Visual impairment, and Alopecia

Diseases related with Visual impairment and Alopecia

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


Top matches:

Medium match HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD Is also known as hypotrichosis with cone-rod dystrophy;hjmd; hypotrichosis with juvenile macular dystrophy

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Nystagmus
  • Blindness
  • Abnormality of the dentition


SOURCES: MESH ORPHANET OMIM GARD DOID MONDO UMLS

More info about HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD

Medium match IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Autosomal dominant inheritance
  • Anemia
  • Thrombocytopenia
  • Immunodeficiency
  • Recurrent infections


SOURCES: UMLS MONDO OMIM

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Low match ACRODERMATITIS ENTEROPATHICA

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

ACRODERMATITIS ENTEROPATHICA Is also known as aez; acrodermatitis enteropathica, zinc deficiency type; inherited zinc deficiency

Related symptoms:

  • Short stature
  • Failure to thrive
  • Visual impairment
  • Cerebral cortical atrophy
  • Alopecia


SOURCES: UMLS SCTID ORPHANET

More info about ACRODERMATITIS ENTEROPATHICA

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Other less relevant matches:

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C

Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are caused by defects in mannose addition during N-linked oligosaccharide assembly. CDGs can be divided into 2 types, depending on whether they impair lipid-linked oligosaccharide (LLO) assembly and transfer (CDG I), or affect trimming of the protein-bound oligosaccharide or the addition of sugars to it (CDG II) (Orlean, 2000).CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. It is the second largest subtype of CDG (summary by Sun et al., 2005).For a discussion of the classification of CDGs, see CDG1A (OMIM ).Freeze and Aebi (1999) reviewed CDG Ib (OMIM ) and CDG Ic.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C Is also known as cdg ic;cdgic, carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly, carbohydrate-deficient glycoprotein syndrome, type v, formerly;cdgs5, formerly;cdg syndrome type ic; cdg-ic; cdg1c; carbohydrate deficient glycoprotein syndrome type ic; congenital disorder of glycosylation type 1c; congenital disorder of glycosylation type ic; glucosyltransferase 1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM SCTID NCIT ORPHANET MONDO GARD UMLS MESH

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as immunodeficiency, common variable, with central adrenal insufficiency, deficit in anterior pituitary function and variable immunodeficiency;david

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia


SOURCES: OMIM UMLS

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Low match KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT Is also known as kid syndrome, autosomal dominant;ichthyosis hystrix rheydt type; kid/hid syndrome; keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome; senter syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: UMLS OMIM ORPHANET MONDO DOID SCTID

More info about KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

Low match TEMPORAL ARTERITIS

Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

TEMPORAL ARTERITIS Is also known as giant cell arteritis;gca, cranial arteritis, polymyalgia rheumatica;horton disease; temporal arteritis

Related symptoms:

  • Autosomal dominant inheritance
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Ptosis


SOURCES: ORPHANET SCTID OMIM

More info about TEMPORAL ARTERITIS

Low match KNOBLOCH SYNDROME 1; KNO1

Knobloch syndrome is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011).

KNOBLOCH SYNDROME 1; KNO1 Is also known as kno, retinal detachment and occipital encephalocele;knobloch-layer syndrome; retinal detachment-occipital encephalocele syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: ORPHANET UMLS OMIM MESH GARD MONDO SCTID

More info about KNOBLOCH SYNDROME 1; KNO1

Low match INCONTINENTIA PIGMENTI; IP

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

INCONTINENTIA PIGMENTI; IP Is also known as incontinentia pigmenti, familial male-lethal type, bloch-sulzberger syndrome, incontinentia pigmenti, type ii, formerly;ip2, formerly;nevus fuscocaeruleus acromiodeltoideus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Pica
  • Microcephaly


SOURCES: OMIM ORPHANET

More info about INCONTINENTIA PIGMENTI; IP

Low match AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1

Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 Is also known as aps i, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;apeced, autoimmune polyglandular syndrome, type i, polyglandular autoimmune syndrome, type i, pga i, hypoadrenocorticism with hypoparathyroidism and superficial moniliasis;apeced syndrome; aps type 1; aps1; autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome; autoimmune polyendocrine syndrome type 1; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; autoimmune polyglandular syndrome type 1; ham syndrome; hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome; medac syndrome; multiple endocrine deficiency-addison disease-candidiasis syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Abnormal facial shape
  • Cataract
  • Anemia


SOURCES: MONDO ORPHANET NCIT UMLS OMIM SCTID GARD

More info about AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1

Top 5 symptoms//phenotypes associated to Visual impairment and Alopecia

Symptoms // Phenotype % cases
Blindness Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Alopecia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Visual loss Nevus Malabsorption Decreased antibody level in blood Cortical visual impairment Sinusitis Erythema Photophobia Seizures Skin ulcer Conjunctivitis Intellectual disability Global developmental delay Ataxia Strabismus Tics Renal insufficiency Cataract Immunodeficiency Nail dystrophy Sparse hair Hyperkeratosis Abnormality of the dentition Nystagmus Fine hair

Rare Symptoms - Less than 30% cases


Meningitis Vitiligo Corneal erosion Adrenal insufficiency Furrowed tongue Ridged nail Abnormality of the tongue Glossitis Fever Optic atrophy Delayed eruption of teeth Retinal detachment Anorexia Generalized hypotonia Ectodermal dysplasia Ptosis Retinopathy Keratoconjunctivitis Hypoglycemia Hepatic failure Spasticity Keratitis Abnormality of the nail Pustule Chronic sinusitis Failure to thrive Arthritis Reduced visual acuity Autoimmunity Nail dysplasia Pallor Pica Scarring Abnormal facial shape Recurrent skin infections Anemia Neoplasm Milia Progressive visual loss Diabetes insipidus Macular degeneration Hearing impairment Alopecia areata Abnormal blistering of the skin Weight loss Alopecia totalis Total anomalous pulmonary venous return Occipital encephalocele Occipital meningocele Meningocele Absent septum pellucidum Chorioretinal atrophy Acute lymphoblastic leukemia Abnormal vitreous humor morphology Large forehead Calvarial skull defect Macular hypoplasia Cerebellar malformation Aplasia cutis congenita of scalp Anomalous pulmonary venous return Dextrocardia Vitreoretinal degeneration Lymphangioma Exudative retinal detachment Phthisis bulbi Band keratopathy Retinal coloboma Asplenia Cortical dysplasia Ventriculomegaly Glaucoma Retrognathia Patent ductus arteriosus Midface retrusion Cerebral atrophy Coma Cerebellar atrophy Hydrocephalus Myopia Coloboma Epicanthus Depressed nasal bridge Motor delay Retinal arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Impaired mastication Abdominal aortic aneurysm Arteritis Mental deterioration Nyctalopia Cephalocele Encephalocele Ectopia lentis Retinal atrophy Corneal dystrophy Pyloric stenosis Horizontal nystagmus Narrow face Abnormality of the hair Pachygyria Thin skin Congenital cataract Bifid ureter Vesicoureteral reflux Leukemia Acrania Polymicrogyria Bulbous nose Joint hyperflexibility Retinal degeneration High myopia Hypopigmentation of the skin Microcephaly Pigmentary retinopathy Chronic hepatitis Abnormality of the fingernails Opacification of the corneal stroma Hypergonadotropic hypogonadism Hypoplasia of dental enamel Hepatitis Otitis media Cerebral calcification Gastritis Juvenile onset Abnormality of the liver Abnormality of calcium-phosphate metabolism Female hypogonadism Chronic atrophic gastritis Hypothyroidism Hypogonadism Hypopigmented skin patches Alopecia universalis Rod-cone dystrophy Chronic mucocutaneous candidiasis Adrenal hyperplasia Decreased circulating aldosterone level Abnormality of the cerebral vasculature Thyroiditis Abnormality of the gastrointestinal tract Antinuclear antibody positivity Increased circulating cortisol level Achalasia Type I diabetes mellitus Primary adrenal insufficiency Macular atrophy Abnormality of the thyroid gland Hypoparathyroidism Constriction of peripheral visual field Cholelithiasis Central diabetes insipidus Diabetes mellitus Diarrhea Microphthalmia Lymphedema Amaurosis fugax Eosinophilia Coarse hair Hemivertebrae Increased bone mineral density Skin vesicle Hyperpigmentation of the skin X-linked dominant inheritance Chronic active hepatitis Tetraplegia Hypodontia Abnormality of the skin Abnormality of skin pigmentation Papule Skin rash Kyphoscoliosis Supernumerary nipple Hyperostosis Atrophic, patchy alopecia Breast aplasia Hyperpigmented streaks Retinal vascular proliferation Retinal neovascularization Nail pits Scarring alopecia of scalp Hypohidrotic ectodermal dysplasia Retinal hemorrhage Supernumerary ribs Abnormality of the vasculature Generalized osteosclerosis Breast hypoplasia Conical tooth Thick nail Anodontia Hypoplasia of the fovea Uveitis Hypoplastic nipples Gastrointestinal infarctions Abnormality of corneal stroma Mediastinal lymphadenopathy Postural instability Hyperinsulinemic hypoglycemia Alopecia of scalp Ovarian cyst Partial agenesis of the corpus callosum Polycystic ovaries Intention tremor Dysmetria Frontal balding Hypermetropia Muscular hypotonia of the trunk Agenesis of corpus callosum Areflexia Intellectual disability, severe Tremor Edema Type I transferrin isoform profile Increased serum testosterone level Muscular hypotonia Inflammatory abnormality of the skin Central adrenal insufficiency Adrenocorticotropic hormone deficiency Autoimmune thrombocytopenia Mania Psoriasiform dermatitis Purpura Asthma Reduced antithrombin III activity Bronchiectasis Growth hormone deficiency Recurrent respiratory infections Dysphagia Gait disturbance Elevated serum transaminases during infections Reduced factor XI activity Dysarthria Generalized abnormality of skin Sensorineural hearing impairment Macular dystrophy Thrombocytopenia Abnormality of limb bone morphology Immunologic hypersensitivity Abnormality of macular pigmentation Pili torti Freckling Brittle hair Lymphoma Melanocytic nevus Cone/cone-rod dystrophy Trophic changes related to pain Hypotrichosis Sparse scalp hair Retinal dystrophy Skeletal dysplasia Hemolytic anemia Recurrent pneumonia Paronychia Emotional lability Ridged fingernail Cheilitis Abnormal eyelid morphology Poor appetite Abnormal eyebrow morphology Blepharitis Chronic diarrhea Inflammation of the large intestine Dry skin Cerebral cortical atrophy Dysgammaglobulinemia Chronic obstructive pulmonary disease Recurrent sinopulmonary infections Autoimmune hemolytic anemia IgA deficiency Trachyonychia Cryptorchidism Abnormal thrombocyte morphology Depressivity Myalgia Conductive hearing impairment Arthralgia Hyperhidrosis Abdominal pain Headache Fatigue Cough Arrhythmia Peripheral neuropathy Muscle weakness Trichilemmal cyst Trichiasis Moderate hearing impairment Crackles Joint stiffness Paresthesia Generalized hyperkeratosis Pericarditis Abnormality of the pleura Recurrent pharyngitis Arterial thrombosis Cerebral ischemia Gangrene Aortic dissection Elevated erythrocyte sedimentation rate Hematuria Visual field defect Ophthalmoparesis Diplopia Vasculitis Sudden cardiac death Epistaxis Vertigo Recurrent bacterial skin infections Corneal scarring Delayed skeletal maturation Hypohidrosis Knee flexion contracture Thickened skin Osteolysis Macule Elbow flexion contracture Aganglionic megacolon Sparse and thin eyebrow Neoplasm of the skin Palmoplantar keratoderma Ichthyosis Carious teeth Severe global developmental delay Carcinoma Cerebellar hypoplasia Pes cavus Sparse eyelashes Reduced tendon reflexes Corneal ulceration Abnormality of the eyelashes Corneal neovascularization Squamous cell carcinoma of the skin Recurrent corneal erosions Oral leukoplakia Dystrophic fingernails Dystrophic toenail Hypoplastic fingernail Keratoconjunctivitis sicca Urticaria Absent eyebrow Congenital sensorineural hearing impairment Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Cellulitis Hypoplastic toenails Hemiplegia/hemiparesis Patchy atrophy of the retinal pigment epithelium



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Optic atrophy and Congenital cataract, related diseases and genetic alterations Depressed nasal bridge and Cleft upper lip, related diseases and genetic alterations Edema and Basal cell carcinoma, related diseases and genetic alterations