Cataract, and Hirsutism

Diseases related with Cataract and Hirsutism

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


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Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3


Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS ), which is associated with heterozygous mutation in the CAV1 gene.

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 Is also known as berardinelli-seip congenital lipodystrophy, type 3|bscl3|lipodystrophy, berardinelli-seip congenital, type 3

Related symptoms:

  • Short stature
  • Cataract
  • Diabetes mellitus
  • Hepatosplenomegaly
  • Congenital cataract


SOURCES: OMIM MESH MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3

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 CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

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Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

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 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Low match ADNP SYNDROME


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Low match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Top 5 symptoms//phenotypes associated to Cataract and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hirsutism Global developmental delay Cryptorchidism Osteoporosis Kyphosis Muscular hypotonia Micrognathia Generalized hypotonia Seizures Nystagmus Truncal obesity Ptosis Microphthalmia Brachycephaly Coloboma Anxiety Iris coloboma Hypertension Flexion contracture Failure to thrive Lipodystrophy Glaucoma Obesity Brachydactyly Muscular hypotonia of the trunk Hearing impairment Congenital cataract

Rare Symptoms - Less than 30% cases


Myopathy Infertility Knee flexion contracture Thin skin Abnormality of the ear Psychosis Round face Recurrent fractures Sleep disturbance Narrow nasal bridge Bruising susceptibility Astigmatism Lethargy Immunodeficiency Abnormal facial shape Abdominal pain Nephrolithiasis Strabismus Visual loss Depressivity Fatigue Headache Cardiomyopathy Hypogonadism Recurrent skin infections Venous thrombosis Pituitary adenoma Micropenis Intellectual disability, severe Hypoplasia of the corpus callosum Wide nasal bridge High palate Macrotia Deeply set eye Scoliosis Decreased testicular size Metrorrhagia Foot polydactyly Adrenal hyperplasia Small hand Bipolar affective disorder Aseptic necrosis Generalized hyperpigmentation Telangiectasia of the skin Cerebral visual impairment Menorrhagia Acne Premature ovarian insufficiency Hypokalemia Kyphoscoliosis Short nose Onychomycosis Osteopenia Abnormality of cardiovascular system morphology Broad thumb Thickened skin Hypermelanotic macule Insulin resistance Corneal opacity Hypertelorism Ventriculomegaly Syndactyly Agenesis of corpus callosum Polydactyly Blepharophimosis Cutaneous photosensitivity Polymicrogyria Microcornea Neurodegeneration Hypertrichosis Bilateral ptosis Joint laxity Long ear Miosis Osteopetrosis Rocker bottom foot Congenital muscular dystrophy Coxa valga Autistic behavior Deep longitudinal plantar crease Elbow flexion contracture Joint contracture of the hand Intellectual disability, profound Sloping forehead Attention deficit hyperactivity disorder Neonatal hypotonia Recurrent infections Thin upper lip vermilion Abnormal heart morphology Respiratory distress Downslanted palpebral fissures Depressed nasal bridge Absent speech Hernia Feeding difficulties Low-set ears Atrial septal defect Inguinal hernia Hepatic steatosis Second metatarsal posteriorly placed Prominent forehead Hyperactivity Autism Gastroesophageal reflux Delayed myelination Cerebral calcification Subarachnoid hemorrhage Moon facies Mood changes Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Increased circulating cortisol level Striae distensae Macronodular adrenal hyperplasia Orthostatic hypotension Agitation Increased body weight Memory impairment Hypotension Mental deterioration Dorsocervical fat pad Primary hypercortisolism Peripheral demyelination Arthrogryposis multiplex congenita Neuronal loss in central nervous system Wide intermamillary distance Prominent nose Broad forehead Gliosis Thin vermilion border Muscular dystrophy Growth delay Prominent nasal bridge Camptodactyly Cerebellar hypoplasia Long philtrum Hypertonia Hyperreflexia Sensorineural hearing impairment Microtia Anal stenosis Hypermetropia Aganglionic megacolon Anosmia Bicuspid aortic valve Situs inversus totalis Hepatic fibrosis Dental crowding Left ventricular hypertrophy Abnormality of the genital system Radial deviation of finger Primary amenorrhea Postaxial hand polydactyly Pigmentary retinopathy Amenorrhea Specific learning disability Asthma Clubbing Tricuspid regurgitation Short foot Vaginal atresia Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Abnormality of the ovary Hypoplasia of the uterus Gait imbalance Undetectable electroretinogram Broad foot Poor coordination Nephronophthisis External genital hypoplasia Macular dystrophy Hypodontia High, narrow palate Smooth philtrum Exotropia Inverted nipples Long palpebral fissure Obsessive-compulsive behavior Language impairment Widely spaced teeth Plagiocephaly Amblyopia Generalized neonatal hypotonia Edema Stereotypy Sparse scalp hair Thick lower lip vermilion Growth hormone deficiency Joint hypermobility Hepatosplenomegaly Eyelid coloboma Juvenile cataract Retinal dystrophy Retinopathy Postaxial polydactyly Stage 5 chronic kidney disease Retinal degeneration Paraplegia Pulmonic stenosis Neurological speech impairment Abnormality of the kidney Microtia, first degree Reduced visual acuity Rod-cone dystrophy Renal insufficiency Macrocephaly Myopia Delayed speech and language development Ataxia Hypertriglyceridemia Widened metacarpal shaft Skeletal muscle atrophy Optic atrophy Erythema Protruding ear Skin rash Cerebellar atrophy Pruritus Anteverted nares Intrauterine growth retardation Weight loss Dry skin Peripheral neuropathy Tapered finger Palmoplantar keratoderma Spasticity Abnormal blistering of the skin Cerebral cortical atrophy Narrow mouth Abnormality of the hair Abnormal cerebellum morphology Postnatal microcephaly Pachygyria Cerebellar vermis hypoplasia Spastic tetraplegia Hypoplasia of penis Tetraplegia Delayed puberty Hyperkeratosis Short philtrum Joint stiffness Low-set, posteriorly rotated ears Alopecia Hydronephrosis Hyperhidrosis Epidermal acanthosis Abnormality of the nail Congenital generalized lipodystrophy Duplication of thumb phalanx Hypopigmented skin patches Preaxial polydactyly Preaxial hand polydactyly Basal cell carcinoma Aplasia/Hypoplasia of the skin Abnormality of thumb phalanx Hemimegalencephaly Horizontal nystagmus Cutaneous syndactyly of toes Anterior plagiocephaly Medulloblastoma Optic nerve coloboma Chronic constipation Arnold-Chiari type I malformation Narrow palpebral fissure Abnormality of the skin Neoplasm of the skin Generalized hyperkeratosis Palmoplantar hyperkeratosis Scaling skin Macule Irregular hyperpigmentation Abnormality of the testis Hypergranulosis Diffuse palmoplantar keratoderma Intestinal malrotation Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Carcinoma Craniosynostosis Finger syndactyly Toe syndactyly Facial asymmetry Abnormality of retinal pigmentation Low anterior hairline Muscle weakness Antinuclear antibody positivity Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Ankylosis Protrusio acetabuli Ankle contracture Hip contracture Arthropathy Abnormality of the thyroid gland Hypocalcemia Abnormality of the thorax Broad metatarsal Contractures of the large joints Osteolysis Cutaneous finger syndactyly Neoplasm Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Interphalangeal joint erosions C1-C2 subluxation Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling Metaphyseal widening Acanthosis nigricans Lissencephaly Severe postnatal growth retardation Frontoparietal polymicrogyria Hypoplastic labia minora Clitoral hypoplasia Upper limb spasticity Abnormal localization of kidney Retinal coloboma Abnormality of visual evoked potentials Frontal bossing Cerebellar vermis atrophy Cortical dysplasia Decreased muscle mass Spastic diplegia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Gait disturbance Pes cavus Gingival overgrowth Hypercholesterolemia Decreased body weight Subcutaneous nodule Split hand Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Bulbous nose Proptosis Arthritis Pes planus Arthralgia Coarse facial features Reduced subcutaneous adipose tissue Generalized lipodystrophy Hypothyroidism Septate vagina



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Broad forehead, related diseases and genetic alterations Myopathy and Neonatal hypotonia, related diseases and genetic alterations Ptosis and Umbilical hernia, related diseases and genetic alterations Peripheral neuropathy and Sarcoma, related diseases and genetic alterations Cleft palate and Frontal bossing, related diseases and genetic alterations

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