Cataract, and Respiratory tract infection

Diseases related with Cataract and Respiratory tract infection

In the following list you will find some of the most common rare diseases related to Cataract and Respiratory tract infection that can help you solving undiagnosed cases.

Top matches:

CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid

Related symptoms:

  • Cataract
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION

Other less relevant matches:

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

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

BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Top 5 symptoms//phenotypes associated to Cataract and Respiratory tract infection

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Erythema Rare - less than 30% cases

Other less frequent symptoms

Patients with Cataract and Respiratory tract infection. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Arthralgia Rhizomelia Proteinuria Microcephaly Muscle weakness Hearing impairment Hearing abnormality Premature birth Glomerulonephritis Small for gestational age Immunodeficiency Metaphyseal widening Hepatomegaly Flexion contracture Hypergranulosis Skeletal muscle atrophy Congenital nonbullous ichthyosiform erythroderma Scoliosis Lack of skin elasticity Malignant hyperthermia Foot polydactyly Eclabion Myopathy Congenital ichthyosiform erythroderma Obesity Gait disturbance Self-injurious behavior Short finger Sudden cardiac death Respiratory failure Hyperkeratosis Proptosis Rigidity Arthritis Ichthyosis Everted lower lip vermilion Sepsis Limitation of joint mobility Erythroderma Dehydration Depressed nasal ridge Thickened skin Recurrent skin infections Alopecia Hand polydactyly Ectropion Recurrent respiratory infections Elevated serum creatine phosphokinase Fine hair Hyperhidrosis Increased susceptibility to fractures Coarctation of aorta Blue sclerae Thin skin Bowing of the long bones Large fontanelles Wormian bones Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Tibial bowing Recurrent fractures Nonimmune hydrops fetalis Pulmonary insufficiency Lens luxation Multiple prenatal fractures Broad long bones Abnormality of calvarial morphology Beaded ribs Crumpled long bones Convex nasal ridge Platyspondyly Dyspnea Pulmonary fibrosis Papule Delayed puberty Hypopigmentation of the skin Nail dysplasia Agammaglobulinemia Telangiectasia Hypohidrosis Clubbing Truncal obesity Abnormality of the dentition Scleroderma Raynaud phenomenon Achilles tendon contracture Heat intolerance Poikiloderma Thin eyebrow Erysipelas Mottled pigmentation Congestive heart failure Noncompaction cardiomyopathy Neutropenia Upper limb undergrowth Nephropathy Inverted nipples Central hypotonia Pain Fever Renal insufficiency Autoimmunity Skin rash Hematuria Progressive muscle weakness Hepatitis Meningitis Systemic lupus erythematosus Keratitis Glomerulopathy Microscopic hematuria Facial erythema Membranoproliferative glomerulonephritis Decreased liver function Retinal dystrophy Macroscopic hematuria Recurrent sinopulmonary infections Abnormal blistering of the skin Colitis Cellulitis IgA deficiency Corneal erosion Ulcerative colitis Immune dysregulation IgM deficiency Hepatosplenomegaly Enterocolitis Bronchiolitis Interstitial pneumonitis Generalized hypotonia Sensorineural hearing impairment Feeding difficulties Visual impairment Visual loss IgA deposition in the glomerulus Discoid lupus rash Neurodevelopmental delay Midface retrusion Chronic tubulointerstitial nephritis Short stature Abnormal facial shape Low-set ears Anemia Abnormality of the skeletal system Cardiomyopathy Thrombocytopenia Pes valgus Dry skin Abnormality of metabolism/homeostasis Eczema Choanal atresia Gingival overgrowth Lymphopenia Leukopenia Recurrent upper respiratory tract infections Short iliac bones Thoracic dysplasia Loss of eyelashes Thin upper lip vermilion Decreased serum complement factor I Growth delay Hypertension Brachydactyly Myopia Respiratory distress Inguinal hernia Polydactyly Cleft lip Elevated serum creatinine Narrow chest Stage 5 chronic kidney disease Oral cleft Short foot Full cheeks Limb undergrowth Renal hypoplasia Short ribs Absent ossification of calvaria


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