitial nephritis Cataract Visual impairment Global developmental delay Abnormality of the kidney Immunodeficiency Recurrent infections Seizures Nephropathy

Rare Symptoms - Less than 30% cases

Cognitive impairment Hearing impairment Thyroiditis Autoimmune hemolytic anemia Abnormality of the thyroid gland Sensorineural hearing impairment Progressive visual loss Micrognathia Hypertelorism Eczema Pyelonephritis Elevated serum creatinine Glomerulonephritis Myopia Renal dysplasia Renal hypoplasia Inflammatory abnormality of the skin Chronic kidney disease Failure to thrive Fatigue Ventricular septal defect Intrauterine growth retardation Microcephaly Thrombocytopenia Nephronophthisis Arthritis Renal cyst Polydactyly Hemolytic anemia Rod-cone dystrophy Autoimmunity Abnormal facial shape Lymphadenopathy Retinal degeneration Leukopenia Purpura Nausea Systemic lupus erythematosus Epiphyseal stippling Vasculitis Retinal dystrophy Involuntary movements Abnormality of coagulation Cutaneous photosensitivity Abnormality of retinal pigmentation Hepatic fibrosis Incoordination Rheumatoid arthritis Increased antibody level in blood Hypermetropia Pericarditis Hashimoto thyroiditis Gangrene Raynaud phenomenon Antinuclear antibody positivity Polydipsia Antiphospholipid antibody positivity Complement deficiency Aseptic necrosis Autoimmune thrombocytopenia Malar rash Nyctalopia Serositis Ataxia Abnormality of the skeletal system Blindness Vomiting Visual loss Weight loss Photophobia Scarring Retinopathy Pleuritis Multiple small medullary renal cysts Premature ovarian insufficiency Retinal coloboma Macular degeneration Abnormality of the genitourinary system Hyperextensible skin Visual field defect Chorioretinal atrophy Severe vision loss Arnold-Chiari type I malformation Soft skin Abnormality of the vasculature Multiple renal cysts Hydrocele testis Optic nerve coloboma High-frequency hearing impairment Horseshoe kidney Ureteropelvic junction obstruction Platybasia Lens luxation Bilateral renal hypoplasia Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation Morning glory anomaly Orbital cyst Macular hyperpigmentation Recurrent pyelonephritis Multicystic kidney dysplasia Nephrolithiasis Cone-shaped epiphysis Exudative retinopathy Polyuria Diabetes insipidus High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Retinal dysplasia Congenital hepatic fibrosis Tapetoretinal degeneration Abnormality of bone mineral density Azotemia Memory impairment Strabismus Abnormality of the genital system Hydrocephalus Edema Microphthalmia Glaucoma Reduced visual acuity Hydronephrosis Joint laxity Coloboma Joint hyperflexibility Confusion Retinal detachment Gliosis Vesicoureteral reflux Psychosis Low-set ears Abnormality of the skin Elevated hepatic transaminase Intractable diarrhea Secretory diarrhea Muscle weakness Ptosis Hepatomegaly Cardiomyopathy Myopathy Congestive heart failure Elevated serum creatine phosphokinase Hepatosplenomegaly Proximal muscle weakness Ileus Myalgia Abnormality of the liver Dilated cardiomyopathy Progressive muscle weakness Psoriasiform dermatitis Leukocytosis Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Gastrointestinal inflammation Pharyngitis Pancreatic hypoplasia Immune dysregulation Respiratory insufficiency Diabetes mellitus Situs inversus totalis Renal fibrosis Pneumonia Recurrent skin infections Recurrent lower respiratory tract infections Verrucae Enterocolitis Membranous nephropathy Recurrent abscess formation Diarrhea Hypothyroidism Villous atrophy Sepsis Hepatitis Cardiac arrest Type I diabetes mellitus Abnormal intestine morphology Eosinophilia Erythroderma Hyperglycemia Abnormality of the coagulation cascade Malnutrition Ketoacidosis Brachydactyly Respiratory distress Skin rash Sparse hair Narrow forehead Glomerulosclerosis Focal segmental glomerulosclerosis Minimal change glomerulonephritis Depressed nasal bridge Epicanthus Downslanted palpebral fissures Abnormality of the dentition Prominent forehead Craniosynostosis Hematuria Polymicrogyria Ectodermal dysplasia Dandy-Walker malformation Cerebellar vermis hypoplasia Sparse eyelashes Trigonocephaly Sparse eyebrow Hypoplastic toenails Scaphocephaly Posterior fossa cyst Midface retrusion Alopecia Esotropia Arachnodactyly Inguinal hernia Metaphyseal widening Thin upper lip vermilion Cleft lip Respiratory tract infection Narrow chest Oral cleft Short foot Full cheeks Limb undergrowth Rhizomelia Short ribs Thoracic dysplasia Dysmetria Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Generalized hypotonia Spasticity High palate Feeding difficulties Delayed speech and language development Cerebellar atrophy Cerebral atrophy Cerebellar hypoplasia Ureterovesical junction obstruction


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