Cataract, and Neutropenia

Diseases related with Cataract and Neutropenia

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


Top matches:

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Low match CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


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

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Other less relevant matches:

Low match HERMANSKY-PUDLAK SYNDROME 5; HPS5


Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Cataract
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 5; HPS5

Low match 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8


MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

Low match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

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 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Top 5 symptoms//phenotypes associated to Cataract and Neutropenia

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebral atrophy Abnormal facial shape Hearing impairment Recurrent infections Dystonia Generalized hypotonia Cardiomyopathy Anemia Nystagmus Respiratory failure Ataxia 3-Methylglutaconic aciduria Myelodysplasia Aciduria

Rare Symptoms - Less than 30% cases


Neurodegeneration Hypertelorism Failure to thrive Choreoathetosis Abnormality of movement Hyperactivity Encephalopathy Flexion contracture Spasticity Carious teeth Osteosarcoma Increased serum lactate Frontal bossing Abnormality of extrapyramidal motor function Thrombocytopenia Respiratory tract infection Eczema Cutaneous photosensitivity Feeding difficulties Palmoplantar keratoderma Nail dystrophy Midface retrusion Poikiloderma Congenital cataract Edema Gait ataxia Severe global developmental delay Cerebellar atrophy Intrauterine growth retardation Macrocephaly Microphthalmia Delayed skeletal maturation Severe short stature Prominent forehead Postnatal growth retardation Abnormality of the liver Small for gestational age Hypermetropia Infertility Small nail Decreased testicular size High myopia Peripheral neuropathy Increased bone mineral density Hypocalcemia High pitched voice Delayed cranial suture closure High hypermetropia Basal ganglia calcification Proportionate short stature Papilledema Hypoparathyroidism Hyperphosphatemia Myopia Upper motor neuron dysfunction Congenital neutropenia Attention deficit hyperactivity disorder Intellectual disability Pes cavus Dysphagia Hyporeflexia Myoclonus Areflexia Hypothyroidism Rigidity Neonatal hypotonia Developmental regression Abnormal pyramidal sign Leukemia Dysgraphia Gliosis Brain atrophy Neuronal loss in central nervous system Progressive neurologic deterioration Gait disturbance Opisthotonus Myeloid leukemia Acute myeloid leukemia Progressive encephalopathy Dyslexia Tetany Decreased skull ossification Bilateral microphthalmos Delayed closure of the anterior fontanelle Progressive visual loss Abnormality of the cerebral white matter Paraplegia Unsteady gait Confusion Metabolic acidosis Coma Tetraplegia Progressive cerebellar ataxia Urinary incontinence Febrile seizures Memory impairment Spastic tetraplegia Dilated cardiomyopathy Limb ataxia Paraparesis Spastic paraparesis Spastic tetraparesis Leukoencephalopathy Athetosis Short attention span Skeletal myopathy Abnormality of the basal ganglia Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Spastic paraplegia Hypoglycemia Blepharitis Transient hypophosphatemia Persistence of primary teeth Hypocalcemic seizures Hypocalcemic tetany Thickened cortex of long bones Congenital hypoparathyroidism Postnatal macrocephaly Cortical thickening of long bone diaphyses Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Retinal calcification Abnormal circulating follicle-stimulating hormone level Gastroesophageal reflux Abnormality of the medullary cavity of the long bones Cognitive impairment Delayed speech and language development Motor delay Hepatomegaly Hyperreflexia Dysarthria Optic atrophy Myopathy Visual loss Dementia Acidosis Subungual hyperkeratosis Atrophic scars Wheezing Hypoplasia of the fovea Bruising susceptibility Hypopigmentation of the skin Abnormal bleeding Epistaxis Abnormal lung morphology Horizontal nystagmus Albinism Menorrhagia Pulmonary fibrosis Prolonged bleeding time Colitis Ocular albinism Strabismus Abnormality of the gastrointestinal tract White hair Foam cells Bladder neoplasm Focal segmental glomerulosclerosis Sensorineural hearing impairment Steppage gait Fever Tremor Ventriculomegaly Respiratory insufficiency Hypoplasia of the corpus callosum Reduced visual acuity Neoplasm Glomerulosclerosis Sensory ataxia Cerebellar vermis hypoplasia CNS hypomyelination Rotary nystagmus Hypocupremia Decreased serum ceruloplasmin Absent speech Low-set ears Segmental peripheral demyelination Abnormality of the skeletal system Peripheral axonal degeneration Segmental peripheral demyelination/remyelination Onion bulb formation Noncompaction cardiomyopathy Decreased number of peripheral myelinated nerve fibers Dry skin Axonal degeneration Choanal atresia Gingival overgrowth Rhizomelia Lymphopenia Leukopenia Recurrent upper respiratory tract infections Neurodevelopmental delay Upper limb undergrowth Agammaglobulinemia Hypertonia Frequent falls Dandy-Walker malformation Alopecia Prematurely aged appearance Absent eyelashes Abnormality of the foot Muscle weakness Concave nasal ridge Hypoplasia of teeth Limb muscle weakness Depressed nasal bridge Splenomegaly Short nose Malar flattening Pneumonia Squamous cell carcinoma Recurrent respiratory infections Hyperkeratosis Mandibular prognathia Skin rash Cough Distal muscle weakness Asthma Otitis media Recurrent otitis media Recurrent pneumonia Conjunctivitis Increased antibody level in blood Basal cell carcinoma Absent eyebrow Apnea Distal amyotrophy Generalized myoclonic seizures Peripheral demyelination Sensory impairment Sensory neuropathy Postnatal microcephaly Bradycardia Clonus Poor suck Weak cry Increased CSF lactate Distal sensory impairment Diarrhea Lower limb muscle weakness Hypogonadism Osteopenia Skeletal dysplasia Falls Hypotrichosis Nausea and vomiting Peripheral axonal neuropathy Microdontia Paresthesia Short thumb Hypoplasia of the radius Brittle hair Progressive forgetfulness



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