Cataract, and Pneumonia

Diseases related with Cataract and Pneumonia

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


Top matches:

Low match IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY


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

Low match HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME


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

Low match OSTEOGENESIS IMPERFECTA TYPE 2


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

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Other less relevant matches:

Low match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Low match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Low match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Low match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Pneumonia

Symptoms // Phenotype % cases
Microcephaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Pneumonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Optic atrophy Gait disturbance Hypertrophic cardiomyopathy Elevated serum creatine phosphokinase Hypertelorism Delayed speech and language development Intellectual disability Congestive heart failure

Rare Symptoms - Less than 30% cases


Hearing impairment Short stature Abnormal facial shape Global developmental delay Cryptorchidism Cognitive impairment Macrotia Convex nasal ridge Short nose Abnormality of the dentition Respiratory insufficiency Aspiration Pain Aspiration pneumonia Ataxia Poor coordination Cutaneous photosensitivity Vertigo Carious teeth Intellectual disability, mild Respiratory distress Ventriculomegaly Mildly elevated creatine phosphokinase Poikiloderma Clumsiness Psychosis Parkinsonism Bundle branch block Right bundle branch block Encephalopathy Dystonia Tremor Visual impairment Respiratory failure Dyspnea Renal insufficiency Myopathy Skin rash Proteinuria Alopecia Muscle weakness Obesity Sudden cardiac death Atrial fibrillation Myocardial infarction Ventricular hypertrophy Difficulty climbing stairs Syncope Chest pain Generalized muscle weakness Palpitations Tachycardia Paresthesia Lower limb muscle weakness Limb muscle weakness Dilated cardiomyopathy Hypokinesia Spastic gait Spastic paraparesis Tricuspid regurgitation Ventricular tachycardia Akinesia Limb-girdle muscular dystrophy Atrioventricular block Drooling EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Scapular winging Progressive muscle weakness Elbow flexion contracture Progressive spasticity Increased variability in muscle fiber diameter Restlessness Paraparesis Muscle stiffness Facial hypotonia Hyperreflexia Muscular dystrophy Recurrent otitis media Atrophic scars Increased antibody level in blood Myelodysplasia Conjunctivitis Recurrent pneumonia Mania Eczema Blepharitis Otitis media Asthma Palmoplantar keratoderma Neutropenia Nail dystrophy Cough Respiratory tract infection Wheezing Osteosarcoma Postnatal microcephaly Arrhythmia Distal muscle weakness Joint stiffness Facial palsy Myalgia Proximal muscle weakness Macroorchidism Constipation Dilatation Progressive spastic paraparesis Bruxism Shuffling gait Diarrhea Peripheral neuropathy Slender build Excessive salivation Subungual hyperkeratosis Bulbar palsy Centrally nucleated skeletal muscle fibers Spinal rigidity Blepharophimosis Focal-onset seizure Gliosis Sepsis Triangular face Polymicrogyria Bulbous nose Protruding ear Pointed chin Camptodactyly Retrognathia Pes cavus Micropenis Inguinal hernia Hernia Atrial septal defect Sloping forehead Narrow palpebral fissure EEG abnormality Intellectual disability, severe Spasticity Micrognathia Macrocephaly Growth delay Narrow naris Wide nasal base Short neck Kyphosis Cutis laxa Absent speech Cavum septum pellucidum Entropion Disproportionate tall stature Mask-like facies Babinski sign Focal impaired awareness seizure Gait ataxia Muscular hypotonia of the trunk Rimmed vacuoles Ventricular extrasystoles Skeletal myopathy Myofibrillar myopathy Restrictive cardiomyopathy Small hand Tetraplegia Atrial flutter Abnormality of extrapyramidal motor function Paraplegia Progressive proximal muscle weakness Apraxia Spastic tetraplegia Heart block Neck muscle weakness High palate Choreoathetosis Hyporeflexia of lower limbs Right ventricular cardiomyopathy Abnormal pyramidal sign Motor delay Hypoplasia of the corpus callosum Spastic paraplegia Talipes equinovarus Genu valgum Ventricular septal defect Downslanted palpebral fissures Wide nasal bridge Low-set ears Intestinal pseudo-obstruction Mandibular prognathia Failure to thrive Restrictive heart failure Pica Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Strabismus Weight loss Hyperkeratosis Blue sclerae Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Wormian bones Large fontanelles Bowing of the long bones Thin skin Coarctation of aorta Metaphyseal widening Premature birth Recurrent fractures Platyspondyly Small for gestational age Mottled pigmentation Erysipelas Thin eyebrow Increased susceptibility to fractures Tibial bowing Achilles tendon contracture Brachydactyly Thick eyebrow Abnormal cardiac septum morphology Coarse facial features Gastroesophageal reflux Proptosis Patent ductus arteriosus Abnormality of the skeletal system Absent ossification of calvaria Nonimmune hydrops fetalis Crumpled long bones Beaded ribs Abnormality of calvarial morphology Broad long bones Multiple prenatal fractures Lens luxation Pulmonary insufficiency Heat intolerance Raynaud phenomenon Vesicoureteral reflux Hepatitis Microscopic hematuria Glomerulopathy Keratitis Glomerulonephritis Systemic lupus erythematosus Meningitis Hematuria Membranoproliferative glomerulonephritis Nephropathy Autoimmunity Erythema Arthralgia Recurrent infections Immunodeficiency Fever Facial erythema IgA deposition in the glomerulus Scleroderma Hypopigmentation of the skin Truncal obesity Pulmonary fibrosis Clubbing Hypohidrosis Telangiectasia Fine hair Nail dysplasia Delayed puberty Macroscopic hematuria Papule Hyperhidrosis Skeletal muscle atrophy Hepatomegaly Decreased serum complement factor I Loss of eyelashes Discoid lupus rash Downturned corners of mouth Round face Recurrent respiratory infections Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Hypertension Anemia Neoplasm Progressive inability to walk Increased extraneuronal autofluorescent lipopigment Cerebral degeneration Presenile cataracts Deeply set eye Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Concentric hypertrophic cardiomyopathy Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Autophagic vacuoles Vacuolated lymphocytes Oromandibular dystonia Severe short stature Elevated hepatic transaminase Vegetative state Absence of subcutaneous fat Midface retrusion Malar flattening Splenomegaly Frontal bossing Depressed nasal bridge Lack of subcutaneous fatty tissue Bird-like facies Prematurely aged appearance Dry skin High pitched voice Prominent supraorbital ridges Cachexia Neoplasm of the skin Narrow face Hypoplasia of dental enamel Ascites Psychomotor deterioration Tapetoretinal degeneration Abnormal lung morphology Nystagmus Depressivity Cerebral atrophy Behavioral abnormality Cerebellar atrophy Blindness Dysarthria Muscular hypotonia Recurrent aspiration pneumonia Rod-cone dystrophy Thick hair Chronic lung disease Tracheal stenosis Laryngomalacia Horseshoe kidney Abnormal vertebral morphology Long eyelashes Visual loss Dementia Undetectable electroretinogram Progressive visual loss Pendular nystagmus Progressive encephalopathy Retinal atrophy Mutism Macular degeneration Generalized-onset seizure Pigmentary retinopathy Memory impairment Myoclonus Nevus Abnormal cerebellum morphology Retinal degeneration Confusion Mental deterioration Anxiety Glaucoma Juvenile cataract



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