Cataract, and Elevated serum creatine phosphokinase

Diseases related with Cataract and Elevated serum creatine phosphokinase

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


Top matches:

Low match CARDIOMYOPATHY, DILATED, 1II; CMD1II


Related symptoms:

  • Cataract
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1II; CMD1II

Low match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G


Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G Is also known as lgmd1g|muscular dystrophy, limb-girdle, type 1g

Related symptoms:

  • Muscle weakness
  • Cataract
  • Myopathy
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G

Low match LISSENCEPHALY 8; LIS8


Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

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Other less relevant matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T


Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T

Low match MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID


MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Top 5 symptoms//phenotypes associated to Cataract and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Congenital muscular dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Elevated serum creatine phosphokinase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lissencephaly Ventriculomegaly Microphthalmia Polymicrogyria Type II lissencephaly Myopia Hydrocephalus Muscle weakness Cerebellar cyst Cognitive impairment Cerebellar hypoplasia Respiratory insufficiency Severe muscular hypotonia Hypoplasia of the pons Dilatation Spasticity Microcephaly Abnormality of the cerebral white matter Intellectual disability, profound Seizures Motor delay Myopathy Hyporeflexia Proximal muscle weakness

Rare Symptoms - Less than 30% cases


Hypoplasia of the brainstem Muscle cramps Feeding difficulties Flexion contracture Dandy-Walker malformation Cerebellar dysplasia Muscular hypotonia Retinal detachment Cardiomyopathy Lower limb muscle weakness Corneal opacity High myopia Optic atrophy Limb-girdle muscular dystrophy Muscular hypotonia of the trunk Absent speech Agyria Hypoplasia of the corpus callosum Intellectual disability, mild Exercise intolerance Easy fatigability Aqueductal stenosis Short stature Fatigable weakness of bulbar muscles Dilatation of the ventricular cavity Neck muscle weakness Difficulty climbing stairs Axial muscle weakness Distal upper limb muscle weakness Hypoglycosylation of alpha-dystroglycan Distal lower limb muscle weakness Proximal muscle weakness in upper limbs Abnormal glycosylation EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Left ventricular hypertrophy Lower limb spasticity Pachygyria Difficulty walking Spastic gait Gowers sign Toe walking Increased variability in muscle fiber diameter Abnormal pyramidal sign Spinal rigidity Increased connective tissue Hyperlordosis Rigidity Gait disturbance Ventricular hypertrophy Skeletal muscle atrophy Increased adipose tissue Respiratory distress Hyperreflexia Coloboma Strabismus Scoliosis Progressive muscle weakness Abnormality of skin pigmentation Severe global developmental delay Areflexia Nystagmus Rimmed vacuoles Flexion limitation of toes Decreased movement range in interphalangeal joints Proximal upper limb amyotrophy Proximal lower limb amyotrophy Pelvic girdle muscle weakness Shoulder girdle muscle weakness Progressive proximal muscle weakness Limb muscle weakness Generalized myoclonic seizures Diabetes mellitus Reduced ejection fraction Ventricular tachycardia Mitral regurgitation Sudden cardiac death Tachycardia Dilated cardiomyopathy Congestive heart failure Talipes equinovarus Encephalocele Buphthalmos Intellectual disability, severe Poor head control Holoprosencephaly Leukodystrophy Cerebellar vermis hypoplasia Cerebral calcification Retinal dystrophy Respiratory failure Glaucoma Macrocephaly Occipital encephalocele Frontoparietal polymicrogyria Diffuse white matter abnormalities Retinal dysplasia Optic nerve hypoplasia Leukoencephalopathy Blindness Abnormal myelination Delayed ability to walk Severe hydrocephalus



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