Cataract, and Cerebral calcification

Diseases related with Cataract and Cerebral calcification

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


Top matches:

Low match CATARACT 36; CTRCT36


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

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


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

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

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Other less relevant matches:

Low match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Low match CLASSIC PHENYLKETONURIA


Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Low match HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH


Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH ) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition (Taitz et al., 1966).

HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH Is also known as hypoparathyroidism, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB


For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Low match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Low match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

Low match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Top 5 symptoms//phenotypes associated to Cataract and Cerebral calcification

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Delayed eruption of teeth Microphthalmia Brachycephaly Basal ganglia calcification Ventriculomegaly

Rare Symptoms - Less than 30% cases


Generalized hypotonia Cryptorchidism Myopia Microcephaly Abnormality of the dentition Myopathy Hearing impairment Telecanthus Hydrocephalus Abnormality of the cerebral white matter Brachydactyly Dilatation Epicanthus Abnormality of dental enamel Sensorineural hearing impairment Glaucoma Short foot Frontal bossing Aggressive behavior Osteoporosis Short neck Abnormality of the skeletal system Depressed nasal bridge Short metacarpal Round face Cognitive impairment Full cheeks Obesity Vertebral fusion Pain Iris coloboma Hypertelorism Neoplasm Strabismus Wide nasal bridge Mandibular prognathia Carious teeth Arachnodactyly Hypogonadotrophic hypogonadism Nystagmus Hemivertebrae Melanocytic nevus Short metatarsal Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Hypoplasia of dental enamel Long philtrum Impulsivity Spinal cord compression Sparse scalp hair Large fontanelles Dental crowding Sparse eyelashes Abnormality of dental morphology Hyperostosis Long nose Narrow nose Mild global developmental delay Short palpebral fissure Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly Fine hair Overgrowth Short 4th metacarpal Clinodactyly Pseudohypoparathyroidism Ectopic calcification Failure to thrive Micrognathia Low-set ears Delayed speech and language development Downslanted palpebral fissures Increased cellular sensitivity to UV light Syndactyly Delayed skeletal maturation Underdeveloped nasal alae Narrow mouth Deeply set eye Toe syndactyly Thin vermilion border Small hand Microcornea Hypoplasia of the maxilla Triangular face Dental malocclusion Scoliosis Retinopathy Abnormal CNS myelination Postnatal microcephaly Hepatomegaly Edema Cerebellar hypoplasia Polydactyly Abnormality of the kidney Congenital cataract Progressive neurologic deterioration Ectopic kidney Agyria Cystic renal dysplasia Growth delay Tremor Hypertonia Behavioral abnormality Depressivity Autism Mental deterioration Spasticity Cerebellar cyst Nausea and vomiting Polymicrogyria Muscular hypotonia Macrocephaly Hypoplasia of the corpus callosum Absent speech Elevated serum creatine phosphokinase Respiratory failure Corneal opacity Muscular dystrophy Retinal dystrophy Buphthalmos High myopia Intellectual disability, profound Cerebellar vermis hypoplasia Leukodystrophy Lissencephaly Holoprosencephaly Poor head control Congenital muscular dystrophy Attention deficit hyperactivity disorder Paraplegia Cutaneous melanoma Retinal degeneration Decreased circulating parathyroid hormone level Ataxia Optic atrophy Cerebellar atrophy Severe short stature Hypogonadism Abnormality of metabolism/homeostasis Pigmentary retinopathy Abnormality of calcium-phosphate metabolism Abnormality of the cardiovascular system Cutaneous photosensitivity Dermal atrophy Decreased nerve conduction velocity Basal cell carcinoma Freckling Progeroid facial appearance Squamous cell carcinoma of the skin Congenital hypoparathyroidism Tetany Hypopigmentation of the skin Arrhythmia Memory impairment Eczema Hemiplegia Self-injurious behavior Hypopigmentation of hair Lack of skin elasticity Motor deterioration Hyperphenylalaninemia Alopecia Hyperphosphatemia Irritability Generalized tonic-clonic seizures Paresthesia Nephropathy Hypocalcemia Brittle hair Hyperparathyroidism Hypoparathyroidism 2-4 toe cutaneous syndactyly



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