Cataract, and Hypogonadism

Diseases related with Cataract and Hypogonadism

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


Top matches:

Low match GALACTOKINASE DEFICIENCY


Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

GALACTOKINASE DEFICIENCY Is also known as galactosemia type 2|galk deficiency|galactokinase deficiency galactosemia|galk-d|galactosemia ii

Related symptoms:

  • Intellectual disability
  • Cataract
  • Hypogonadism
  • Hypergonadotropic hypogonadism
  • Hyperbilirubinemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOKINASE DEFICIENCY

Low match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Low match 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM


3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match RETINITIS PIGMENTOSA


Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


SOURCES: ORPHANET MENDELIAN

More info about RETINITIS PIGMENTOSA

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 MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Top 5 symptoms//phenotypes associated to Cataract and Hypogonadism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Rare Symptoms - Less than 30% cases


Hypertelorism Basal cell carcinoma Nystagmus Postnatal growth retardation Decreased testicular size Ataxia Obesity Abnormal facial shape Hearing impairment Neoplasm Short phalanx of finger Visual impairment Hyperreflexia Wide nasal bridge Optic atrophy Frontal bossing Glaucoma Sensorineural hearing impairment Cutaneous photosensitivity Blindness Hypoplasia of penis Hypergonadotropic hypogonadism Iris coloboma Anosmia Cryptorchidism Microphthalmia Cerebral calcification Hydrocephalus Brachycephaly Mandibular prognathia Telecanthus Carious teeth Arachnodactyly Abnormality of skin pigmentation Hypogonadotrophic hypogonadism Hemivertebrae Vertebral fusion Squamous cell carcinoma Abnormality of the neck Erythroderma Abnormality of the sense of smell Vertebral wedging Palmar pits Melanocytic nevus Severe vision loss Striae distensae Increased cellular sensitivity to UV light Dermal atrophy Decreased nerve conduction velocity Freckling Basal ganglia calcification Progeroid facial appearance Squamous cell carcinoma of the skin Cutaneous melanoma Abnormal CNS myelination Scoliosis Ptosis Lamellar cataract Acantholysis Concave nasal ridge Strabismus Epicanthus Brachydactyly Poikiloderma Osteosarcoma Alopecia of scalp Plantar pits Hypertension Low-set ears Hyperhidrosis Vomiting Diarrhea Abnormality of the dentition Alopecia Prominent forehead Telangiectasia Osteoporosis Sparse scalp hair Hyperkeratosis Feeding difficulties Eczema Overgrowth Abnormal blistering of the skin Hypopigmentation of the skin Osteopenia Carcinoma Erythema Sparse hair Skin rash Edema Pain Leukemia Growth hormone deficiency Cardiomyopathy Congestive heart failure Long philtrum Retrognathia Deeply set eye Stroke Dilated cardiomyopathy Wide nose Small hand Azoospermia Moyamoya phenomenon Cerebral hemorrhage Abnormality of the cardiovascular system Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Broad finger Melanoma Abnormality of the nares Abnormal hand morphology Premature graying of hair Abnormality of retinal pigmentation Pigmentary retinopathy Cerebral dysmyelination Hypertonia Thrombocytopenia Congenital cataract Spastic tetraplegia Hypsarrhythmia Adducted thumb Megaloblastic anemia Congenital microcephaly Cognitive impairment Abnormality of the midface Motor delay Peripheral neuropathy Dysarthria Gait disturbance Babinski sign Rod-cone dystrophy Polydactyly Rigidity Abnormality of the kidney Hypoplasia of the olfactory bulb Absent nares Bradykinesia Inguinal hernia Hyperbilirubinemia Increased intracranial pressure Prolonged neonatal jaundice Hypergalactosemia Presenile cataracts Galactosuria Impairment of galactose metabolism Cleft palate Visual loss Bifid uvula Single naris Amblyopia Gynecomastia Anophthalmia External genital hypoplasia Submucous cleft hard palate Misalignment of teeth Hyposmia Abdominal wall muscle weakness Failure of eruption of permanent teeth Postaxial polydactyly Renal dysplasia Retinal degeneration Hyperinsulinemia Vitamin K deficiency Short nasal septum Maternal autoimmune disease Anteverted nares Photophobia Conductive hearing impairment Ophthalmoplegia Type II diabetes mellitus Abnormal electroretinogram Keratoconus Abnormality of the vertebral column Atypical scarring of skin Abnormality of the testis Abnormality of the retinal vasculature Progressive night blindness Ventriculomegaly Intellectual disability, severe Cerebellar atrophy Severe short stature Retinopathy Epiphyseal stippling Systemic lupus erythematosus Frequent falls Distal lower limb amyotrophy Lower limb spasticity Spastic gait Cone/cone-rod dystrophy Impaired vibratory sensation Toe walking Urinary urgency Macular dystrophy Lower limb hyperreflexia Ankle clonus Distal lower limb muscle weakness Short distal phalanx of finger Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Hyperesthesia Failure to thrive Depressed nasal bridge Short nose Autoimmunity Ichthyosis Acrokeratosis



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