Cardiomyopathy, and Gynecomastia

Diseases related with Cardiomyopathy and Gynecomastia

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


Top matches:

Medium match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Medium match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

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Low match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Low match TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Low match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Low match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Low match 45,X/46,XY MIXED GONADAL DYSGENESIS


45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

45,X/46,XY MIXED GONADAL DYSGENESIS Is also known as 45,x0/46,xy mgd|45,x0/46,xy mixed gonadal dysgenesis|45,x/46,xy mgd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about 45,X/46,XY MIXED GONADAL DYSGENESIS

Low match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Gynecomastia

Symptoms // Phenotype % cases
Fatigue Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Menstrual irregularities Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Gynecomastia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Scoliosis Intellectual disability Short stature Obesity Ambiguous genitalia Hypospadias Micrognathia Epicanthus Ventricular septal defect Weight loss Depressed nasal bridge Micropenis Wide intermamillary distance Hirsutism Bifid scrotum Neoplasm Delayed puberty Hypogonadism Growth hormone excess

Rare Symptoms - Less than 30% cases


Hyperhidrosis Respiratory distress Abnormality of the kidney Visual impairment Myalgia Deeply set eye Motor delay Male hypogonadism Kyphoscoliosis Dyspnea Short neck Vomiting Blindness Pallor Hypothyroidism Ptosis Kyphosis Headache Respiratory failure Osteopenia Depressivity Palpitations Cholelithiasis Prolactin excess Increased circulating gonadotropin level Peripheral neuropathy Autistic behavior Recurrent otitis media Precocious puberty Goiter Acanthosis nigricans Pituitary adenoma Coarse facial features Hypogonadotrophic hypogonadism Blue irides Increased body weight Acne Hypertelorism Hydroureter Downslanted palpebral fissures Thickened skin Left ventricular hypertrophy Low-set, posteriorly rotated ears Pulmonic stenosis Dental malocclusion Epidermal acanthosis Webbed neck Pericardial effusion Cubitus valgus Bilateral cryptorchidism Progressive visual loss High palate Pain Abnormality of cardiovascular system morphology Pectus excavatum Tachycardia Congenital glaucoma Infertility Hepatomegaly Pituitary prolactin cell adenoma Posteriorly rotated ears Abnormality of the urethra Vertigo Cirrhosis Hepatic steatosis Ascites Atrial septal defect Penoscrotal hypospadias Perineal hypospadias Retinopathy Clinodactyly of the 5th finger Male pseudohermaphroditism Hyperpigmentation of the skin Inguinal hernia Impotence Hernia Female hypogonadism Urogenital sinus anomaly Ambiguous genitalia, male Diabetes insipidus Splenomegaly Diabetes mellitus Alopecia Seizures Global developmental delay Abnormality of the pituitary gland Hearing impairment Nystagmus Growth delay Incomplete male pseudohermaphroditism Abnormality of metabolism/homeostasis Ischemic stroke Hemangioma Fever Cafe-au-lait spot Abnormality of the skin Tall stature Proximal muscle weakness Nevus Carcinoma Confusion Papule Abnormality of the eye Vitreous haze Stroke Short nose Abnormality of the femoral head Unilateral renal hypoplasia Localized hirsutism Bipolar affective disorder Multiple lentigines Red hair Schwannoma Paraganglioma Pheochromocytoma Thyroid carcinoma Generalized hypopigmentation Recurrent cystitis Macroorchidism Increased circulating cortisol level Striae distensae Abnormality of renal calyx morphology Freckling Macule Neurofibromas Widely-spaced incisors Muscle weakness Hypermelanotic macule Precocious puberty in females Heart murmur Sarcoma EEG with occipital slowing Abnormality of prothrombin Abnormal retinal artery morphology Pulmonary hypoplasia Thyroid crisis Hypotension Bilateral talipes equinovarus Hemianopia Decreased fertility Adrenocorticotropic hormone deficiency Maternal diabetes Abnormality of the endocrine system Hyperthyroidism Hypokalemia Easy fatigability Ventricular arrhythmia Cranial nerve paralysis Cystic renal dysplasia Nausea and vomiting Supraventricular arrhythmia Bilateral renal agenesis Atrophy of the spinal cord Tremor Bilateral renal hypoplasia Urethral fistula Anorectal anomaly Urethral atresia, male Absent penis Abnormality of the bladder Cloacal abnormality Rectal fistula Fetal pyelectasis Tracheoesophageal fistula Abnormality of the voice Heteronymous hemianopia Bitemporal hemianopia Abnormality of hair density Hydronephrosis Anal atresia Abnormal visual field test Bilateral lung agenesis Internal ophthalmoplegia Fourth cranial nerve palsy Enlarged pituitary gland Cranial nerve VI palsy Euthyroid hyperthyroxinemia Periodic hypokalemic paresis Erectile abnormalities Decreased fertility in males Scrotal hypoplasia Adrenocorticotropin deficient adrenal insufficiency Hypoplasia of penis Central adrenal insufficiency Increased thyroid-stimulating hormone level Decreased circulating ACTH level Sudden loss of visual acuity Oligohydramnios Decreased female libido Decreased fertility in females Abnormality of the hair Secondary growth hormone deficiency Oculomotor nerve palsy Abnormality of the menstrual cycle Diplopia Curly hair Fibroma Broad forehead Interphalangeal joint contracture of finger Mitral valve prolapse Hip dysplasia Full cheeks Broad nasal tip Delayed eruption of teeth Single transverse palmar crease Thick vermilion border Short palm Thin vermilion border Smooth philtrum Genu valgum Corneal opacity Short philtrum Short phalanx of finger Camptodactyly of finger Wide mouth Joint stiffness Protruding ear Abnormality of the pinna Camptodactyly Umbilical hernia Skeletal dysplasia High forehead Mandibular prognathia Proptosis Glaucoma Brachycephaly Bowing of the long bones Gingival overgrowth Abnormal heart morphology Abnormally large globe Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Buphthalmos Concave nasal ridge Beaking of vertebral bodies Genu recurvatum Wide anterior fontanel Double outlet right ventricle Premature loss of teeth Megalocornea Aseptic necrosis Delayed cranial suture closure Flared metaphysis Metatarsus adductus Tricuspid regurgitation Flat occiput Short long bone Abnormality of the metacarpal bones Osteolysis Short chin Wormian bones Prominent forehead Intellectual disability, severe Testicular neoplasm Prolactinoma Pectus excavatum of inferior sternum High anterior hairline Unilateral breast hypoplasia Prolonged bleeding time Abnormality of coagulation Sparse eyebrow Sparse and thin eyebrow Thick lower lip vermilion Hypertrophic cardiomyopathy Polyhydramnios Macrocephaly Abnormal facial shape Increased serum insulin-like growth factor 1 Dorsocervical fat pad Delayed skeletal maturation Moon facies Pituitary growth hormone cell adenoma Galactorrhea Abdominal obesity Neoplasm of the endocrine system Bruising susceptibility Cutaneous myxoma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Profuse pigmented skin lesions Cardiac myxoma Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Intellectual disability, mild Nail dysplasia Anteverted nares Streak ovary Talipes equinovarus Abnormality of the skeletal system Wide nasal bridge Brachydactyly Flexion contracture Low-set ears Ovarian serous cystadenoma Muscle hypertrophy of the lower extremities Cervix cancer Abnormal internal genitalia Abnormality of the scrotum Ovotestis Dyscalculia Ambiguous genitalia, female Coarctation of aorta Epispadias Unilateral cryptorchidism Chordee Decreased serum testosterone level Gonadoblastoma Short 4th metacarpal Male infertility Prolonged QT interval Hallux valgus Short metatarsal Bicuspid aortic valve Azoospermia Horseshoe kidney Low posterior hairline Glue ear Hepatic encephalopathy Dilatation of the bladder Dilated cardiomyopathy Nephropathy Retinal dystrophy Hepatic failure Nausea Stage 5 chronic kidney disease Lymphadenopathy Retinal degeneration Dry skin Carious teeth Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Cough Abdominal distention Nyctalopia Scarring Sparse hair Abnormality of the liver Respiratory tract infection Postnatal growth retardation Irritability Proteinuria Conductive hearing impairment Elevated hepatic transaminase Photophobia Jaundice Hepatosplenomegaly Pes planus Sleep disturbance Asthma Autism Involuntary movements Generalized hirsutism Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Sinusitis Hepatic fibrosis Decreased liver function Insulin resistance Abnormality of retinal pigmentation Anorexia Chronic diarrhea Recurrent urinary tract infections Hypertriglyceridemia Vesicoureteral reflux Pulmonary arterial hypertension Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Cyanosis Specific learning disability Decreased testicular size Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Gastroesophageal reflux Hyperkeratosis Absence seizures Renal dysplasia Pseudohypoparathyroidism Elevated circulating luteinizing hormone level Aplasia of the uterus Patellar aplasia Elevated circulating follicle stimulating hormone level Labial hypoplasia Sparse pubic hair Sparse axillary hair Shawl scrotum Abnormality of the ureter Prominent occiput Growth abnormality Bilateral single transverse palmar creases Abnormality of the genital system Nephrogenic diabetes insipidus Primary amenorrhea Renal agenesis Pectus carinatum Cerebral cortical atrophy Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Increased serum ferritin Exocrine pancreatic insufficiency Hepatocellular carcinoma Arthropathy Joint dislocation Cholestasis Limitation of joint mobility Arthralgia Dimple chin Abnormal external genitalia Polydactyly Behavioral abnormality Abdominal pain Myoclonus Rod-cone dystrophy Recurrent respiratory infections Pneumonia Constipation Hyporeflexia Patent ductus arteriosus Visual loss Clinodactyly Encephalopathy Dilatation Renal insufficiency Dystonia Abnormality of the dentition Female external genitalia in individual with 46,XY karyotype Respiratory insufficiency Optic atrophy Delayed speech and language development Feeding difficulties Cognitive impairment Cataract Sensorineural hearing impairment Strabismus Failure to thrive Ataxia Scrotal hypospadias Penoscrotal transposition Blind vagina Absent facial hair Nephrocalcinosis Accelerated skeletal maturation Thickened ears Arteriosclerosis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Elevated C-reactive protein level Melena Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Hematemesis First degree atrioventricular block Myocardial fibrosis Hepatic necrosis Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hypoplastic male external genitalia Abnormality of the optic disc Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Chronic fatigue Oligospermia Macular degeneration Obsessive-compulsive behavior Chorioretinal atrophy Abnormal retinal morphology Truncal obesity Urinary urgency Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Hyperglycemia Hyperostosis Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Chronic otitis media Short finger Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Elevated alkaline phosphatase Abnormality of the hand Polycystic ovaries Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Hyperlipidemia Atherosclerosis Polyphagia Agenesis of permanent teeth Myocarditis Hyperventilation Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Alopecia of scalp Progressive sensorineural hearing impairment Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Glomerulopathy Anterior concavity of thoracic vertebrae



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