Cataract, and Delayed puberty

Diseases related with Cataract and Delayed puberty

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64


Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64 Is also known as spg64

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64

Low match MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

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

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Other less relevant matches:

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Low match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Low match MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Low match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Top 5 symptoms//phenotypes associated to Cataract and Delayed puberty

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Cryptorchidism Congenital cataract Micrognathia Micropenis Muscular hypotonia Deeply set eye Spasticity Scoliosis Hypogonadism Optic atrophy Broad nasal tip Microphthalmia Visual impairment Abnormal facial shape Brachycephaly Obesity Nystagmus Hearing impairment Short nose Short stature Failure to thrive

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Neoplasm Delayed speech and language development Intellectual disability, severe Aggressive behavior Decreased muscle mass Self-injurious behavior Sensorineural hearing impairment High palate High forehead Cardiomyopathy Anemia Absent speech Syndactyly Muscular hypotonia of the trunk Visual loss Corneal opacity Narrow mouth Macrotia Cerebral cortical atrophy Scrotal hypoplasia Hypogonadotrophic hypogonadism Kyphosis Gait disturbance Truncal obesity Autism Blepharitis Myopia Peripheral neuropathy Delayed skeletal maturation Muscle weakness Ptosis Wide nasal bridge Generalized hypotonia Alopecia Behavioral abnormality Glaucoma Skeletal muscle atrophy Short philtrum Nail dysplasia Decreased testicular size Low-set, posteriorly rotated ears Postnatal microcephaly Hip dysplasia Pachygyria Hydronephrosis Absence seizures Microcornea Spastic tetraplegia Abnormal cerebellum morphology Joint stiffness Cerebellar vermis hypoplasia Aciduria Hypoplasia of penis Polymicrogyria Hirsutism Tetraplegia Abnormality of mitochondrial metabolism Hypoplasia of the corpus callosum Broad forehead Wormian bones Abnormality of the genital system Underdeveloped nasal alae Prominent nose Single transverse palmar crease Downturned corners of mouth Prominent nasal bridge Sparse eyebrow Autistic behavior Telecanthus Hypothyroidism Downslanted palpebral fissures Brachydactyly Epicanthus Cutaneous syndactyly Cerebral visual impairment Anteverted nares Craniofacial dysostosis Optic nerve hypoplasia Intrauterine growth retardation Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Congenital ptosis Hypertension Nephroblastoma Sparse lateral eyebrow Decreased skull ossification Depressed nasal tip Exostoses Turricephaly Strabismus Aniridia Abnormality of retinal pigmentation Upper limb spasticity Low anterior hairline Hypoplasia of the iris Abnormal pupil morphology Abnormality of the retinal vasculature Abnormality of the helix Retinal dysplasia Vitreoretinopathy Sclerocornea Abnormality of the vasculature Severe vision loss Venous insufficiency Abnormality of immune system physiology Narrow nasal bridge Abnormal retinal morphology Aplasia/Hypoplasia of the cerebellum Ectopia lentis Cachexia Progressive hearing impairment Intellectual disability, progressive Anterior synechiae of the anterior chamber Retinoblastoma Clonus Corneal degeneration Anterior chamber synechiae Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Abnormal vitreous humor morphology Retinal fold Posterior synechiae of the anterior chamber Phthisis bulbi Erectile abnormalities Leukocoria Abnormal chorioretinal morphology Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Opacification of the corneal stroma Hallucinations Generalized hirsutism Increased serum lactate Malar flattening Hypertonia Blindness Hyperreflexia Frontoparietal polymicrogyria Hypoplastic labia minora Clitoral hypoplasia Abnormal localization of kidney Myoclonus Retinal coloboma Severe postnatal growth retardation Abnormality of visual evoked potentials Cerebellar vermis atrophy Cortical dysplasia Spastic diplegia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Dementia Diabetes mellitus Stereotypy Retinal degeneration Psychosis Intellectual disability, profound Hypotelorism Migraine Sleep disturbance Retinal detachment Thin vermilion border Confusion EEG abnormality Attention deficit hyperactivity disorder Retinopathy Protruding ear Irritability Developmental regression Abnormality of the eye Abnormality of the nervous system Anxiety Esotropia Abnormality of the anus Inability to walk Hypospadias Iris coloboma Synophrys Muscular dystrophy Coloboma Cleft lip Inguinal hernia Hernia Dental malocclusion Midface retrusion Edema Low-set ears Cleft palate Hypertelorism Mottled pigmentation Hypoplasia of the maxilla Primary amenorrhea Thin eyebrow Hyposmia Aplasia/Hypoplasia involving the nose Abnormality of the sense of smell Lacrimal duct stenosis Diastema Hypoplasia of teeth Lacrimation abnormality Hypoplastic labia majora Choanal atresia Agenesis of permanent teeth Preauricular pit Anophthalmia Limb-girdle muscular dystrophy Reduced number of teeth Anosmia Encephalocele Erysipelas Poikiloderma Aplasia of the nose Intellectual disability, borderline Erythroderma Psoriasiform dermatitis Inflammatory abnormality of the skin Ichthyosis Arthralgia Intellectual disability, mild Unsteady gait Hypocholesterolemia Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Intellectual disability, moderate Areflexia Talipes equinovarus Dysarthria Immune dysregulation Decreased LDL cholesterol concentration Heat intolerance Telangiectasia Achilles tendon contracture Raynaud phenomenon Scleroderma Pulmonary fibrosis Clubbing Hypohidrosis Fine hair Hepatomegaly Hypopigmentation of the skin Papule Dyspnea Hyperhidrosis Pneumonia Elevated serum creatine phosphokinase Myopathy Frontal encephalocele Absent paranasal sinuses Distal amyotrophy Atypical scarring of skin Scarring alopecia of scalp Corneal scarring Esophageal stricture Ankyloglossia Squamous cell carcinoma of the skin Corneal erosion Fragile skin Absent fingernail Skin vesicle Atrophic scars Milia Malnutrition Squamous cell carcinoma Ectropion Absent toenail Refractory anemia Dermal atrophy Gait ataxia Long face Peripheral axonal neuropathy Abnormality of the foot Pectus carinatum Hypertrophic cardiomyopathy Mandibular prognathia Upslanted palpebral fissure Loss of eyelashes Abnormality of the skeletal system Frontal bossing Feeding difficulties Ataxia Spontaneous esophageal perforation Mitten deformity Esophageal stenosis Hypoalbuminemia Neoplasm of the skin Pes cavus Small hand Emotional lability Prominent supraorbital ridges Gynecomastia Specific learning disability Tapered finger Short foot Thick eyebrow Malar prominence Poor speech Hypermetropia Neurological speech impairment Microtia Thin upper lip vermilion Pes planus Retrognathia Misalignment of teeth Uplifted earlobe Conjunctivitis Nail dystrophy Joint contracture of the hand Hypoplasia of dental enamel Abnormal blistering of the skin Progressive visual loss Toe syndactyly Carious teeth Pruritus Short ear Dilated cardiomyopathy Scarring Carcinoma Osteopenia Osteoporosis Constipation Dysphagia Vascular neoplasm



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