Cataract, and Hyperhidrosis

Diseases related with Cataract and Hyperhidrosis

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


Top matches:

Low match UNCOMBABLE HAIR SYNDROME 2; UHS2


Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (OMIM ).

Related symptoms:

  • Cataract
  • Alopecia
  • Hyperhidrosis
  • Hypotrichosis
  • Juvenile cataract


SOURCES: OMIM MENDELIAN

More info about UNCOMBABLE HAIR SYNDROME 2; UHS2

Low match WOOLLY HAIR


Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.

WOOLLY HAIR Is also known as wooly hair|familial woolly hair syndrome|hereditary woolly hair syndrome|familial wooly hair syndrome|hereditary wooly hair syndrome

Related symptoms:

  • Strabismus
  • Cataract
  • Hyperhidrosis
  • Hyperkeratosis
  • Nevus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WOOLLY HAIR

Low match AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA


Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA Is also known as ppkca, stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|ppk-ca, stevanovic type

Related symptoms:

  • Scoliosis
  • Cataract
  • Flexion contracture
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA

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Other less relevant matches:

Low match PACHYONYCHIA CONGENITA


Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

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

Low match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

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

Low match VON HIPPEL-LINDAU DISEASE


Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Top 5 symptoms//phenotypes associated to Cataract and Hyperhidrosis

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Palmoplantar hyperkeratosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Erythema Nail dysplasia Brittle hair Scoliosis Neoplasm Fine hair Abnormal blistering of the skin Strabismus Abnormality of the dentition Hypotrichosis

Rare Symptoms - Less than 30% cases


Abnormality of the hair Abnormality of the nail Carious teeth Thick nail Nail dystrophy Abnormality of nail color Intellectual disability Hearing impairment Irregular hyperpigmentation Glaucoma Skin rash Cutaneous photosensitivity Scaling skin Cognitive impairment Sparse hair Visual impairment Sparse scalp hair Clubbing Leukemia Gait disturbance Nystagmus Hypopigmentation of the skin Telangiectasia Poikiloderma Hepatomegaly Heat intolerance Slow-growing hair Trichorrhexis nodosa Fair hair Flexion contracture Dry skin Ichthyosis Abnormality of skin pigmentation Ectodermal dysplasia Migraine Narrow forehead Optic nerve hypoplasia Hyperextensible skin Absent eyebrow Acute lymphoblastic leukemia Abnormality of the sternum Lymphoma B-cell lymphoma Abnormal aortic valve morphology Abnormality of the pancreas Multiple lentigines Abnormality of lateral ventricle Abnormal ventricular septum morphology Growth delay Pain Feeding difficulties Abnormality of the retinal vasculature Growth hormone deficiency Pancreatic cysts Pulmonic stenosis Abnormality of the lymphatic system Vascular neoplasm Thin eyebrow Erysipelas Retinal capillary hemangioma Papillary cystadenoma of the epididymis Mottled pigmentation Global developmental delay Generalized hypotonia Neuroendocrine neoplasm Muscular hypotonia Pheochromocytoma Motor delay Visceral angiomatosis Myopia Hypoplasia of the corpus callosum Cerebellar hypoplasia High forehead Telecanthus Abnormality of the cerebral vasculature Congenital cataract Frontal bossing Prominent forehead Edema Neurological speech impairment Acrokeratosis Ataxia Sensorineural hearing impairment Hypertension Hydrocephalus Visual loss Arrhythmia Abnormality of the kidney Nausea and vomiting Achilles tendon contracture Retinal detachment Renal cell carcinoma Telangiectasia of the skin Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Polycystic kidney dysplasia Increased intracranial pressure Sensory neuropathy Lamellar cataract Concave nasal ridge Vomiting Capillary hemangioma Diarrhea Multicystic kidney dysplasia Osteoporosis Hypogonadism Osteopenia Arteriovenous malformation Carcinoma Postnatal growth retardation Overgrowth Multiple renal cysts Eczema Melanoma Erythroderma Squamous cell carcinoma Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Osteosarcoma Acantholysis Hyperconvex nail Raynaud phenomenon Microcephaly Corneal dystrophy Laryngomalacia Anonychia Natal tooth Hamartoma Oral leukoplakia Epidermoid cyst Skin plaque Steatocystoma multiplex Brachydactyly Respiratory insufficiency Abnormality of cardiovascular system morphology Diabetes mellitus Weight loss Protruding ear Corneal opacity Pruritus Tapered finger Epidermal acanthosis Hypertrichosis Abnormality of the fingernails Congenital alopecia totalis Generalized hirsutism Woolly hair Juvenile cataract Pili canaliculi Uncombable hair Nevus Coarse hair Abnormal retinal morphology Sparse body hair Curly hair Hypopigmentation of hair Sparse lateral eyebrow Sclerodactyly Abnormal pupil morphology Dry hair Abnormality of hair texture Dystrophic fingernails Subungual hyperkeratosis Amniotic constriction ring Leukonychia Fingernail dysplasia Trichodysplasia Thickened skin Neoplasm of the skin Scleroderma Skeletal muscle atrophy Alopecia totalis Abnormal nasolacrimal system morphology Hypohidrotic ectodermal dysplasia Clubbing of toes Absent axillary hair Hidrotic ectodermal dysplasia Palmar hyperkeratosis Absent pubic hair Muscle weakness Myopathy Onycholysis Obesity Elevated serum creatine phosphokinase Pneumonia Dyspnea Papule Delayed puberty Hypohidrosis Pulmonary fibrosis Truncal obesity Craniofacial hyperostosis Sparse pubic hair Hypermelanotic macule Small nail Macule Abnormality of the testis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Photophobia Finger syndactyly Hyperpigmentation of the skin Clubbing of fingers Sparse and thin eyebrow Skin ulcer Conjunctivitis Sparse eyelashes Hand polydactyly Generalized hyperpigmentation Blepharitis Fragile nails Sparse axillary hair Neoplasm of the middle ear



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